By Marleah Dean Kruzel, PhD, BRCA2 Previvor When I was eight years old, my mother found a lump in her breast โ barely noticeable. For a few years, I watched her undergo chemotherapy, radiation, and a prophylactic mastectomy and reconstruction. Since then, my maternal aunt and grandmother also fought breast cancer, and we learned my …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-community-spotlight-the-patient-and-the-researcher-shares-her-uncertain-future-and-lessons-shes-learned/
A recent study found that in females with unilateral breast cancer (meaning breast cancer on one side) who decided to have a double mastectomy had similar mortality rates to those treated with lumpectomy or unilateral mastectomy (meaning double mastectomy did NOT lead to longer survival). Findings showed that while bilateral mastectomy greatly lowered the risk …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-double-mastectomy-not-linked-to-survival-advantage/
A recent study among high-risk patients found that pancreatic cancer screening through endoscopic ultrasound and/or MRI-based tests led to detection of smaller and earlier-stage cancers, and overall, seemed to result in longer survival. Patients with an inherited gene mutation that predisposes to pancreatic cancer and/or a family history of pancreatic cancer were considered to be …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-new-study-to-evaluate-pancreatic-cancer-screening/
Among BRCA1/2 carriers with advanced breast cancer, PARP inhibitors showed some activity even in patients with platinum resistant/unresponsive disease. However, the optimal delivery of platinum agents and PARP inhibitors was not clear.1 In another study of BRCA1/2 carriers with breast cancer (OlympiAD Trial), PARP inhibitors were compared to chemotherapy Treatment of Physicianโs Choice (TPC), with …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-brca1-2-carriers-treatment-advances/
What elements are most important in the collection of family history? When and how to use multigene panel testing when indicated? Which genes should be tested based on cancer type? Among patients with tumor testing, who should be offered germline testing? For a full list of recommendations in this guideline, the article is available at: …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-american-society-of-clinical-oncology-asco-guideline-update-selecting-genetic-tests-in-patients-with-various-cancers/
A recently published study reported that among females with ovarian cancer who received chemotherapy, their risk for breast cancer was lower for the next 5 years. Specifically, incidence rates were lower at 2 years (1.18%) and between 2 to 5 years (1.13%); however, incidence rates rose thereafter for BRCA1 carriers (>4% annually post 10 years). This study …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-breast-cancer-after-ovarian-cancer-in-brca1-2-carriers/
A recent study reported that pregnancy after breast cancer was safe for both mother and baby.1 Specifically, the researchers found that pregnancy after breast cancer was not associated with adverse maternal prognosis or fetal outcomes. Another study reported that breast cancer after pregnancy could be associated with poorer outcomes. Specifically, breast cancer diagnosed within 10 …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-brca1-2-carriers-and-pregnancy-related-ris/
A recent study among BRCA1 and BRCA2 carriers, which included ICARE participants, found that the risk for peritoneal cancer following a preventive bilateral oophorectomy was higher among BRCA1 carriers than BRCA2 carriers. Specifically, among 6310 females, the annual risk of peritoneal cancer was 0.14% for BRCA1 carriers and 0.06% for BRCA2 carriers, and the 20-year …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-brca1-2-carriers-risk-of-peritoneal-cancer-after-bilateral-oophorectomy/
Over the last few years, there has been mixed information about the risk of melanoma in BRCA1/2 carriers โ while earlier studies had suggested an association,1,2 other studies showed no association.3,4 Thus, based on current evidence, it is unclear if BRCA1 and/or BRCA2 pathogenic variants increase melanoma risk based on the current evidence.5,6 However, more recently, a study, which …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-risk-of-melanoma-in-brca1-2-carriers/
A new study found that males with a BRCA2 mutation and metastatic hormone-sensitive prostate cancer face poorer outcomes. BRCA2 carriers were also found to have a higher risk of progression to castration-resistant prostate cancer. These findings highlight the importance of evaluating germline mutations among prostate cancer patients. Custodio-Cabello, et al. Urol Oncol. 2024;42(10):331.e13-331.e24. PMID: 38926076. …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-brca2-associated-prostate-cancer/
A new study found that risks may be higher for multiple types of cancer, including breast cancer, in both females and males who have two CHEK2 mutations: Additionally, findings showed that the type of mutation may be important to guide level of risk (e.g., truncating 1100delC homozygotes being at a higher risk than compound heterozygotes …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-risks-of-cancer-in-individuals-with-two-chek2-mutations-called-bi-allelic-mutations/
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer โ Released September 11th, 2024 (V1.2025) Check out the full guidelines by creating a FREE account at www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf Testing Updates: Gene Updates: Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric Cancer โ Released August 8th, 2024 (V1.2024) Check out the full guidelines by creating a FREE account at …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2024-national-comprehensive-cancer-network-nccn-guideline-updates/
The National Comprehensive Cancer Network (NCCN) released the new Genetic/Familial High-Risk Assessment Colorectal, Endometrial, and Gastric Cancer guidelines on August 8th, 2024. Updates include gynecologic risk and preventive surgery considerations for MLH1, MSH6, MSH2, and PMS2 carriers. You can check out the full guidelines by creating a FREE account at:https://www.nccn.org/professionals/physician_gls/pdf/genetics_ceg.pdf
Permanent link to this article: https://inheritedcancer.net/post91824/
The National Comprehensive Cancer Network (NCCN) released the new Genetic/Familial High-Risk Assessment Colorectal, Endometrial, and Gastric Cancer guidelines on August 8th, 2024. Updates include โคธ You can check out the full guidelines by creating a FREE account at:https://www.nccn.org/professionals/physician_gls/pdf/genetics_ceg.pdf
Permanent link to this article: https://inheritedcancer.net/post91424/
The National Comprehensive Cancer Network (NCCN) released updated Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer guidelines on September 11th, 2024. Some updates include โคธ To read more, you can check out the full guidelines by creating a FREE account at:https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf
Permanent link to this article: https://inheritedcancer.net/post91224/
The National Comprehensive Cancer Network (NCCN) released the new Genetic Familial High-Risk Assessment Colorectal, Endometrial, and Gastric Cancer guidelines on August 8th, 2024. Updates include โคธโข Endometrial cancer recommendations included throughoutโข Hereditary Diffuse Gastric Cancer section added (HGAST-1)โข Gynecologic risk and preventive surgery considerations for those with Lynch Syndromeโข Use of hormone replacement treatment following …
Permanent link to this article: https://inheritedcancer.net/post90324/
Learn more about the Inherited Cancer Registry (ICARE) by watching an exciting presentation by student researcher, Reagan Sellers, who provides information about the history of ICARE, what being an ICARE participant entails, our various education and engagement efforts, and the focused research studies being conducted through ICARE. Check out the full video on our YouTube …
Permanent link to this article: https://inheritedcancer.net/post82824/
A new study in which ICARE participants were included reported that compared to 1.5% in the general population, the risk of melanoma may be slightly elevated: in BRCA1/2 carriers:โ BRCA1: 2.5%โ BRCA2: 2.3% Read the full article to learn more at: https://tinyurl.com/ye2xxfru Reference: Narod et al. Hered Cancer Clin Pract. 2024;22(1):7. PMID: 38741145.
Permanent link to this article: https://inheritedcancer.net/post82624/
A recent study among BRCA1 and BRCA2 carriers, which included ICARE participants, found that the risk for peritoneal cancer following a preventive bilateral oophorectomy was higher among BRCA1 carriers than BRCA2 carriers. Specifically, among 6310 women, the annual risk of peritoneal cancer was 0.14% for BRCA1 carriers and 0.06% for BRCA2 carriers, and the 20-year …
Permanent link to this article: https://inheritedcancer.net/post82524/
Unlock valuable resources for your health journey! ๐ The National Comprehensive Cancer Network (NCCN) guides clinical practice by providing free access to their guidelines that are available to both patients and healthcare providers. To access the most recent version of cancer-related guidelines that are updated at least annually, create a free username and password at …
Permanent link to this article: https://inheritedcancer.net/post82024/
Breaking News: The FDA recently approved a blood test for colorectal cancer screening! ๐ What does this mean? โญ Bottom Line: Learn more at: https://www.nejm.org/doi/full/10.1056/NEJMoa2304714 Reference: Chung, et al. N Engl J Med. 2024;390(11):973-983: PMID: 38477985.
Permanent link to this article: https://inheritedcancer.net/post80824/
In a recent study based on ICARE participants, we compared cancer risk management between those with CHEK2 1100delC (which leads to moderate breast cancer risk, generally more than 20% lifetime risk) versus I157T (which is a low penetrance mutation, with breast cancer risks of less than 20%) ๐ฉโ๐ฌ Of the 150 CHEK2 carriers, there were …
Permanent link to this article: https://inheritedcancer.net/post80524/
A new study of 25,591 women found: Based on genetic risk, identifying individuals at: This study challenges a one-size-fits all mammogram screening approach. This approach could possibly reduce rising healthcare costs by reallocating resources and lower unnecessary anxiety that comes with frequent screenings, and even prevent unnecessary procedures. Read the full article to learn more …
Permanent link to this article: https://inheritedcancer.net/post72924/
In recognition of Sarcoma Awareness Month, a new study found that POT1 mutations are associated with an increased risk for melanoma and a wider variety of different sarcomas than previously described. Specifically, the study showed significant raised risks of around 7-fold for both sarcoma and melanoma. This included many different types of sarcomas, including: Learn …
Permanent link to this article: https://inheritedcancer.net/post72824/
A new study, which included ICARE-related efforts through including BEST study participants:โช๏ธ Identified 12 breast cancer genes that may help to predict breast cancer riskโช๏ธ Included more than 40,000 women of African ancestry, almost half of which had breast cancer Why is studying individuals from diverse ancestral backgrounds important?โช๏ธ Refine risks across diverse populationsโช๏ธ A …
Permanent link to this article: https://inheritedcancer.net/post72524/
If you have a history of breast cancer and a mutation in the PALB2 gene, you may be eligible to contribute to tumor genomics studies to help better understand inherited breast cancer in PALB2 carriers. Through the Inherited Cancer Registry (ICARE), we are studying: With your help, we hope that one day our research may …
Permanent link to this article: https://inheritedcancer.net/post71124/
If you have a history of breast cancer and a mutation in the CHEK2 gene, you may be eligible to contribute to tumor genomics studies to help better understand inherited breast cancer in CHEK2 carriers. Through the Inherited Cancer Registry (ICARE), we are studying: With your help, we hope that one day our research may …
Permanent link to this article: https://inheritedcancer.net/post7052024/
If you have a history of breast cancer and a mutation in the ATM gene, you may be eligible to contribute to tumor genomics studies to help better understand inherited breast cancer in ATM carriers. Through the Inherited Cancer Registry (ICARE), we are studying: With your help, we hope that one day our research may …
Permanent link to this article: https://inheritedcancer.net/post62324/
A new study reported that among BRCA carriers, breast cancer diagnosed within 10 years of having a child was associated with a higher risk of mortality, especially in BRCA1 carriers. This information could be important for genetic counseling, prevention, and treatment strategies in BRCA carriers. Learn more by reading the full article at: https://bit.ly/3wHyAIz Reference: …
Permanent link to this article: https://inheritedcancer.net/post60624/
A new study reported that pregnancy after breast cancer was not associated with adverse maternal prognosis or fetal outcomes. These findings suggest that pregnancy after breast cancer is safe for both mother and baby. Read the full article at: https://bit.ly/3wcoa3xReference: Newman, et al. JAMA Surg. 2024. Online ahead of print. PMID: 38536201. Follow us to …
Permanent link to this article: https://inheritedcancer.net/post60324/
The American Society of Clinical Oncology (ASCO) just released new guidelines for the selection of germline genetic testing panels in patients with cancer. Items addressed include โคธ What elements are most important in the collection of family history?๐งฌ Details of cancers in first- and second-degree relatives and the patient’s ethnicity. When and how to use …
Permanent link to this article: https://inheritedcancer.net/post52124/
The American Association for Cancer Research (AACR) just released a Cancer Disparities Progress Report on May 15th, which includes highlights on inherited cancers! On Page 163, this report discusses policies to address disparities in screening and surveillance for hereditary cancer syndromes. It also highlights an electronic support tool, called MyLynch, that can be used to …
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Do you know the cancer risks for individuals with CHEK2 bi-allelic mutations (i.e., those with TWO CHEK2 mutations)? A new study found that risks may be higher for multiple types of cancer, including breast cancer, in both females and males โคธโช๏ธ Females more frequently developed 2 or more cancers at younger agesโช๏ธ Males more frequently …
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Curious about inherited cancer and the latest breakthroughs? Look no further than the ICARE YouTube channel! ๐ฅ Join genetics experts as they dive into discussions on important topics like updates to NCCN cancer risk management guidelines and insights into specific inherited cancer genes. ๐ก Don’t miss out on some of our top-viewed videos covering management …
Permanent link to this article: https://inheritedcancer.net/post42824/
In a study of a rare type of pancreatic cancer, called pancreatic acinar cell cancer (PACC), over one third (36.7%) of a total of 49 patients with PACC had a mutation in an inherited cancer gene. The most commonly mutated gene was BRCA2 (12), and other genes included BRCA1 (1), PALB2 (2), ATM (2), and …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2024-inherited-risk-in-patients-with-pancreatic-acinar-cell-carcinoma/
New studies to guide treatment strategies in men with prostate cancer and a BRCA mutation were recently published. Specifically, a recent study suggested that platinum-based chemotherapy may be as effective as PARP inhibitors for individuals with BRCA-positive metastatic castration-resistant prostate cancer.1 The study sheds light on treatment options for advanced prostate cancer patients. More recently, …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2024-brca-associated-prostate-cancer-treatment-updates/
This question was addressed by Ronald D. Alvarez, MD, MBA, Professor and Chairman of the Department of Obstetrics and Gynecology at the Vanderbilt University Medical Center in Nashville, Tennessee. He is also the current vice chair of the National Comprehensive Cancer Network (NCCN) Ovarian Cancer Treatment Guidelines and has served in multiple leadership roles in …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2024-ask-the-expert/
Several important studies were published recently on the effectiveness of risk management strategies in BRCA carriers. Specifically, a recently published study in which ICARE participants were included suggested that preventive bilateral mastectomy for BRCA carriers greatly reduced the risk of developing breast cancer by 80%.1 Additionally, study findings showed that after preventive mastectomy, the chance …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2024-how-well-do-cancer-risk-management-strategies-work-among-brca-carriers/
A new research study among individuals with Lynch Syndrome reported that regular and intense aerobic exercise may lower the risk of colorectal cancer by improving the immune system’s ability to detect and remove potentially harmful cells. Specifically, the researchers enrolled 21 patients with Lynch Syndrome either to an 1) exercise group (45 minute cycling classes …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2024-aerobic-exercise-may-reduce-risk-of-colorectal-cancer-in-patients-with-lynch-syndrome/
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2024-new-guidelines-released-through-asco-society-of-oncology-germline-testing-in-patients-with-breast-center/
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer โ Released February 12th, 2024 (V3.2024) Check out the full guidelines by creating a FREE account at www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf Contralateral breast cancer risks in these updated guidelines: Expanded guidance about gynecologic cancers in BRCA1/2 carriers: Some highlights related to HRT include: Genetic/Familial High-Risk Assessment: Colorectal Cancer โ Released …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2024-national-comprehensive-cancer-network-nccn-guideline-updates/
Two new research studies that ๐ถ๐ป๐ฐ๐น๐๐ฑ๐ฒ๐ฑ ๐๐๐๐ฅ๐ ๐ฝ๐ฎ๐ฟ๐๐ถ๐ฐ๐ถ๐ฝ๐ฎ๐ป๐๐ showed that risk of death is lowered among BRCA1/2 carriers with 1) MRI screening for breast cancer and 2) removal of both ovaries and fallopian tubes. ๐ก In the first study, MRI screening greatly lowered the risk of death from breast cancer (hazard ratio of 0.23) with …
Permanent link to this article: https://inheritedcancer.net/post3524/
๐ฌ Exciting news! A recent study, which included ICARE participants, suggests the life-saving potential of preventive mastectomy for BRCA1 and BRCA2 carriers. ๐ช This procedure significantly reduces the risk of developing breast cancer and may even decrease the risk of breast cancer-related mortality. The study found that after preventive mastectomy, the chance of dying from …
Permanent link to this article: https://inheritedcancer.net/post22724/
A recent study found that Olaparib (Lynparza) improved survival outcomes among men with BRCA1/2 mutations and metastatic castration-resistant prostate cancer, regardless of whether the mutation was germline or somatic. This underscores the potential of targeted therapies in improving outcomes for those with inherited cancer gene mutations. Learn more at: https://ascopubs.org/doi/10.1200/JCO.23.00339 Reference: Mateo, et al. J …
Permanent link to this article: https://inheritedcancer.net/post22024/
The National Comprehensive Cancer Network (NCCN) just released updated Genetic/Familial Breast, Ovarian, and Pancreatic Cancer guidelines on February 12th, 2024! Updates include adding contralateral breast cancer risks for BRCA1, BRCA2, PALB2, CHEK2, and other genes to the GENE-A (Cancer Risk Management) table ๐งฌ You can check out the full guidelines by creating a FREE account …
Permanent link to this article: https://inheritedcancer.net/post21324/
The National Comprehensive Cancer Network (NCCN) just released updated Genetic/Familial Breast, Ovarian, and Pancreatic Cancer guidelines on February 12th, 2024! Updates include expanded guidance about gynecologic cancers in BRCA1 and BRCA2, including:โ Reproductive considerationsโ Non-surgical and surgical risk reductionโ Salpingectomyโ Hysterectomy considerationsโ HRT after risk-reducing removal of the ovaries You can check out the full …
Permanent link to this article: https://inheritedcancer.net/post21324_2/
As featured in our Fall 2023 newsletter, inherited T790M EGFR mutations lead to a higher risk of lung cancer and are more common in the Southeast United States due to a ‘founder effect’. A study, in which our fellow Vanderbilt colleagues contributed, among individuals with this inherited cancer gene mutation found that more than half …
Permanent link to this article: https://inheritedcancer.net/post21224/
Want to learn more about genetic testing for inherited cancer? We use patient stories to give information about testing, its possible value to individuals and their family, and ways to access resources to learn more about getting tested. Check out the video here: http://tinyurl.com/genetictestingvideo To get free personalized information about hereditary cancer risk and testing, …
Permanent link to this article: https://inheritedcancer.net/post11724/
New research reveals that individuals under the age of 50 with Lynch Syndrome often develop small, flat adenomas, particularly in the right (proximal) colon. This finding emphasizes the importance of rigorous screening, with a special focus on the proximal colon, among these young Lynch Syndrome patients ๐ฉบ๐ Learn more at: https://www.dldjournalonline.com/article/S1590-8658(23)00946-5/fulltext Reference: Alric, et al. …
Permanent link to this article: https://inheritedcancer.net/post11024/
The American Society of Clinical Oncology (ASCO) just released new guidelines for germline testing in patients with breast cancer, which include the following:๐งฌ BRCA1/2 testing should be offered to ALL patients diagnosed with breast cancer at or below age 65๐งฌ Testing for other hereditary cancer genes should also be offered based on personal and family …
Permanent link to this article: https://inheritedcancer.net/post10524/
A recent study suggests that Platinum Chemotherapy is as effective as PARP inhibitors for individuals with BRCA-positive metastatic castration-resistant prostate cancer. The study sheds light on treatment options for advanced prostate cancer patients ๐ฉบโจ Learn more at: http://tinyurl.com/3vs2mk8f Reference: Fazekas, et al. Eur Urol Oncol. 2023: S2588-9311(23)00174-8. PMID: 37722977.
Permanent link to this article: https://inheritedcancer.net/post10324/
A study among BRCA1/2 carriers who underwent a risk-reducing salpingo-oophorectomy (i.e., removal of both ovaries and fallopian tubes) found that the risk of peritoneal cancer increases if serous tubal intraepithelial carcinoma (STIC) is present – specifically, peritoneal cancer risk was 10.5% with STIC versus 0.3% without STIC at 5 years and 27.5% with STIC versus …
Permanent link to this article: https://inheritedcancer.net/post121923/
A recent study among nearly 500 BRCA1/2 carriers who underwent breast cancer surgery found that survival was higher in those who chose preventive removal of their ovaries and fallopian tubes (in order to reduce cancer risks) compared to those who did not, particularly in BRCA1 carriers. Learn more at: https://tinyurl.com/5hdx6ytv Reference: Martelli, et al. JAMA …
Permanent link to this article: https://inheritedcancer.net/post121323/
In a recent study among female BRCA1/2 carriers, including ICARE participants, researchers explored the impact of using tamoxifen and/or raloxifene on breast cancer risk. ๐ฉโ๐ฌ After almost 7 years of follow-up, only 10.9% of those in the tamoxifen/raloxifene group were diagnosed with breast cancer, compared to 14.3% of those in the non-user group. These findings …
Permanent link to this article: https://inheritedcancer.net/post120523/
New research suggests regular, intense aerobic exercise may lower colorectal cancer risk in Lynch Syndrome patients ๐โโ๏ธ๐งฌ Learn more at: https://tinyurl.com/2s44828h Reference: Deng, et al. Clin Cancer Res. 2023; 29(21): 4361-4372. PMID: 37724990.
Permanent link to this article: https://inheritedcancer.net/post111523/
A new study found that inherited BRCA2, ATM, and NBN genes were most strongly associated with aggressive or metastatic prostate cancer. Learn more at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2809874 Reference: Darst, et al. JAMA Oncol. 2023. PMID: 37733366.
Permanent link to this article: https://inheritedcancer.net/post110923/
Nov 01
Language barriers should never prevent people from accessing essential information in the field of healthcare. To fill the gap caused by the lack of Spanish-speaking genetic counselors, our team developed a web-based genetic education tool ๐งฌ A study among 41 Spanish-speaking found that viewing the tool significantly increased knowledge and feeling informed and empowered to …
Permanent link to this article: https://inheritedcancer.net/post110123/
Nov 01
Las barreras del idioma nunca deberรญan impedir que las personas accedan a informaciรณn esencial en el campo de la atenciรณn de salud. Para llenar el vacรญo causado por la falta de asesores genรฉticos que hablan espaรฑol, nuestro equipo desarrollรณ una herramienta de educaciรณn genรฉtica basada en la web. Un estudio entre 41 hispanohablantes encontrรณ que …
Permanent link to this article: https://inheritedcancer.net/post110123_1/
Permanent link to this article: https://inheritedcancer.net/post102923/
Triple-negative breast cancers, which do not have estrogen, progesterone, or HER2 receptors, can be more serious and difficult to treat. Inherited breast cancer gene mutations, like BRCA1/2, are more common among this type of breast cancer – which is why it is important for those with triple-negative breast cancer to consider getting genetic testing that …
Permanent link to this article: https://inheritedcancer.net/post102223/
A study found that the majority of BRCA1/2 carriers who underwent risk-reducing salpingo-oophorectomy have declining cancer worry. However, a subset had concerns – these individuals are important to identify and try to offer additional support to. Use the following link to learn more: https://bit.ly/3qflyig Reference: van Bommel, et al. Support Care Cancer. 2022;30(4):3409-3418. PMID: 34997316.
Permanent link to this article: https://inheritedcancer.net/post102023/
A recent randomized controlled trial among 107 BRCA1/2 carriers, which included ICARE participants, evaluated the effectiveness of a behavioral phone intervention delivered by genetic counselors on the uptake of risk-reducing salpingo-oophorectomy. Women who received the intervention had significantly lower decisional conflict and higher knowledge after one year, and at the two year mark, nearly 54% …
Permanent link to this article: https://inheritedcancer.net/post101223/
Are BRCA2 carriers at higher risk for developing melanoma? As featured in our Fall 2023 newsletter, at present, we are not sure because results from different studies have been inconsistent. For instance, one study among 173 families with a BRCA2 mutation found a 2.6-fold risk of developing melanoma; however, another study of 139 Dutch families …
Permanent link to this article: https://inheritedcancer.net/post100623/
My paternal grandparents were my heroes. Wise beyond their time, they relished teaching our familythat knowledge is power, health is everything, and love is unconditional. Back then, Prevention healthmagazine and vitamin supplements filled their mailbox and 1960โs exercise guru Jack LaLane, and health foodadvocate Euell Gibbons, beckoned new followers from a talking picture box in …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-community-spotlight/
This question was addressed by Kelly Taylor, MS, LCGC, a licensed and certified genetic counselor with expertise inresearch genetics and hereditary cancers at the Vanderbilt Hereditary Cancer Clinic. If you have a question you wouldlike addressed, please email the ICARE team at ICARE@vumc.org for consideration in future newsletters. Q: I have Lynch Syndrome and an …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-ask-the-expert/
On April 28th, 2023, the FDA approved olaparib plus abiraterone acetate for first line treatment for metastatic castration-resistant prostate cancer, but only in patients whose tumors have BRCA mutations. Although a broad indication for the combination therapy was desired, concerns about the trial design were raised, and the phase III results did not explicitly show …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-brca-associated-prostate-cancers/
Oct 05
A recent study, based on ICARE participants, found that getting care according to guidelines depends on what the healthcare provider recommends, as well as how much trust the patient has in their care. This study shows us how important it is to find ways to improve knowledge among healthcare providers and trust in care among …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-healthcare-delivery/
A study, in which our Vanderbilt colleagues Georgia Wiesner, MD, MS (geneticist) and Kelly Taylor, MS, LCGC (genetic counselor) participated, was recently published about the inherited T790M EGFR mutation. Mutations in this gene lead to a higher risk or lung cancer and were found to be more common in the Southeast United States where there …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-germline-egfr-mutations-and-familial-lung-cancer/
A new study of almost 18,000 men with prostate cancer showed that inherited mutations in the BRCA2, ATM, and NBN genes were strongly associated with aggressive prostate cancer. Less strong associations were seen for inherited mutations in the MSH2, XRCC2, and MRE11A genes. The findings of this study suggest that knowing about inherited genes that …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-genes-associated-with-aggressive-prostate-cancer/
At present, we are not sure because results from different studies have been inconsistent (1). For instance, one study among 173 families with a BRCA2 mutation found a 2.6-fold risk of developing melanoma (2); however, another study of 139 Dutch families with a BRCA2 mutation revealed a lower than general population risk for melanoma (3). …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-are-brca2-carriers-at-higher-risk-for-melanoma/
A recent study among female BRCA carriers showed risk of breast cancer was not significantly raised through fertility treatment, which is reassuring. There remains a need to further study this question in more detail, for associations with breast cancers across different breast cancer subtypes, including breast cancers that are hormone-related and breast cancers that are …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-fertility-treatment-in-brca-carriers-breast-cancer-risk/
A person with a pathogenic variant in the CHEK2 gene may be at an increased risk for developing breast and other cancers. This ACMG Clinical Practice Resource, published in ACMGโs flagship journal, Genetics in Medicine, provides valuable information for healthcare providers caring for individuals with pathogenic variants in the CHEK2gene. This new ACMG Practice Resource …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-newly-released-acmg-clinical-practice-resource-on-chek2-developed-through-a-group-of-worldwide-experts/
In a study of female BRCA carriers, including ICARE participants, those that used tamoxifen and/or raloxifenewere compared to those that did not. After an average follow-up time of almost 7 years, 10.9% of those in the tamoxifen/raloxifene group were diagnosed with breast cancer, compared to 14.3% in the group that did not use thesedrugs. This …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-tamoxifen-and-breast-cancer-risk-in-women-with-a-brca1-or-brca2-mutation/
Among female BRCA1 and BRCA2 carriers, a recent study found that oral contraceptive use is associated with:โบ Raised risk of breast cancer, but only in those using for over 5 years (relative risk: 1.25)โบ Lower risk of ovarian cancer (nearly cut in half) Park, et al. Carcinogenesis. 2022;43(3):231-242. PMID:
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-brca1-and-brca2-carriers-cancer-risks-with-oral-contraceptive-use-uk/
Through consensus, management recommendations were developed in the UK for females with pathogenic variants inthe following inherited ovarian cancer genes: RAD51C, RAD51D, BRIP1, and PALB2. Hanson, et al. J Med Genet. 2023;60(5):417-429. PMID: 36411032. Social media post September 26th, 2023.Available at https://tinyurl.com/post9262023.
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-recommendations-for-inherited-ovarian-cancer-genes-united-kingdom-uk/
On May 9th, 2023, the USPSTF published a new draft recommendation for all cisgender women and those assigned female sex at birth to do mammograms from ages 40 to 74, every two years, for those at average (population) risk forbreast cancer. This change in recommendation is due to recent troubling trends, including an increase in …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-mammograms-new-u-s-preventive-services-task-force-uspstf-recommendations/
Check out the full NCCN guidelines by creating a FREE account at www.nccn.org Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic CancerReleased August 28th, 2023 (V1.2024) โบ Transgender, Non-Binary, and Gender Diverse Individuals: NEW section on care (Page 63-66, TNBGD-1 to 4)โบ Li-Fraumeni Syndrome: Significant updates to content (risks and care) (Pages 57-60, LIFR-A): Table added …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-national-comprehensive-cancer-network-nccn-guidelines-updates/
There are many different inherited breast cancer genes, and different genes lead to different levels of breast cancer risk:
Permanent link to this article: https://inheritedcancer.net/post100423/
According to a recent study, germline BRCA1/2 status did not affect prognosis. However, outcomes differed by immunohistochemistry (IHC) subtype as follows: Use the link in bio to learn more! Reference: Mailliez, et al. Int J Cancer. 2023;152(5):921-931. PMID: 36161271.
Permanent link to this article: https://inheritedcancer.net/post83032/
The National Comprehensive Cancer Network (NCCN) just released updated Genetic/Familial Breast, Ovarian, and Pancreatic Cancer guidelines on August 28th, 2023, which included: You can check out the full guidelines by creating a FREE account at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf
Permanent link to this article: https://inheritedcancer.net/post82923/
A critical step forward in cancer care! The FDA has approved the use of niraparib and abiraterone acetate with prednisone in treating patients with BRCA-mutated castration-resistant prostate cancer. The green light comes backed by the robust efficacy data from the MAGNITUDE trial. Read more about the FDA approval at โ https://tinyurl.com/dzdvtm9m Learn more about the MAGNITUDE …
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A recent study found that inherited CDH1 mutations: These findings support expansion of lobular breast cancer-centered criteria. Use this link to learn more: http://bit.ly/3DJa7Cs Reference: Garcia-Pelaez, et al. Lancet Oncol. 2023 Jan;24(1):91-106. PMID: 36436516.
Permanent link to this article: https://inheritedcancer.net/post82223/
Through consensus, management recommendations were developed in the UK for females with pathogenic variants in the following inherited ovarian cancer genes: Learn more at the link in bio! Reference: Hanson H, et al. J Med Genet. 2023;60(5):417-429. PMID: 36411032.
Permanent link to this article: https://inheritedcancer.net/post81823/
A study found that fertility treatment did not significantly raise the risk of breast cancer, which is reassuring. However, further research is required with regard to: Use the link in bio to learn more! Reference: Liu et al. Front Endocrinol (Lausanne). 2022;13:986477. PMID: 36176466.
Permanent link to this article: https://inheritedcancer.net/post81123/
A recent study, which ๐ถ๐ป๐ฐ๐น๐๐ฑ๐ฒ๐ฑ ๐๐๐๐ฅ๐ ๐ฝ๐ฎ๐ฟ๐๐ถ๐ฐ๐ถ๐ฝ๐ฎ๐ป๐๐, found that getting care according to guidelines depends on: Therefore, we need ways to improve knowledge among healthcare providers and trust in care among patients! Use this link to learn more: https://tinyurl.com/n26m4zys Reference: Dean, et al. Genet Med. 2023;100945. PMID: 37515473.
Permanent link to this article: https://inheritedcancer.net/post80723/
Check out the newly released ACMG Clinical Practice Resource on CHEK2 developed through a group of worldwide experts! ๐https://tinyurl.com/bp8esxsf Read the ACMG press release at ๐https://tinyurl.com/yvammhzt
Permanent link to this article: https://inheritedcancer.net/post72623/
Recent study findings suggest that BRCA1/2, PALB2, ATM, CHEK2, and the Lynch Syndrome genes might confer reduced penetrance cancer risk among children. However, there are no adjustments to management or testing recommendations based on the level of risk (i.e., normally do not test children for conditions that primarily increase the risk of cancer in adulthood). …
Permanent link to this article: https://inheritedcancer.net/post72123/
Among female BRCA1 and BRCA2 carriers, a recent study found that oral contraceptive use is associated with an increased risk of breast cancer, but only among users who have been using them for more than five years, while ovarian cancer risk was nearly cut in half. Use the link in bio to learn more! Reference: …
Permanent link to this article: https://inheritedcancer.net/post70623/
A study among CDKN2A carriers assessing the yield and outcomes of 20 years of pancreatic cancer screening found: These results highlight the potential importance of pancreatic cancer screening among CDKN2A carriers. Currently, NCCN guidelines recommend annual pancreatic cancer screening starting at age 40, regardless of family history. Use the link in bio to learn more! …
Permanent link to this article: https://inheritedcancer.net/post70223/
A new study found that mammographic features (density, microcalcifications, masses, and left-right breast asymmetries) predicted risks better than traditional lifestyle/familial risk-based risk models over a 10-year period. โ Use this link to learn more: https://bit.ly/443GDLd Reference: Eriksson et al. J Clin Oncol. 2023;JCO2201564. PMID: 36930854.
Permanent link to this article: https://inheritedcancer.net/post62823/
A recent study found that, regardless of a prior cancer diagnosis, there was no increased cancer worry after 1 year of full-body MRI surveillance in TP53 carriers. Further research is needed to evaluate these issues further. Use the link in bio to read the full article! Reference: Omran, et al. Cancer. 2023;129(6):946-955. PMID: 36601958.
Permanent link to this article: https://inheritedcancer.net/post62123/
A recent study found that Black women had the highest rate of breast cancer deaths in their 40s, compared to White women and women of other races and ethnicities. โ Use this link to learn more: https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2803948?utm_source=For_The_Media&utm_medium=referral&utm_campaign=ftm_links&utm_term=041923 Reference: Chen T, et al. JAMA Netw Open. 2023;6(4):e238893. PMID: 37074714.
Permanent link to this article: https://inheritedcancer.net/post62023/
Olaparib plus abiraterone acetate is recommended as the first line treatment for metastatic castration-resistant prostate cancer, but only in patients whose tumors have BRCA mutations. Although a broad indication for the combination therapy was desired, concerns about the trial design were raised, and the phase III results did not explicitly show that patients without a …
Permanent link to this article: https://inheritedcancer.net/post61623/
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The National Comprehensive Cancer Network (NCCN) just released updated colorectal cancer guidelines which includes: You can check out the full guidelines by creating a FREE account at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf
Permanent link to this article: https://inheritedcancer.net/post60823/
Among patients with multiple primary cancers, the proportion with inherited cancer gene mutations increased with the number of primary cancers:โข 2 cancers: 13.1%โข 3 cancers: 15.9%โข 4+ cancers: 18.0% Many of the double primaries, such as those of the breast, ovary, colorectum, and endometrium, occurred in women who would already be eligible for genetic testing. …
Permanent link to this article: https://inheritedcancer.net/post60723/
Today is National Cancer Survivors Day! Learn how you can support cancer survivors by visiting the American Association for Cancer Research (AACR) website ๐https://www.aacr.org/patients-caregivers/awareness-months/national-cancer-survivor-month/
Permanent link to this article: https://inheritedcancer.net/post60523-2/
In a multicenter study evaluating reclassifications of variant of uncertain significance (VUS) results in breast, ovarian, and colorectal cancer susceptibility genes, it was discovered that of 3261 VUS results, 8.1% were reclassified. Of all the reclassified VUS results, 11.3% resulted in clinically actionable findings, and 4.6% led to changes in clinical management. The reclassification rates …
Permanent link to this article: https://inheritedcancer.net/post60523/
Did you know that transgender and gender-diverse persons face unique challenges that can influence cancer risk and outcomes? For instance, these individuals face barriers to healthcare access and inequities in treatment, with healthcare providers lacking knowledge about the health needs of this population. Solutions are needed to offer the best care for these individuals. Use …
Permanent link to this article: https://inheritedcancer.net/post52223/
In honor of National Women’s Health Week from May 14th to May 20th, we would like to encourage you to speak with your healthcare provider to make sure you are up-to-date on your cancer screenings, such as mammograms and colonoscopies, to help prevent cancer or find it early when it is easier to treat. Spread …
Permanent link to this article: https://inheritedcancer.net/post51523/
According to a recent study, while there was a reported 2-fold risk for breast cancer overall among ATM carriers, those with the c.7271T>G mutation had the highest risk. Use the link to learn more: https://bit.ly/40bKovj Reference: Hall et al. Cancer Prev Res (Phila). 2021;14(4):433-440. PMID: 33509806.
Permanent link to this article: https://inheritedcancer.net/post51123/
Yesterday the United States Preventive Services Task Force (USPSTF) published a new draft recommendation for all cisgender women and those assigned female sex at birth to do mammograms from ages 40 to 74, every two years. This change in recommendation is due to recent troubling trends, including an increase in the number of cancers diagnosed …
Permanent link to this article: https://inheritedcancer.net/post51023/
According to a recent study among individuals with Lynch Syndrome: Use the link in bio to learn more! Reference: Zhong et al. J Am Acad Dermatol. 2023;S0190-9622(23)00173-1. PMID: 36773823.
Permanent link to this article: https://inheritedcancer.net/post50623/
A study that compared a PARP inhibitor (talazoparib) to the standard of care (an androgen receptor inhibitor) in metastatic castration-resistant prostate cancer found that it improved progression-free survival regardless of BRCA mutation status. However, the benefit was greatest in males with a BRCA or other DNA repair gene mutation. Read the full article at this …
Permanent link to this article: https://inheritedcancer.net/post50823/
A recent study among over 2200 females (aged 50-75) with BRCA mutations, including ICARE participants, found 379 diagnosed cancers with breast and ovarian cancer being the most common cancers observed. Overall cancer risks were 49% in BRCA1 carriers and 43% in BRCA2 carriers, and cancer risks dropped to 9% among those who had preventative removal …
Permanent link to this article: https://inheritedcancer.net/post42823/
Researchers identified 9 new genetic variants that may increase the risk of developing prostate cancer. This study highlights the importance of studying diverse populations. Read the full article at this link: https://www.sciencedirect.com/science/article/abs/pii/S0302283823025617 โ Reference:Chen et al. Eur Urol. 2023;S0302-2838(23)02561-7. PMID: 36872133.
Permanent link to this article: https://inheritedcancer.net/post42223/
An open study for BRCA1, BRCA2, or PALB2 carriers with stage 1-3 breast cancer is currently recruiting! Learn more about the study by visiting https://vanderbilt.trialstoday.org/trial/NCT04584255
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A study that evaluated a PARP inhibitor (niraparib) in males with metastatic prostate cancer found that those with a BRCA1 or BRCA2 mutation lived longer on average than those who did not have a BRCA mutation. Read the full article at the link: https://pubmed.ncbi.nlm.nih.gov/35131040/โ Reference:Smith et al. Lancet Oncol. 2022;23(3):362-373. PMID: 35131040.
Permanent link to this article: https://inheritedcancer.net/post42023/
A new study ๐ฏ๐ ๐ผ๐๐ฟ ๐๐ฒ๐ฎ๐บ used the Framework for Developing and Evaluating Complex Interventions (FDECI) to evaluate an intervention to improve family communication of positive genetic test results for inherited cancer. The first FDECI phases were beneficial for improving the intervention and planning for continual effectiveness and future implementation phases. Use the link in …
Permanent link to this article: https://inheritedcancer.net/post41023/
In 1997 when I was a junior in college, my mom called to let me know that my father had been diagnosed with prostate cancer. Luckily for him, Prostate Specific Antigen (PSA) testing had recently started which resulted in early detection and subsequent prostatectomy. Due to his diagnosis and knowing prostate cancer is an inherited …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023span-stylecolor-56b0e4community-spotlight/
The below question was addressed by Ben Ho Park, MD, PhD, who is the Director of the Vanderbilt-Ingram Cancer Center and a Professor of Medicine in the Division of Hematology and Oncology. If you have a question you would like addressed, please email the ICARE team at ICARE@vumc.org for consideration in future newsletters. Q: As …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023ask-the-expert/
A study to test niraparib (a PARP inhibitor) in males with metastatic prostate cancer showed that those with an inherited BRCA1 or BRCA2 (BRCA) mutation lived longer on average compared to those without a BRCA mutation. Side effects from niraparib were similar to those previously reported with PARP inhibitors.1 Another PARP inhibitor trial tested an …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023prostate-cancer-treatment-updates/
Findings from a Phase II study to evaluate the use of talazoparib (a PARP inhibitor) in individuals with advanced PALB2-mutation breast cancer showed that it appeared effective in certain patients and appeared safe (with similar adverse events as those previously reported with this drug).1 There are several Phase II trials to evaluate PARP inhibitors in …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-breast-cancer-treatment-updates/
Generally, males with breast cancer present with advanced stage disease, thought to be due to a lack of screening. While data to determine performance of breast screening through mammograms for males at inherited risk is limited, recent studies suggest that the detection rate is similar or better than for females at general population risk.1,2,3 In …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-breast-cancer-screening-in-male-brca1-2-carriers/
While there are higher cancer risks in BRCA mutation carriers starting in the mid-20s, a recent study focused on studying cancer risks in older females aged 50-75. Of the over 2000 females in the study, which included ICARE participants, 379 cancers were found between age 50 to 75 with risks of 49% in BRCA1 carriers …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-lynch-syndrome-colorectal-cancer-risks-revisited/
A study of 381 individuals with Lynch Syndrome in New Zealand (98 with Lynch Syndrome-associated variants in MLH1, 159 in MSH2, 103 in MSH6, and 21 in PMS2) found that risks for colorectal cancer were lower in MSH6 and PMS2 carriers, suggesting that it might be possible to spread out colonoscopy intervals for these individuals.1 …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023/
While higher risks for contralateral breast cancer (CBC) have been known for BRCA1 and BRCA2, a newly published study demonstrated that the risk of CBC is also higher for female PALB2 and CHEK2 carriers; however, no elevated risks were found for ATM carriers (Table 1).1 This information is important to study, as it may be …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-inherited-breast-cancer-contralateral-breast-cancer-risks/
A recently published cohort study of 483 individuals with Li-Fraumeni Syndrome (LFS) identified 113 skin cancers. The cumulative incidence of a diagnosis of any skin cancer was 36.3% by the age of 70. Specifically for melanoma, the median age at diagnosis was 42 with a 7-fold increased incidence (SIR 7.28, 95% CI 4.50-11.13) compared with …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-melanoma-risk-in-li-fraumeni-syndrome/
Check out the full NCCN guidelines by creating a FREE account at www.nccn.org Genetic/Familial High-Risk Assessment: Breast, Ovarian, PancreaticJanuary 10th, 2023 (Version 2.2023) focused on male BRCA carriers:โบ Consider annual mammograms (particularly in BRCA2 carriers) starting at age 50 or 10 years before the earliest male breast cancer in the family (whichever comes first)February 13th, …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-national-comprehensive-cancer-network-nccn-guidelines-updates/
According to a recent Phase II study, Talazoparib may benefit patients with PALB2-associated breast cancer. Findings showed that Talazoparib appeared effective and safe in certain patients with advanced disease. Read the full article at this link: https://www.nature.com/articles/s43018-022-00439-1 Reference: Gruber et al. Nat Cancer. 2022;3(10):1181-1191. PMID: 36253484.
Permanent link to this article: https://inheritedcancer.net/post32723/
Did you know endometrial cancer is the 4th most common cancer among females? Currently, clinical practice guidelines do not recommend endometrial cancer screening in the general population. A new risk prediction model was recently developed to identify those at high risk for endometrial (uterine) cancer to determine who could benefit from cancer screenings and risk-reducing …
Permanent link to this article: https://inheritedcancer.net/post32623/
Because of the high frequency of mutations found in individuals with pheochromocytoma and paraganglioma, these individuals are advised to consider genetic testing for inherited cancer.Use this link to learn more: โ https://pubmed.ncbi.nlm.nih.gov/35976622/ Reference: Yip, et al. JAMA Surg. 2022;157 (10):870-877. PMID: 35976622
Permanent link to this article: https://inheritedcancer.net/post32223/
Findings from a recent study: Risk factors for metachronous colorectal cancer included a history of colorectal polyps and having an MLH1 or MSH2 mutation, while protective factors included female sex and extended surgical resection. This highlights the importance of genetic testing and counseling for Lynch syndrome prior to surgery, which can influence surgical strategy and …
Permanent link to this article: https://inheritedcancer.net/post31923/
A study on colorectal cancer risks in Lynch Syndrome patients found that:โข Colorectal cancer risks were lower in MSH6 and PMS2 carriersโข Colonoscopy intervals for these individuals could be longerโข Incomplete polyp removal may be responsible for 1/3 of surveillance-detected colorectal cancers Read the full article with the link in bio! Reference: Lamba, et al. …
Permanent link to this article: https://inheritedcancer.net/post31323/
A new study shows germline MBD4 mutations cause an autosomal recessive tumor predisposing syndrome associated with: This highlights the importance of including MBD4 in genetic testing for polyposis and multi-tumor phenotypes to improve disease management. Use the link in bio to learn more! Reference: Palles, et al. Am J Hum Genet. 2022;109(5):953-960. PMID: 35460607.
Permanent link to this article: https://inheritedcancer.net/post31223/
Check out the latest edition of our B-GREAT newsletter for updates about inherited cancers in the context of racial inequalities in healthcare. You can read the newsletter by visiting ๐https://bgreatinitiative.inheritedcancer.net/wp-content/uploads/BGREAT-December-2022-Newsletter.pdf Please feel free to share with family members, friends, and/or your healthcare providers.
Permanent link to this article: https://inheritedcancer.net/post30623/
A new study found a 7-fold increased incidence of melanoma in individuals with TP53/Li-Fraumeni Syndrome compared with the general population:โข Average age was 42โข Risk to age 40 was 2.8%โข Risk to age 60 was 7.8%โข Risk to age 70 was 14.9% Learn more at the link below!https://pubmed.ncbi.nlm.nih.gov/35183552/ Reference: Hatton, et al. J Invest Dermatol. …
Permanent link to this article: https://inheritedcancer.net/post30723/
Why have genetic testing? Genetic testing for inherited cancer can help guide care, including:โข Cancer treatment plans, such as chemotherapy, drugs, surgery, and radiationโข Cancer screening and prevention Sharing genetic test results can also help family members understand their cancer risks.โ
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While ATM mutations are generally associated with a 25-30% lifetime risk for breast cancer, emerging information suggests that the risk in those with a c.7570G>C mutation may be higher. Once confirmed, this information may be important to guide cancer screening and risk-reducing surgery decisions. Use this link to learn more: https://onlinelibrary.wiley.com/doi/10.1002/ijc.34305
Permanent link to this article: https://inheritedcancer.net/post40623/
On February 16th, 2022, the Reducing Hereditary Cancer Act (S.3656) was introduced to the U.S. Senate with the goal of ensuring Medicare beneficiaries have coverage for potentially life-saving inherited cancer genetic counseling and testing as well as recommended screening and risk-reducing procedures, when medically necessary and appropriate. Currently, Medicare only covers genetic testing for beneficiaries …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-reducing-hereditary-cancer-act-of-2021/
Genetic testing sounded like a futuristic concept when it originally came to our attention. It sounded something to the likes of cloning. We didnโt really understand what it was and why it was important, but rather thought it sounded like something out of science fiction. Thankfully, our medical providers and genetic counselors stuck with us …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-community-spotlight/
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Lynch Syndrome Carriers with Advanced Uterine Cancer: Treatment with PembrolizumabWomen with Lynch Syndrome are at high risk for uterine cancer. The type of uterine cancer they develop has the tumorcharacteristic of being ‘MSI-H’. A new study indicated treatment with pembrolizumab (Keytruda) resulted in benefit inpatients with MSI-H advanced uterine cancer. Von Hippel-Lindau Patients: Treatment of …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-inherited-cancer-treatment-updates/
A new study found that among BRCA1/2 carriers, oral contraceptive use strongly lowered cancer risk over oneโs lifetime, even though at first, they raise risks of breast, ovarian, and endometrial cancer.Schrijver et al. J Natl Cancer Inst. 2022 Jan. PMID: 35048954. Social media post February 15th, 2022. Available at:https://tinyurl.com/post21522.
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-brca1-2-oral-contraceptives-and-breast-cancer/
A recent international study found that male BRCA1 and BRCA2 carriers have a higher risk for breast, pancreatic, and stomach cancer. Additionally, male BRCA2 carriers were found to have higher risks for prostate cancer. See the below table for the specific risk levels: Li et al. J Clin Oncol. 2022 Jan. PMID: 35077220. Social media …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-brca1-2-and-male-cancer-risks/
A new study suggests men with certain MSH2 and MSH6 mutations have higher risks of prostate cancer and may be candidates for PSA screening. Bancroft et al. Lancet Oncol. 2021 Nov. PMID: 34678156. Social media postDecember 17th, 2021. Available at: https://tinyurl.com/post121721
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-lynch-syndrome-and-prostate-cancer/
Breast MRIs are advised in women with >20% lifetime risk of breast cancer. A new study showed that breast cancer risks in BRCA1, BRCA2 and PALB2 carriers remained higher than 20%, regardless of whether polygenic risk scores (PRS) were done, suggesting this is of limited help in refining screening. In contrast, PRS downgraded breast cancer …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-polygenic-risk-scores-and-inherited-breast-cancer-genes-brca1-2-palb2-chek2-and-atm/
A new study reported on differences in the TP53 mutations between patients who met vs those who did not meet Li-Fraumeni Syndrome (LFS) testing criteria. Several variants were identified multiple times in those who did and did not meet LFS clinical criteria: p.R175, p.G245, p.R248, p.R273, and p.R282. Other variants were exclusively found in those …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-li-fraumeni-syndrome-and-cancer-risks/
A recent study of women with hereditary lobular breast cancer due to CDH1 mutations found high rates ofundetected stomach cancer (with signet ring features). The findings suggested that among CDH1 carriers, there werevery high risks for stomach cancer, even when family history of stomach cancer was absent.Gamble et al. JAMA Surg. 2021 Oct. PMID: 34643667. …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-cdh1-and-stomach-cancer/
A new article reported that pancreatic cancer risks are morethan 6-fold higher in individuals with an ATM mutation.Pancreatic cancer risks by age were:โบ 1.1% by age 50โบ 6.3% by age 70โบ 9.5% by age 80Hsu, et al. JAMA Oncol. 2021 Sep. PMID: 34529012. Social media post October 1st, 2021. Available at: https://tinyurl.com/post100121.
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-atm-and-pancreatic-cancer/
When I was just 8 years old my mother was diagnosed with a very aggressive breast cancer. I didnโt reallyunderstand the concept of cancer at that age, but I knew what was happening was terrible. After manysurgeries and treatments, she passed away 2 years later at the age of 35. There was no hereditary cancertesting …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-community-spotlight/
The below question was addressed by Dr. Kamran Idrees, Chief of the Division of Surgical Oncology & Endocrine Surgery, Associate Professor of Surgery, Ingram Associate Professor of Cancer Research, and Director of Pancreatic and Gastro Intestinal Surgical Oncology at Vanderbilt-Ingram Cancer Center. Dr. Idreesโ research has focused on colorectal cancer, liver metastases, and pancreatic cancer …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-ask-the-expert/
Female ATM carriers have approximately a 2-fold risk, on average, for developing breast cancer, which was confirmed through two large studies that reported risks (odds ratio) as 2.10 (95% CI, 1.71โ2.57)1 and 1.82 (95% CI, 1.46โ2.27). Both studies reported an association with ER+ tumors. Another recent study estimated breast cancer risks to be 13% by …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-atm-associated-cancer-risks/
Using information from twelve prior population-based studies, a modeling analysis was done to look at when to start mammography and breast MRI in females with inherited mutations in genes including ATM and CHEK2. Overall, findings showed that starting annual MRI screening between age 30 to 35 and mammography at age 40 may lower death from …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-screening-treatment-updates-new-modeling-analysis-about-breast-cancer-screening-in-atm-and-chek2-carriers/
A recent small study suggests that immunotherapy may benefit patients with refractory pancreatic or biliary cancer who have inherited a mutation in the homologous recombination deficiency (HRD) genes, BRCA1, BRCA2, and RAD51C.Another new study reported that in BRCA1/2 carriers with pancreatic cancer, maintenance treatment with Olaparib may be of benefit. Findings showed that with Olaparib, …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-screening-treatment-updates-pancreatic-cancer/
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-which-genes-are-confirmed-as-inherited-breast-cancer-genes/
A new study led by colleagues at Vanderbilt University Medical Center, including our clinical geneticist colleague, Dr. Georgia Wiesner, evaluated 23 hereditary cancer genes and found 19 new gene associations including 7 new associations with cancer and 12 new associations with noncancer diseases. The associations with cancer versus other conditions is included in the table. …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-inherited-cancer-genes-new-associations/
During preventive surgery to remove the ovaries and fallopian tubes (called a risk-reducing salpingo-oophorectomy orRRSO), a new study found that the detection of tubal intraepithelial carcinoma predicts the risk of later peritonealcancer.1 These findings show the importance of timely RRSO and the need to do a careful pathology exam of the ovaries and fallopian tubes …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-brca1-2-cancer-risk-updates/
Check out the full NCCN guidelines by creating a FREE account at www.nccn.org Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic โ Released September 7th, 2022โบ Testing eligibility based on personal history of any type of breast cancer in females was updated from age โค45 to โค50 making more females with breast cancer eligible for testing …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-national-comprehensive-cancer-network-nccn-guidelines-updates/
Looking for a place to get the latest curated information about inherited cancers? Look no furtherโฆ Provide evidence-basedsummaries about inheritedcancer genetics for healthprofessionals and patients Summaries updated basedon monthly review ofpublished literature Written and maintained by amultidisciplinary Editorial Board ofexperts in medical genetics, oncology,and related specialties Visit https://tinyurl.com/NCIPDQ and https://www.cancer.gov/publications/pdq/editorial-boards/genetics for more information
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2021-resource-spotlight-national-cancer-institutes-cancer-genetics-pdq/
Researchers reported that single nucleotide polymorphism (SNP) tests, which are used by DTC tests such as 23andMe, are not reliable in identifying the majority of BRCA1/2 mutations or other inherited cancer gene mutations. The SNP test used by many DTC ancestry and DNA companies is designed to detect common traits many people share. However, when …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2021-direct-to-consumer-tests-not-reliable-to-detect-brca1-2-mutations/
Under current Medicare guidelines, only those with “signs, symptoms, complaints, or personal histories of disease” meet the criteria for medical services coverage. Thus, genetic testing is only covered for those already diagnosed with cancer, regardless of family history. If someone without cancer has an inherited mutation that increases cancer risk (e.g., BRCA1/2), Medicare may not …
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At the age of 51, my first and only colonoscopy revealed 100 polyps in my colon, rectum, and anuseven though I had no symptoms or family history. I was immediately referred to a Certified GeneticCounselor at Tripler Army Medical Center in Hawaiโi. Germline DNA testing revealed I had attenuatedfamilial adenomatous polyposis (AFAP), due to an …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2021-community-spotlight/
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2021-ask-the-expert/
A recent study found use of a polygenic risk score (PRS) modified the estimated riskof breast cancer among both carriers and non-carriers of inherited breast cancerpredisposition genes. Taking PRS into account, more than 95% of BRCA1, BRCA2,and PALB2 carriers had greater than 20% lifetime risks of breast cancer. In contrast,among ATM and CHEK2 carriers without …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2021-polygenic-risk-scores-and-breast-cancer-risks-brca1-2-palb2-chek2-atm-and-beyond/
Did you know female BRCA1, BRCA2, CHEK2, or PALB2 carriers have much higher risks for contralateral breast cancer?This information is important to guide cancer screening and risk reduction strategies. Use the link in bio to learn more!
Permanent link to this article: https://inheritedcancer.net/post40123/
Early-stage, high-risk breast cancer in BRCA carriers: Results of the highly awaited phase 3 OlympiA trial showed promising results for EARLY STAGE (i.e., localized Stage 2-3) high-risk breast cancer patients with a BRCA mutation who were treated with a PARP inhibitor (olaparib) in the adjuvant setting (i.e., AFTER surgery).1 Early-stage breast cancer in this trial …
Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-inherited-cancer-treatment-updates/
Breast cancer risks: A risk-reducing salpingo-oophorectomy (i.e., removal of both ovaries and fallopian tubes) in BRCA carriers was associated with a reduced risk of breast cancer within five years after surgery, with evidence of longer-term risk reduction among those with BRCA1 variants.1 Ovarian cancer risks: A new study reported that the use of oral contraceptives …
Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-modifying-risks-in-brca-carriers/
A new study found that lifetime breast cancer risk is 15% or more in female BRCA1, BRCA2, and PALB2 carriers over age 65. This level of risk warrants consideration for continuing breast MRI.1 These results are similar to those of a study that included ICARE participants,2 which reported the risk of developing breast cancer remains …
Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-breast-cancer-risks-remain-high-in-palb2-brca/
A new Polish study based on two specific founder mutations in PALB2 reported that mutations in this gene may predispose to an aggressive, lethal form of prostate cancer.1 The investigators studied PALB2 prostate cancer risks, characteristics, and outcomes in almost 5,500 men with prostate cancer and compared them to over 8,000 cancer-free adults from Poland. …
Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-prostate-cancer-and-palb2/
In May 2021, a clinical practice resource was released by the American College of Medical Genetics and Genomics (ACMG) from a global team of cancer genetics specialists (see figure) to help guide the care of PALB2 carriers.1 PALB2 is considered the third most important breast cancer risk gene, after BRCA1 and BRCA2, with PALB2 carriers …
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Breast, Ovarian, and Pancreatic Guidelines V.1.2022: Released August 11th, 2021 Colorectal Cancer Guidelines V.1.2021: Released May 11th, 2021 Check out the full NCCN guidelines by creating a FREE account at www.nccn.org
Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-updates-to-nccn-genetic-familial-high-risk-assessment/
Did you know that BRCA1/2 are amongst the most well-studied genes, yet most BRCA1/2 studies have been done in White populations? This means our knowledge about genes and risks comes primarily from White populations. โข Some research suggests that BRCA1/2 gene mutations may be more common in young Black women with breast cancer. โข Even …
Permanent link to this article: https://inheritedcancer.net/post12423-2/
The National Comprehensive Cancer Network (NCCN) just released updated breast, ovarian, and pancreatic cancer guidelines which included updated breast cancer screening recommendations for male BRCA carriers (particularly male BRCA2 carriers). It is now recommended that male BRCA carriers consider annual mammograms starting at age 50 or 10 years before the earliest male breast cancer in …
Permanent link to this article: https://inheritedcancer.net/post12423/
A new risk prediction model was developed to assess the risk of contralateral breast cancer in BRCA1/2 carriers. Risks are higher with:โข Younger age at first breast cancerโข Close family member with breast and/or ovarian cancerโข Mutation located near the 3′ region of the gene Risks are lower with:โข Endocrine therapy Use this link in …
Permanent link to this article: https://inheritedcancer.net/post11423/
Did you know that about 80% of genomics data comes from European populations, yet they only make up about 16% of the world population? This bias means Europeans stand to benefit the most, while important associations for other ancestry groups may be missed. Not including diverse populations in genomics research can further WIDEN disparities!
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A new study demonstrates the importance of retesting patients with previously uninformative cancer genetics evaluations, especially in high risk individuals. Read the full article at this link for more info: https://pubmed.ncbi.nlm.nih.gov/34545504/ ๐โ Reference: Dettwyler et al. Fam Cancer. 2022; DOI: 10.1007/s10689-021-00276-8. PMID: 34545504
Permanent link to this article: https://inheritedcancer.net/post121322/
A recent study including data from ICARE participants found similar rates of bilateral mastectomy across high (BRCA1, BRCA2, PALB2) and moderate (ATM, CHEK2) penetrance genes. The high rates of bilateral mastectomies seen in those with moderate penetrance genes is concerning for overtreatment. Use the link to learn more: https://jamanetwork.com/journals/jamaoncology/fullarticle/2797978?guestAccessKey=fe9a3a20-8623-4feb-a0c5-315ad43a8fcb&utm_source=jps&utm_medium=email&utm_campaign=author_alert-jamanetwork&utm_content=author-author_engagement&utm_term=1m Reference: Reid et al. Receipt of …
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This week is Cancer Screen Week! This week we would like to highlight the importance of screening for inherited cancer to help prevent cancer and find it early. Talk to your healthcare provider today about what screenings are best for you.
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A newly published study reports that the type of CHEK2 mutation leads to different cancer risks. Read the full article at this link: https://jamanetwork.com/journals/jamaoncology/fullarticle/2796767 Reference: Bychkovsky BL, et al. JAMA Oncol. 2022 Sep 22;e224071. PMID: 36136322.
Permanent link to this article: https://inheritedcancer.net/post112122-2/
In every ICARE newsletter we give our participants the opportunity to have a question addressed by an expert in the field. In the latest edition, Dr. Kamran Idrees, Chief of the Division of Surgical Oncology & Endocrine Surgery, Associate Professor of Surgery, Ingram Associate Professor of Cancer Research, and Director of Pancreatic and Gastro-Intestinal Surgical …
Permanent link to this article: https://inheritedcancer.net/post111122/
The Expert Panel Consensus, chaired by the Society of Surgical Oncology with the American Society of Clinical Oncology and the American Society of Radiation Oncology, published new recommendations for hereditary breast cancer treatment. Learn more at https://pubmed.ncbi.nlm.nih.gov/32898012/ Reference: Corso & Magnoni. Eur J Cancer Prev. 2021;30(4):311-314. PMID: 32898012.
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The ICARE Fall 2022 Newsletter is now available! Check out this latest edition for recent research and clinical updates, a Q&A with Dr. Kamran Idrees from Vanderbilt-Ingram Cancer Center, and an inspiring community spotlight piece. You can read and download a copy of the newsletter at: https://inheritedcancer.net/newsletters/ Please feel free to share with family members, …
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Have you already had genetic testing for inherited cancer and want to get more education and information about what your results mean for you? We provide free education about inherited cancer risk through our Tool for Inherited Cancer Predisposition Counseling and Testing Study (TIPS). Visit https://redcap.link/TIPS and complete our survey. Once completed, we provide:โข an …
Permanent link to this article: https://inheritedcancer.net/post102422/
National Mammography Day is observed annually on the third Friday of every October. Today acts as reminder to everyone that early detection is the best defense against breast cancer!
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October 13th is Metastatic Breast Cancer Awareness Day. Today is a day to raise awareness about the importance of furthering cancer research.
Permanent link to this article: https://inheritedcancer.net/post101322/
On September 7th, 2022, the National Comprehensive Cancer Network (NCCN) released new breast, ovarian, and pancreatic cancer guidelines. In these new guidelines, genetic testing eligibility based on age at breast cancer diagnosis in females was updated from โค 45 to โค 50 making more females with breast cancer eligible for testing regardless of family history …
Permanent link to this article: https://inheritedcancer.net/post101022/
Have you heard of the CanRisk Tool?The CanRisk Tool provides health care professionals a user-friendly resource to carry out breast and ovarian cancer risk predictions. It is the first freely accessible cancer risk prediction program!Read the full article at the link: https://pubmed.ncbi.nlm.nih.gov/33335023/ Reference: Carver et al. Cancer Epidemiol Biomarkers Prev. 2021 Mar;30(3):469-473. PMID: 33335023.
Permanent link to this article: https://inheritedcancer.net/post100722-2/
On September 7th, 2022, the National Comprehensive Cancer Network (NCCN) released new breast, ovarian, and pancreatic cancer guidelines. In these new guidelines, the age to start breast MRI screening in female ATM and CHEK2 carriers was updated from age 40 to 30-35 making more females eligible for screening at an earlier age.Check out the new …
Permanent link to this article: https://inheritedcancer.net/post100222/
A study found that adult weight gain is a risk factor for ovarian cancer. This highlights the importance for BRCA1/2 carriers to maintain a healthy weight throughout adulthood.โ Read the full article to learn more! โ https://pubmed.ncbi.nlm.nih.gov/34426412/โ Reference: Kim et al. Cancer Epidemiol Biomarkers Prev. 2021 Nov;30(11):2038-2043. PMID: 34426412.
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Three recent studies found varying results when evaluating breast cancer risk in BRCA1/2 carriers with risk-reducing salpingo-oophorectomy (RRSO). Use these links to learn more: https://pubmed.ncbi.nlm.nih.gov/31948486/ https://pubmed.ncbi.nlm.nih.gov/33630024/ https://pubmed.ncbi.nlm.nih.gov/35216860/
Permanent link to this article: https://inheritedcancer.net/post92722/
A recent study showed hormone replacement therapy (HRT) is reasonable to offer to BRCA1 and BRCA2 carriers who underwent risk-reducing salpingo-oophorectomy (RSSO). Read the full article at this link: https://pubmed.ncbi.nlm.nih.gov/32143914/Reference: Mills, et al. Gynecol Oncol; 2020 Jun;157(3):706-710. PMID: 32143914.
Permanent link to this article: https://inheritedcancer.net/post2922/
A recent study, including ICARE participants, found preventive removal of the ovaries does not reduce breast cancer risk in BRCA1 carriers. These findings highlight that study bias can influence results.Read the full article at this link: https://pubmed.ncbi.nlm.nih.gov/35477169/โ Reference: Kotsopoulos et al. Cancer Epidemiol Biomarkers Prev. 2022 Jul 1;31(7):1351-1358. PMID: 35477169.
Permanent link to this article: https://inheritedcancer.net/icare-social-media-post-september-2022-bilateral-oophorectomy-breast-cancer-risks-in-brca1-carriers/
On September 7th, 2022, the National Comprehensive Cancer Network (NCCN) released new breast, ovarian, and pancreatic cancer guidelines. In this new version, a table was added at the end of the guidelines to summarize inherited cancer content across ๐ฎ๐น๐น NCCN guidelines, including live links to the guidelines and sections referenced (see page 54 on the …
Permanent link to this article: https://inheritedcancer.net/post92222/
A new study suggests oral contraceptives and implants lower risk of ovarian cancer in BRCA1/2 carriers.Read the full article at the link: https://pubmed.ncbi.nlm.nih.gov/35063280/Reference: Xia et al. Gynecol Oncol. 2022;164(3):514-521. doi:10.1016/j.ygyno.2022.01.014. PMID: 35063280.
Permanent link to this article: https://inheritedcancer.net/post92122/
A recent study found that even though ATM has been clearly identified as a breast cancer risk gene with an estimated risk of 13% up to age 80, variant-specific penetrance estimates are needed to guide risk management plans for those with pathogenic mutations.Read the full article at the link: https://pubmed.ncbi.nlm.nih.gov/35365198/Reference: Renault et al. Breast Cancer …
Permanent link to this article: https://inheritedcancer.net/post91922/
On September 7th, 2022, the National Comprehensive Cancer Network (NCCN) released new breast, ovarian, and pancreatic cancer guidelines.Check out the new guidelines at:https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf
Permanent link to this article: https://inheritedcancer.net/post91222/
We are excited to announce that our next ICARE genetics case conference, focused on TERT mutations in myeloid malignancies, will be broadly accessible. We are honored to have Mary Armanios, MD as our guest expert for this conference, in which she will provide a featured presentation and case commentary. We encourage you to join us …
Permanent link to this article: https://inheritedcancer.net/post90822/
According to a recent study, a bilateral prophylactic nipple-sparing mastectomy appears to be at least equally as safe as other types of mastectomy for preventing breast cancer. Read the full article at the link: https://pubmed.ncbi.nlm.nih.gov/34342702/Reference: Stanek et al. Aesthetic Plast Surg. 2022 Apr;46(2):706-711. PMID: 34342702.
Permanent link to this article: https://inheritedcancer.net/post82922/
ATM variants are linked to an increased risk of breast cancer, with the ATM V2424G variant causing the highest risks and ATM D1853V, L546V, and S707P variants being the least predictive.Read the full article here: https://pubmed.ncbi.nlm.nih.gov/33402103/Reference: Moslemi, et al. BMC Cancer. 2021 Jan 5;21(1):27. PMID: 33402103.
Permanent link to this article: https://inheritedcancer.net/post81922/
A new report found that regular aspirin use was associated with a 13% reduction in ovarian cancer risk. Read the full article at the link: https://ascopubs.org/doi/abs/10.1200/JCO.21.01900Reference: Hurwitz et al. J Clin Oncol. 2022. PMID: 35867953.
Permanent link to this article: https://inheritedcancer.net/post81222/
A new study reports that maintenance treatment with Olaparib may benefit BRCA1/2 carriers with pancreatic cancer. These findings demonstrated:โ long-term survival was more commontime to subsequent therapy was prolongedRead the full article at the link: https://ascopubs.org/doi/pdf/10.1200/JCO.21.01604โ Reference: Kindler et al. J Clin Oncol. 2022; JCO2101604. PMID: 35834777.
Permanent link to this article: https://inheritedcancer.net/post80522/
A recent study found that earlier diagnosis improved survival in people at high risk of pancreatic cancer.High risk was defined based on:family history and/orinherited gene mutation (BRCA1, BRCA2, CDKN2A, Lynch Syndrome genes, PALB2, ATM, and STK11)Read the article at the link: https://ascopost.com/news/june-2022/outcomes-of-pancreas-surveillance-in-the-caps5-study-and-total-caps-cohort/Reference: Dbouk, et al. J Clin Oncol. 2022 Jun 15:JCO2200298. doi: 10.1200/JCO.22.00298. PMID: 35704792.
Permanent link to this article: https://inheritedcancer.net/post72622/
A recent study found that pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with multiple cancers. Specifically, moderate-to-high risks for pancreatic, prostate, gastric, and invasive ductal breast cancers, and low-to-moderate risks for ductal carcinoma in situ, male breast cancer, ovarian cancer, colorectal cancer, and melanoma.This provides more data to guide risks and …
Permanent link to this article: https://inheritedcancer.net/post62122/
A recent small study suggests that immunotherapy may be beneficial for patients with refractory pancreatic or biliary cancer who have inherited homologous recombination deficiency (HRD) genes, BRCA1, BRCA2, and RAD51C.Check out the full article to learn more at ๐https://jamanetwork.com/journals/jamaoncology/article-abstract/2791557Reference: Terrero et al. JAMA Oncol. 2022 Apr:e220611. doi:10.1001/jamaoncol.2022.0611. PMID: 35446342.
Permanent link to this article: https://inheritedcancer.net/post61322/
A new study found that results of noninvasive prenatal testing for fetal aneuploidy screening using cell-free DNA derived from maternal plasma raised suspicion of maternal malignancy in a small proportion of pregnant women. However, among those with suspicious findings, the risk of a confirmed malignancy was quite high.Check out the full article athttps://ascopubs.org/doi/full/10.1200/JCO.21.02260Reference: Heesterbeek et …
Permanent link to this article: https://inheritedcancer.net/post60822/
A new study evaluated 23 hereditary cancer genes and found 19 new gene associations, including 7 new associations with cancer and 12 new associations with non-neoplastic diseases. Specifically, the below genes were found to have an increased risk of disease:APC: benign liver/bile duct tumors, gastritis, and duodenitisATM: stomach cancer and pancreatic cancerBRCA1/2: ovarian cystsCHEK2: leukemia …
Permanent link to this article: https://inheritedcancer.net/post60122/
A new study found that among BRCA1/2 carriers, the presence of tubal intraepithelial carcinoma during risk-reducing salpingo-oophorectomy (i.e., preventive surgery to remove the ovaries and fallopian tubes) predicts the risk of later peritoneal cancer. These findings demonstrate:the importance of timely risk-reducing removal of the ovaries and fallopian tubesthat it is VERY important to have a …
Permanent link to this article: https://inheritedcancer.net/post52422/
A recent study in women of African ancestry confirmed genes previously identified to have associations with breast cancer risk (BRCA1, BRCA2, PALB2, ATM, TP53, NF1, and CHEK2) and provided new evidence of breast cancer risk for RAD51C and RAD51D, which was identified previously in European ancestry populations.Check out the full article at ๐https://pubmed.ncbi.nlm.nih.gov/35396981/Reference: Dรญaz-Zabala, et …
Permanent link to this article: https://inheritedcancer.net/post51722/
Results from a small study suggest that melanomas in CDKN2A carriers may have better response rates to immunotherapy compared to non-carriers.Read the article to learn more!https://pubmed.ncbi.nlm.nih.gov/30291219/Reference: Helgadottir et al. J Med Genet. 2020 May;57(5): 316-321. PMID: 30291219.
Permanent link to this article: https://inheritedcancer.net/post51022/
Did you know that CDKN2A mutations are found in 35-43% of families with three or more family members with melanoma?Read the article to learn more!https://pubmed.ncbi.nlm.nih.gov/33945383/Reference: Pissa et al. Acta Oncol. 2021 Jul;60(7):888-896. PMID: 33945383.
Permanent link to this article: https://inheritedcancer.net/post50622/
In every ICARE newsletter we give our participants the opportunity to have a question addressed by an expert in the field. In the latest edition, ICARE Founder, Dr. Tuya Pal, and her oncology colleague, Dr. Sonya Reid, discuss the types of inherited breast cancer and whether having an inherited form of breast cancer affects survival.Check …
Permanent link to this article: https://inheritedcancer.net/post42922/
A recent study found that non-Hispanic Black and Hispanic women are underrepresented in clinical trials evaluating PARP inhibitor use among ovarian cancer patients; therefore, these trials do not accurately represent the ovarian cancer patient population. These findings indicate initiatives to increase diversity in clinical trials are needed. Read the full article for more information ๐https://www.gynecologiconcology-online.net/article/S0090-8258(22)00071-3/fulltext#secst0030Reference: …
Permanent link to this article: https://inheritedcancer.net/post42222/
A new study found that adjuvant olaparib significantly extended survival in BRCA1/2 carriers with HER2-negative high-risk early-stage breast cancer. Learn more at the following link: https://www.healio.com/news/hematology-oncology/20220323/adjuvant-olaparib-prolongs-survival-for-certain-patients-with-early-breast-cancer
Permanent link to this article: https://inheritedcancer.net/post41922/
Read the full article for more information!https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(22)00017-1/fulltextReference: Thiery-Vuillemin, et al. Lancet Oncol. 2022 Mar;23(3):393-405. PMID: 35157830.
Permanent link to this article: https://inheritedcancer.net/post40822/
Permanent link to this article: https://inheritedcancer.net/post40522/
A new study suggests that annual breast MRI screening may reduce deaths from breast cancer by half in women with ATM, CHEK2 and PALB2 gene mutations. The data suggests starting with annual breast MRIs between the ages of 30 to 35, and adding annual mammograms starting at age 40. Read the full article to learn …
Permanent link to this article: https://inheritedcancer.net/post40122/
A new study highlights the importance of customizing mutation carrier prediction models in order to improve the accuracy of predicting the likelihood of carrying a BRCA mutation in Asian breast cancer patients.Read the article for more info!https://ascopubs.org/doi/abs/10.1200/JCO.21.01647?cid=DM9826&bid=143994923Reference: Hong Ang et al. J Clin Oncol. 2022 Feb 10;JCO2101647. PMID: 35143328.
Permanent link to this article: https://inheritedcancer.net/post32522/
Did you know breast cancer surpassed lung cancer as the leading cause of cancer death among Black women in the United States? Although Black women are at a lower risk for developing breast cancer, they are 41% more likely to die of breast cancer compared with White women.Future research is needed to reverse course, through …
Permanent link to this article: https://inheritedcancer.net/post31722/
On March 11th, the Food and Drug Administration (FDA) approved olaparib (Lynparza) for the adjuvant treatment of BRCA1/2 carriers with human epidermal growth factor receptor 2 (HER2)-negative, high-risk early breast cancer who have been treated with neoadjuvant or adjuvant chemotherapy.Learn more at ๐https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-adjuvant-treatment-high-risk-early-breast-cancer
Permanent link to this article: https://inheritedcancer.net/post31522/
Komen Scholar, ICARE Founder and Clinical Geneticist, Dr. Tuya Pal, was recently interviewed for the Komen Blog. In the interview, Dr. Pal discusses the importance of making genetic counseling and testing more accessible in order to help populations who are at high risk for inherited cancer make more informed decisions about their medical care.Read the …
Permanent link to this article: https://inheritedcancer.net/post30922/
A new study indicated treatment with pembrolizumab (Ketruda) resulted in benefit in patients with MSI-H advanced uterine cancer. Read the full article to learn more!https://ascopubs.org/doi/10.1200/JCO.21.01874Reference: O’Malley et al. J Clin Oncol. 2022 Jan 6;JCO2101874. PMID: 34990208.
Permanent link to this article: https://inheritedcancer.net/post30122/
A recent study found that only about 33% of women with ovarian cancer undergo germline BRCA1/2 testing, despite universal recommendations for such patients to have germline genetic testing. Check out the article for more information!https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2787937?resultClick=3Reference: Cham et al. JAMA Netw Open. 2022 Jan 4;5(1):e2142703. PMID: 35015069.
Permanent link to this article: https://inheritedcancer.net/post22122/
A recent study found there were BETTER short-term outcomes among women with:โข triple-negative breast cancer and BRCA1 or BRCA2 mutationsโข ovarian cancer and BRCA2, BRIP1, RAD51C, or ATM mutationsThese findings may be reassuring to individuals with inherited gene mutations related to breast and ovarian cancer. Read the article to learn more!https://pubmed.ncbi.nlm.nih.gov/34373918/Reference: Kurian et al. J …
Permanent link to this article: https://inheritedcancer.net/post21822/
A new study found that among BRCA1/2 carriers oral contraceptive use strongly decreases lifetime cancer risk, despite an ๐ถ๐ป๐ถ๐๐ถ๐ฎ๐น increase in breast, ovarian, and endometrial cancer risk. Read the full article to learn more!https://pubmed.ncbi.nlm.nih.gov/35048954/Reference: Schrijver et al. J Natl Cancer Inst. 2022 Jan 20;djac004. PMID: 35048954
Permanent link to this article: https://inheritedcancer.net/post21522/
Permanent link to this article: https://inheritedcancer.net/post20822/
A new study demonstrated that breast cancer pathology and other clinical features differ by inherited breast cancer gene. Read the full article to learn more!https://jamanetwork.com/journals/jamaoncology/fullarticle/2788577Reference: Breast Cancer Association Consortium. JAMA Oncol. 2022 Jan 27. PMID: 35084436
Permanent link to this article: https://inheritedcancer.net/post20122/
A new study found that male BRCA1/2 carriers have a higher risk for breast, pancreatic, and stomach cancer. Additionally, male BRCA2 carriers were found to have higher risks for prostate cancer. Read the full Journal of Clinical Oncology article to learn more!https://ascopubs.org/doi/full/10.1200/JCO.21.02112Reference: Li et al. J Clin Oncol. 2022 Jan 25;JCO2102112. PMID: 35077220.
Permanent link to this article: https://inheritedcancer.net/post12822/
A recent article by Drs. Sonya Reid, Tuya Pal, and Lucy Spalluto, and Katie Lang, MS, CGC and Anne Weidner, MPH of the ICARE team, has just been published with @SpringerNature in ๐๐ณ๐ฆ๐ข๐ด๐ต ๐๐ข๐ฏ๐ค๐ฆ๐ณ ๐๐ฆ๐ด๐ฆ๐ข๐ณ๐ค๐ฉ ๐ข๐ฏ๐ฅ ๐๐ณ๐ฆ๐ข๐ต๐ฎ๐ฆ๐ฏ๐ต. This article outlines the importance of genetic services and follow-up care for hereditary breast cancer, as well as …
Permanent link to this article: https://inheritedcancer.net/post12622/
A study that included ICARE participants reported the risk of developing breast cancer remains high after age 60 in both BRCA1 and BRCA2 carriers. Read the article to learn more!https://pubmed.ncbi.nlm.nih.gov/33423179/Reference: Stjepanovic et al. Breast Cancer Res Treat. 2021 Jun;187(2):515-523. PMID: 33423179
Permanent link to this article: https://inheritedcancer.net/post12522/
Jan 21
Belzutifan demonstrated clinical efficacy in patients with renal cell carcinoma who have Von Hippel-Lindau Disease. Learn more by reading the full The New England Journal of Medicine article at ๐https://www.nejm.org/doi/full/10.1056/NEJMoa2103425Reference: Jonasch, et al. N Engl J Med. 2021 Nov 25;385(22):2036-2046. PMID: 34818478.
Permanent link to this article: https://inheritedcancer.net/post12122/
Estimating Polygenetic Risk Scores in non-Europeans through extrapolating from data in European descent populations is not accurate! Diversity in genomic studies is critically needed for both equity and scientific discovery. For more information, read the Genetics in Medicine editorial by ICARE Founder, Dr. Tuya Pal, here ๐https://www.gimjournal.org/article/S1098-3600(21)05396-X/fulltextReference: Pal. Genet Med. 2021 Nov 20;S1098-3600(21)05396-X. PMID: 34906472.
Permanent link to this article: https://inheritedcancer.net/post11822/
Read the ๐๐๐๐ ๐๐ถ๐ณ๐จ๐ฆ๐ณ๐บ article to learn morehttps://jamanetwork.com/journals/jamasurgery/article-abstract/2785097Reference: Gamble et al. JAMA Surg. 2021 Oct 13;e215118. PMID: 34643667.
Permanent link to this article: https://inheritedcancer.net/post11122/
Read the full article for more details ๐https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(21)00531-3/fulltextReference: Banerjee et al. Lancet Oncol. 2021 Dec;22(12):1721-1731. PMID: 34715071.
Permanent link to this article: https://inheritedcancer.net/post10422/
In every ICARE newsletter we feature a ๐ฐ๐ผ๐บ๐บ๐๐ป๐ถ๐๐ ๐๐ฝ๐ผ๐๐น๐ถ๐ด๐ต๐ to share their experience with inherited cancer. In the latest edition, Dan Dry Dock Shockley, shares his experience with attenuated familial adenomatous polyposis (AFAP). Check out his full story at ๐https://inheritedcancer.net/community-spotlight/
Permanent link to this article: https://inheritedcancer.net/post123021/
In every ICARE newsletter we give our participants the opportunity to have a question addressed by an expert in the field. In the latest edition, Dr. Kerry Schaffer discusses the use of PARP inhibitors to treat inherited forms of prostate cancer.Check out Dr. Schaffer’s full response at ๐https://inheritedcancer.net/newsletters/
Permanent link to this article: https://inheritedcancer.net/post122821/
A new breast cancer model has been developed and validated for breast cancer risk prediction, specifically for Black women in the United States. This is in contrast to prior models, which were developed in White women, and used in Black women (which UNDERPREDICTED risks). This is a notable advance as we strive towards health equity …
Permanent link to this article: https://inheritedcancer.net/post122321/
โข Several variants were identified multiple times in those who did and did not meet Li-Fraumeni Syndrome clinical criteria: p.R175, p.G245, p.R248, p.R273, and p.R282โข Other variants were exclusively found in those in the Li-Fraumeni Syndrome group: p.M133T, p.P152L, p.C275Y, p.C275, p.R337C, p.R342, and p.R342Pโข One variant was exclusively found in patients with attenuated Li-Fraumeni …
Permanent link to this article: https://inheritedcancer.net/post122121/
A new study suggests men with MSH2 and MSH6 mutations have a higher incidence of prostate cancer, and may be candidates for PSA screening. Read the full article to learn more ๐ https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(21)00522-2/fulltext Reference: Bancroft et al. Lancet Oncol. 2021 Nov;22(11):1618-1631. PMID: 34678156.
Permanent link to this article: https://inheritedcancer.net/post121721/
On August 13th, the FDA approved the use of belzutifan (Welireg) for adult patients with von Hippel-Lindau (VHL) disease who require therapy for associated renal cell carcinoma, central nervous system hemangioblastomas, or pancreatic neuroendocrine tumors not requiring immediate surgery. For more information, check out The ASCO Post article at ๐https://ascopost.com/news/august-2021/fda-approves-belzutifan-for-cancers-associated-with-von-hippel-lindau-disease/?utm_source=TAP-EN-081321&utm_medium=email&utm_term=49cf1c97d48c2cf8231827e3bcb15769
Permanent link to this article: https://inheritedcancer.net/post121021/
FDA granted priority review to Olaparib for adjuvant treatment of certain patients with high-risk breast cancer. This designation applies to use of the agent by patients with BRCA-mutated, HER2-negative, high-risk early breast cancer who receive chemotherapy before or after surgery. For additional information, visit: https://tinyurl.com/healioFDAapproval
Permanent link to this article: https://inheritedcancer.net/post120621/
A recent article ๐น๐ฒ๐ฑ ๐ฏ๐ ๐๐ฟ๐. ๐ฆ๐ผ๐ป๐๐ฎ ๐ฅ๐ฒ๐ถ๐ฑ ๐ฎ๐ป๐ฑ ๐ง๐๐๐ฎ ๐ฃ๐ฎ๐น ๐ผ๐ณ ๐๐ต๐ฒ ๐๐๐๐ฅ๐ ๐๐ฒ๐ฎ๐บ, published in ๐๐ณ๐ฆ๐ข๐ด๐ต ๐๐ข๐ฏ๐ค๐ฆ๐ณ ๐๐ฆ๐ด๐ฆ๐ข๐ณ๐ค๐ฉ ๐ข๐ฏ๐ฅ ๐๐ณ๐ฆ๐ข๐ต๐ฎ๐ฆ๐ฏ๐ต, outlines the impact of race and molecular subtype on HR+, HER2- breast cancer survival. Check out the full article at https://link.springer.com/content/pdf/10.1007/s10549-021-06342-0.pdf Reference: Reid et al. Breast Cancer Res Treat. 2021 Oct;189(3):845-852. PMID: 34331630.
Permanent link to this article: https://inheritedcancer.net/post120321/
For more information, read the Lancet Oncology article led by The International Mismatch Repair Consortium at the below link ๐https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(21)00189-3/fulltext Reference: International Mismatch Repair Consortium. Lancet Oncol. 2021 Jul;22(7):1014-1022. PMID: 34111421.
Permanent link to this article: https://inheritedcancer.net/post113021/
For more information, view the article at ๐https://academic.oup.com/jnci/advance-article/doi/10.1093/jnci/djab141/6323231 Reference: Johnson et al. PMID: 34291289.
Permanent link to this article: https://inheritedcancer.net/post110921/
For more information, read the full article at: https://jamanetwork.com/journals/jamainternalmedicine/fullarticle/2782345
Permanent link to this article: https://inheritedcancer.net/post110221/
For more information, read the full article at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2783767 Reference: Hsu, et al. JAMA Oncol. 2021 Sep 16:e213701. PMID: 34529012.
Permanent link to this article: https://inheritedcancer.net/post100121/
Check out the full ๐๐๐ ๐๐ฐ๐ฅ๐ข๐บ article, featuring commentary from Dr. Tuya Pal (ICARE Founder), highlighting the importance of PALB2 as an inherited breast cancer gene: https://www.futureofpersonalhealth.com/breast-health/fighting-cancer-with-your-own-family-history/# Additional guidance is available through an impactful PALB2 practice resource recently published through ACMG: https://www.acmg.net/PDFLibrary/41436_2021_1151_OnlinePDF.pdf Reference: Tischkowitz, et al. Genet Med. 2021 Aug;23(8):1416-1423. PMID: 33976419
Permanent link to this article: https://inheritedcancer.net/post92221/
The National Comprehensive Cancer Network (NCCN) released new guidelines on August 11th for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. You can check out the full guidelines by creating a FREE account at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf
Permanent link to this article: https://inheritedcancer.net/post91021/
To view the 30 consensus statements, read the full article at: https://acsjournals.onlinelibrary.wiley.com/doi/10.1002/cncr.33679
Permanent link to this article: https://inheritedcancer.net/post83121/
For more information, view the article at ๐https://ascopubs.org/doi/full/10.1200/JCO.21.00531
Permanent link to this article: https://inheritedcancer.net/post82421/
For additional information, read the Journal of Clinical Oncology article at the link below ๐ https://ascopubs.org/doi/10.1200/JCO.20.01200
Permanent link to this article: https://inheritedcancer.net/post82021/
A New York Times article just published focused on the importance of PALB2 as a breast cancer gene (https://www.nytimes.com/โฆ/breast-cancer-palb2-brca.html), which referenced our recent article focused on managing PALB2 carriers sponsored by ACMG – American College of Medical Genetics and Genomics, and developed through a worldwide collaboration (including: Marc Tischkowicz, Judith Balmana, Will Foulkes, Paul James, …
Permanent link to this article: https://inheritedcancer.net/post81921/
Check out the article for more information: https://ascopubs.org/doi/pdf/10.1200/JCO.20.03661
Permanent link to this article: https://inheritedcancer.net/post81621/
For more information, read the ๐๐ฐ๐ถ๐ณ๐ฏ๐ข๐ญ ๐ฐ๐ง ๐๐ญ๐ช๐ฏ๐ช๐ค๐ข๐ญ ๐๐ฏ๐ค๐ฐ๐ญ๐ฐ๐จ๐บ article at the link below:https://ascopubs.org/doi/figure/10.1200/JCO.20.01992
Permanent link to this article: https://inheritedcancer.net/post81321/
For additional information, read the updated American Society of Clinical Oncology (ASCO) recommendation (released June 15th, 2021) at the following link: https://www.asco.org/practice-patients/guidelines/breast-cancer?intcmp=ws_ascoorg_gdlns_hereditarybreastcancer_site_pressrelease_061621____#/143725
Permanent link to this article: https://inheritedcancer.net/post81021/
For more information, view the AJOG article by Lieske Schrijver and colleagues at the following link: https://www.ajog.org/article/S0002-9378(21)00038-7/fulltext
Permanent link to this article: https://inheritedcancer.net/post80621/
For more information, view the article at: https://ascopubs.org/doi/full/10.1200/GO.21.00051
Permanent link to this article: https://inheritedcancer.net/post80321/
For more information, view the article at: https://ascopubs.org/doi/10.1200/PO.20.00525
Permanent link to this article: https://inheritedcancer.net/post72721/
For additional information, read the article at the link below: https://academic.oup.com/ajcn/article-abstract/113/4/810/6155851
Permanent link to this article: https://inheritedcancer.net/post72021/
For more information visit: https://www.cancernetwork.com/view/multi-trial-analysis-indicates-niraparib-maintenance-for-brca-ovarian-cancer-leads-to-pfs-benefit-across-settings
Permanent link to this article: https://inheritedcancer.net/post71621/
Check out the full article for more information: https://academic.oup.com/jnci/advance-article/doi/10.1093/jnci/djab006/6117446
Permanent link to this article: https://inheritedcancer.net/post71321/
Check out the Nature Communications article for more information: https://www.nature.com/articles/s41467-021-22582-6
Permanent link to this article: https://inheritedcancer.net/post70921/
For more information, view the article at the following link below: https://ascopubs.org/doi/abs/10.1200/JCO.21.00003 You may also read the ASCO post article at: https://ascopost.com/news/may-2021/maintenance-rucaparib-in-patients-with-platinum-sensitive-pancreatic-cancer-and-germline-or-somatic-brca1-brca2-or-palb2-variants/?utm_source=TAP%2DEN%2D051221%2DTrending%5FLymphoma&utm_medium=email&utm_term=49cf1c97d48c2cf8231827e3bcb15769
Permanent link to this article: https://inheritedcancer.net/post70621/
For more information, read the article available at: https://www.nature.com/articles/s41416-021-01410-0
Permanent link to this article: https://inheritedcancer.net/post70221/
For more information, please visit: https://www.cancertherapyadvisor.com/home/news/conference-coverage/st-gallen-international-breast-cancer-conference/sg-bcc-2021/breast-cancer-screening-brca-improves-survival-mutation
Permanent link to this article: https://inheritedcancer.net/post62921/
For additional information, read the article at the following link: https://www.nejm.org/doi/10.1056/NEJMoa2005936
Permanent link to this article: https://inheritedcancer.net/post62521/
For more information, view the article at: https://pubmed.ncbi.nlm.nih.gov/33609447/
Permanent link to this article: https://inheritedcancer.net/post62221/
For more information, view the article at: https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2776805
Permanent link to this article: https://inheritedcancer.net/post61521/
For more information view the article at: https://www.nejm.org/doi/full/10.1056/NEJMoa2105215
Permanent link to this article: https://inheritedcancer.net/post61121/
For more information, view the article at the following link: https://ascopubs.org/doi/full/10.1200/PO.20.00418
Permanent link to this article: https://inheritedcancer.net/post52821/
In recognition of ๐ช๐ผ๐บ๐ฒ๐ป’๐ ๐๐ฒ๐ฎ๐น๐๐ต ๐ ๐ผ๐ป๐๐ต, listen to our colleague, Dr. Sonya Reid, talk about the importance of mammography for the early detection of breast cancer! To learn more, check out the American Cancer Society’s Recommendations for the Early Detection of Breast Cancer at: https://www.cancer.org/cancer/breast-cancer/screening-tests-and-early-detection/american-cancer-society-recommendations-for-the-early-detection-of-breast-cancer.html
Permanent link to this article: https://inheritedcancer.net/post52421/
The United States Preventive Services Task Force (USPSTF) now recommends routine colorectal cancer screening begin at age 45 (lowered from the previous recommendation to start screening at age 50) due to an increasing number of colorectal cancer cases in younger adults. For more information, check out the full JAMA article at: https://jamanetwork.com/journals/jama/fullarticle/2779985
Permanent link to this article: https://inheritedcancer.net/post52121/
The American College of Medical Genetics and Genomics (ACMG) recently released the highly anticipated recommended minimum gene list for reporting secondary findings (SF) in clinical exome and genome sequencing. ACMG SF v3.0 added 3 new cancer genes (๐๐๐๐2, ๐๐๐, and ๐๐๐๐127) to bring the total number of inherited cancer genes to 28. For more information …
Permanent link to this article: https://inheritedcancer.net/post52121_2/
For more information, read the article available at: https://ascopubs.org/doi/full/10.1200/JCO.20.02220
Permanent link to this article: https://inheritedcancer.net/post51821/
๐๐ฏ ๐ณ๐ฆ๐ค๐ฐ๐จ๐ฏ๐ช๐ต๐ช๐ฐ๐ฏ ๐ฐ๐ง ๐ด๐ฌ๐ช๐ฏ ๐ค๐ข๐ฏ๐ค๐ฆ๐ณ ๐ข๐ธ๐ข๐ณ๐ฆ๐ฏ๐ฆ๐ด๐ด ๐ฎ๐ฐ๐ฏ๐ต๐ฉ, we present cancer risks and management for ๐๐๐๐ก๐ฎ๐ per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Version 2.2021 ๐ ๐ฒ๐ป & ๐ช๐ผ๐บ๐ฒ๐ป:Melanoma risk: Elevated at 28-67% – Recommend annual full-body skin exam, regular self-examinations, and routine sun protective behaviors. Pancreatic cancer risk: >15% – Consider MRI/MRCP and/or endoscopic …
Permanent link to this article: https://inheritedcancer.net/post51321/
Check out the newly released ACMG Clinical Practice Resource on ๐ฃ๐๐๐๐ฎ developed through a group of worldwide experts!https://www.acmg.net/PDFLibrary/41436_2021_1151_OnlinePDF.pdf Read the ACMG press release at: https://www.acmg.net/PDFLibrary/Global%20Team%20of%20Cancer%20Genetic%20Specialists%20release%20final%20template%205%206.final.pdf
Permanent link to this article: https://inheritedcancer.net/post51121/
For additional information, view the BMJ article available at: ๐ https://www.bmj.com/content/372/bmj.n214
Permanent link to this article: https://inheritedcancer.net/post50321/
The ๐๐๐๐ช๐๐๐ฃ๐ ๐๐๐ง๐๐๐๐ฉ๐๐ง๐ฎ ๐พ๐๐ฃ๐๐๐ง ๐ผ๐๐ฉ is being proposed to ensure Medicare beneficiaries have access to inherited cancer genetic testing, increased screening, and risk-reducing procedures, when medically necessary & appropriate. Under current Medicare guidelines, only those with “signs, symptoms, complaints, or personal histories of disease” meet the criteria for medical services coverage. Genetic testing is only …
Permanent link to this article: https://inheritedcancer.net/post43021/
For more information, view the JAMA Oncology article available at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2776761
Permanent link to this article: https://inheritedcancer.net/post42821/
For more information, read the recently published ASCO Daily News editorial led by ๐๐ฟ. ๐ฆ๐ผ๐ป๐๐ฎ ๐ฅ๐ฒ๐ถ๐ฑ from Vanderbilt University Medical Center, which focused on racial disparities in breast cancer clinical trial enrollment: https://dailynews.ascopubs.org/do/10.1200/ADN.21.200499/full/
Permanent link to this article: https://inheritedcancer.net/post42321/
Check out Susan G. Komen’s “๐๐ป๐ผ๐ ๐ฌ๐ผ๐๐ฟ ๐๐ถ๐๐๐ผ๐ฟ๐, ๐๐ป๐ผ๐ ๐ฌ๐ผ๐๐ฟ ๐ฅ๐ถ๐๐ธ” resource, which outlines disparities in breast cancer, how to understand your risk, and recommended screening and management practices. To learn more, please visit: ๐ https://www.komen.org/about-komen/our-impact/breast-cancer/health-equities-initiative/know-your-history/ ๐ https://blog.komen.org/news/black-history-month/
Permanent link to this article: https://inheritedcancer.net/post42021/
For more information, view the article at: https://ascopubs.org/doi/abs/10.1200/JCO.20.02151
Permanent link to this article: https://inheritedcancer.net/post41321/
In every ICARE newsletter we give our participants the opportunity to have a question addressed by an expert in the field. In the latest edition, Dr. Rebecca Smith explains how a genetic change (or mutation) is classified as pathogenic or benign. Check out Dr. Smith’s full response in our Winter 2021 newsletter at: https://inheritedcancer.net/newsletters/
Permanent link to this article: https://inheritedcancer.net/post40921/
For further information, view the article available at:https://www.ahajournals.org/doi/abs/10.1161/CIRCULATIONAHA.120.048996
Permanent link to this article: https://inheritedcancer.net/post40621/
Check out a recent article led by the ICARE team, published in the Journal of Genetic Counseling, outlining family communication of genetic test results among female BRCA1/2, PALB2, CHEK2, and ATM carriers. Check out the full article at: https://onlinelibrary.wiley.com/doi/full/10.1002/jgc4.1356
Permanent link to this article: https://inheritedcancer.net/post40221/
Gene: STK11 Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 Women:Breast cancer risk: Elevated at 40-60% – Recommend annual mammogram and breast MRI starting at around age 30. Ovarian tumor risk (typically benign sex cord/Sertoli cell tumors): Elevated at 18-21% – Recommend annual pelvic exam starting at …
Permanent link to this article: https://inheritedcancer.net/post33021/
Gene: MUTYH Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 Men & women with two mutations in MUTYH:Colon cancer risk: High risk – Recommend colonoscopy every 1-2 years beginning at age 25-30; colectomy considered based on polyp burden and age. Duodenal cancer risk: Elevated – Consider baseline …
Permanent link to this article: https://inheritedcancer.net/post32321/
In every ICARE newsletter we feature a ๐ฐ๐ผ๐บ๐บ๐๐ป๐ถ๐๐ ๐๐ฝ๐ผ๐๐น๐ถ๐ด๐ต๐ to share their experience with inherited cancer. In the latest edition, Dave Dubin, co-founder of AliveAndKickn, shares his experience with Lynch Syndrome. Check out his full story at: https://inheritedcancer.net/community-spotlight/
Permanent link to this article: https://inheritedcancer.net/post31921/
๐๐ฒ๐ป๐ฒ: ๐๐ฃ๐ Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 ๐ ๐ฒ๐ป & ๐ช๐ผ๐บ๐ฒ๐ป:๐๐๐ mutation leading to classic form of Familial Adenomatous Polyposis (FAP):Colorectal cancer risk: >99% if untreated – Treatment is based on polyp burden and includes proctocolectomy (with subsequent endoscopic screening of the ileal pouch) or …
Permanent link to this article: https://inheritedcancer.net/post31621/
In honor of ๐๐ผ๐น๐ผ๐ฟ๐ฒ๐ฐ๐๐ฎ๐น ๐๐ฎ๐ป๐ฐ๐ฒ๐ฟ ๐๐๐ฎ๐ฟ๐ฒ๐ป๐ฒ๐๐ ๐ ๐ผ๐ป๐๐ต, we wanted to highlight the National Cancer Institute’s Colorectal Cancer Risk Assessment Tool (CCRAT) designed for healthcare providers to use with select patients to estimate the risk of colorectal cancer. You may access the tool at https://ccrisktool.cancer.gov
Permanent link to this article: https://inheritedcancer.net/post31221/
For additional information about the: ใUS-based study, visit: https://www.nejm.org
