A recent study showed that among men at highest risk for prostate cancer based on Polygenic Risk Score (PRS), more were found to have clinically significant disease (i.e., Gleason 7 or higher) than would have been found with PSA or MRI. In nearly 6,400 men who had PRS calculated:➡️ 745 (11.7%) had PRS in 90th …
Permanent link to this article: https://inheritedcancer.net/post061725/
Cascade testing refers to testing “at-risk” family members for a gene mutation, once the mutation has been found in a family member. For Lynch syndrome, once family members get cascade testing, they can also benefit from screening, cancer prevention, and early detection strategies. Findings of a microsimulation model looking at the cost effectiveness of cascade …
Permanent link to this article: https://inheritedcancer.net/post061025/
A new study among patients with Familial Adenomatous Polyposis (FAP), most of whom had a their colon removed to prevent cancer, found that although risk-reducing colectomy is now standard practice in FAP patients, colorectal cancer remains the most common cancer and cause of death in these patients. Recognizing cases of FAP that are ‘de novo’ …
Permanent link to this article: https://inheritedcancer.net/post52725/
A new study evaluating colonoscopy age in Lynch Syndrome patients with MSH6 and PMS2 mutations found that among MSH6 and PMS2 carriers, cancer was commonly found, even in those under age 30. Current recommendations suggest delaying colonoscopy until age 30 in these carriers, thus study authors suggest that this might lead to missed opportunities for …
Permanent link to this article: https://inheritedcancer.net/post42725/
A new international study in over 8000 BRCA1/2 carriers, which included data from ICARE participants, showed risk of pancreatic cancer to age 80 in BRCA1 was 2.2% (95% CI: 1.1%-4.3%) and in BRCA2 was 2.7% (95% CI: 1.3%-5.2%). Of the 34 BRCA1/2 carriers with pancreatic cancer, only 2 had a close (first-degree) relative with pancreatic …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2025-brca1-2-pancreatic-cancer-risks-in-women/
We recently published a study that brings attention to “reduced penetrance” BRCA1 and BRCA2 (BRCA) mutations, which lead to LOWER breast cancer risks than “typical” BRCA mutations.1 Specifically, these mutations lead to a lifetime breast cancer risk of 20-30%, similar to moderate penetrance breast cancer genes such as CHEK2 or ATM. This level of risk …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2025-working-towards-defining-a-new-category-of-reduced-penetrance-brca1-2-variants/
A panel of worldwide experts recently published recommendations for people with an ATM mutation, which raises the risk for breast, pancreatic, and prostate cancers. Among women Among men Among both women and men Check out an overview by Drs. Tischkowitz and Pal, who co-led this ATM effort, at: https://youtu.be/T76iGtn8_Do Pal T, et al. Genet Med. …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2025-acmg-guidelines-focused-on-risks-and-care-among-atm-carriers/
Below is a featured video from the April 2025 case conference, during which Brian Shirts, MD, PhD from Vanderbilt University Medical Center and Rachel Pearlman, MS, CGC from The Ohio State University highlight how connecting with relatives through publicly available platforms like ConnectMyVariant can lead to increased cascade testing
Permanent link to this article: https://inheritedcancer.net/video41025/
Mar 18
A new study reported on an 18-gene ‘MyProstateScore 2.0’ Test which: This test measures 18 cancer-associated and high-grade cancer-associated genes in the urine. Learn more at ⬇️https://www.auajournals.org/doi/10.1097/JU.0000000000004421#xd_co_f=MTdiMGE0YjctNzA5ZC00YTFiLTkzMmQtNzBkZDIzZDg0NzEz~ Reference: Tosoian, et al. J Urol. 2025. PMID: 39836866.
Permanent link to this article: https://inheritedcancer.net/post31825/
A preliminary study reported that a blood test to detect early-stage pancreatic cancer achieved 98% specificity & 73% sensitivity! The test could accurately distinguish pancreatic ductal adenocarcinoma (PDAC) from other non-cancer pancreatic conditions. Learn more at ⬇️https://www.science.org/doi/10.1126/scitranslmed.adq3110 Reference: Montoya Mira, et al. Sci Transl Med. 2025;17(785):eadq3110. PMID: 39937880.
Permanent link to this article: https://inheritedcancer.net/post31125_1/
Below is a featured video from the January 2025 case conference, during which Marc Tischkowitz, MD, PhD from the University of Cambridge and ICARE Founder, Tuya Pal, MD, discussed cancer risks and management among ATM heterozygotes.
Permanent link to this article: https://inheritedcancer.net/video10925/
A new international study in over 8000 BRCA1/2 carriers, including ICARE participants, showed lifetime pancreatic cancer risk to age 80 in: 👩👩👧👦 Of the 34 BRCA carriers with pancreatic cancer, 2 reported a first-degree relative with pancreatic cancer. ⚠️ Risk factors for pancreatic cancer include alcohol intake and history of diabetes. 📈 5-year survival rate …
Permanent link to this article: https://inheritedcancer.net/post121224/
Check out our recently published study that brings attention to “reduced penetrance” BRCA1 and BRCA2 (BRCA) pathogenic variants, which impart LOWER breast cancer risks than ‘typical’ BRCA mutations. Specifically, lifetime breast cancer risks for these reduced penetrance BRCA variants are 20-30% which is similar to that seen in moderate penetrance breast cancer genes (e.g., CHEK2 …
Permanent link to this article: https://inheritedcancer.net/post111124/
The National Comprehensive Cancer Network (NCCN) released updated Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer guidelines on September 11th, 2024 (Version 1.2025), which included the following CDKN2A updates ⤸ The CDKN2A gene produces two isoforms, both of which are tumor suppressors:➡️ p16INK4A and p14ARF For individuals with both of these isoforms, recommend:➡️ Skin exams …
Permanent link to this article: https://inheritedcancer.net/post110724/
The National Comprehensive Cancer Network (NCCN) released updated Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer guidelines on September 11th, 2024. In these updates, NCCN added consideration of pancreatic cancer screening for BRCA2 carriers as outlined in PANC-A 1 of 2 (Page 52). To read more, you can check out the full guidelines by creating …
Permanent link to this article: https://inheritedcancer.net/post110224/
A recent editorial highlights the value of personalized screening recommendations for CHEK2 carriers▪️ Notably, three common low-risk mutations (p.I157T, p.S428F, and p.T476M) impart a breast cancer risk of less than 1.4 fold▪️ This level of risk does not warrant high-risk breast screening or other heightened care Read the full article to learn more at: https://www.oncotarget.com/article/28604/pdf/ …
Permanent link to this article: https://inheritedcancer.net/post103124/
Below is a featured video from the October 2024 patient forum, during which patients had the opportunity to ask questions and discuss inherited breast cancers in men with our expert panelists
Permanent link to this article: https://inheritedcancer.net/video102924/
The National Comprehensive Cancer Network (NCCN) released updated Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer guidelines on September 11th, 2024. An important update includes consideration of pancreatic cancer screening for ATM and BRCA2 carriers even in the absence of family history as outlined in PANC-A 1 of 2 (PAGE 52). To read more, you …
Permanent link to this article: https://inheritedcancer.net/post102824_1/
The National Comprehensive Cancer Network (NCCN) released updated Genetic Familial High-Risk Assessment Colorectal, Endometrial, and Gastric Cancer guidelines on October 3rd, 2024. In these updated guidelines, NCCN revised information about EPCAM gene (which has usually been lumped together with MSH2) as follows ⤸ You can check out the full guidelines by creating a FREE account …
Permanent link to this article: https://inheritedcancer.net/post102224/
In honor of Breast Cancer Awareness month, we wanted to spread awareness about inherited breast cancer risks among men. Did you know that men with a BRCA2 mutation have about a 7% lifetime risk of breast cancer and those with a BRCA1 or PALB2 mutation have about a 1% lifetime risk of breast cancer? Thus, …
Permanent link to this article: https://inheritedcancer.net/post102124/
The National Comprehensive Cancer Network (NCCN) released updated Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer guidelines on September 11th, 2024. Some BRCA1 updates as outlined in GENE-A (Page 36) include ⤸ 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/post101924/
The National Comprehensive Cancer Network (NCCN) released updated Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer guidelines on September 11th, 2024. In these new guidelines, there were several updates for ATM carriers, including adding colorectal cancer risk as outlined in GENE-A (Page 35) and consideration of pancreatic cancer screening as outlined in PANC-A 1 of …
Permanent link to this article: https://inheritedcancer.net/post101724_1/
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/post101024/
Oct 09
CDH1 gastric cancer risk management options are included in the recently released National Comprehensive Cancer Network (NCCN) Genetic Familial High-Risk Assessment Colorectal, Endometrial, and Gastric Cancer guidelines. Gastric (stomach) cancer risk management options include ⤸ In certain circumstances, gastrectomy is recommended based on findings at biopsy or endoscopy or other persistent unexplained symptoms. Regardless, a …
Permanent link to this article: https://inheritedcancer.net/post100924/
The National Comprehensive Cancer Network (NCCN) released updated Genetic Familial High-Risk Assessment Colorectal, Endometrial, and Gastric Cancer guidelines on October 3rd, 2024. Updates include ⤸ Added the following to testing being considered: Personal history of colorectal or endometrial cancer at or older than age 50, and: Revised information about EPCAM gene (which has usually been …
Permanent link to this article: https://inheritedcancer.net/post100824/
Did you know that men can get breast cancer too? In fact, Beyonce’s father, Matthew Knowles, was diagnosed with breast cancer in October 2019 and was found to have a BRCA2 mutation. Matthew’s children have a 50/50 chance of inheriting his BRCA2 mutation. Men with an inherited BRCA2 mutation are at an increased risk for …
Permanent link to this article: https://inheritedcancer.net/post100724/
By Marleah Dean Kruzel, PhD, BRCA2 Previvor When I was eight years old, my mother found a lump in her breast – 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 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/
Over the last few years, there has been mixed information about the risk of melanoma in BRCA1/2 carriers – 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/
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer – 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 – 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/
Below is a featured video from the September 2024 case conference, during which Ros Eeles, PhD, FRCP, FRCR, FMedSci discusses the genetic predisposition to prostate cancer and its relevance to targeted screening.
Permanent link to this article: https://inheritedcancer.net/video091224/
Below is a featured video from the September 2024 case conference, during which Tuya Pal, MD, FACMG from Vanderbilt University Medical Center presents on recent updated to the National Comprehensive Cancer Network (NCCN) Genetic/Familial Breast, Ovarian, and Pancreatic cancer guidelines.
Permanent link to this article: https://inheritedcancer.net/video0912242/
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 ⤸ 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/
Unlock valuable resources for your health journey! 🌟 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! 🔍 What does this mean? ⭐ 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 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/
Below is a featured video from the March 2024 case conference, during which Tuya Pal, MD, FACMG from Vanderbilt University Medical Center presents on recent updated to the National Comprehensive Cancer Network (NCCN) Genetic/Familial Breast, Ovarian, and Pancreatic cancer guidelines.
Permanent link to this article: https://inheritedcancer.net/video30724_2/
Two new research studies that 𝗶𝗻𝗰𝗹𝘂𝗱𝗲𝗱 𝗜𝗖𝗔𝗥𝗘 𝗽𝗮𝗿𝘁𝗶𝗰𝗶𝗽𝗮𝗻𝘁𝘀 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. 💡 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/
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 🧬 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:✓ Reproductive considerations✓ Non-surgical and surgical risk reduction✓ Salpingectomy✓ Hysterectomy considerations✓ 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/
Below is a featured video from the January 2024 case conference, during which Katie Lang, MS, CGC discusses transplant eligibility in the context of inherited cancer genetic test results.
Permanent link to this article: https://inheritedcancer.net/video11224/
Below is a featured video from the December 2023 case conference, during which Kim Zayhowski, MS, CGC, Sarah Roth, ScM, and Sasha Weiss, MA discuss care for gender diverse individuals with or at risk for inherited cancer predisposition. Please visit our YouTube channel to watch the full December conference, including valuable discussion from genetics professionals!
Permanent link to this article: https://inheritedcancer.net/video121423/
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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 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 ACMG’s 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/
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) › Transgender, Non-Binary, and Gender Diverse Individuals: NEW section on care (Page 63-66, TNBGD-1 to 4)› 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/
Below is a featured video from the September 2023 case conference, during which Tuya Pal, MD, FACMG from Vanderbilt University Medical Center presents on recent updated to the National Comprehensive Cancer Network (NCCN) Genetic/Familial Breast, Ovarian, and Pancreatic cancer guidelines. Please visit our YouTube channel to watch the full September conference, including valuable discussion about …
Permanent link to this article: https://inheritedcancer.net/video91423/
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 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. 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 Black women had the highest rate of breast cancer deaths in their 40s, compared to White women and women of other races and ethnicities. 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/
Permanent link to this article: https://inheritedcancer.net/post62223/
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/
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/
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/
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/
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 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/
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/
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 didn’t 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/
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/
When I was just 8 years old my mother was diagnosed with a very aggressive breast cancer. I didn’t 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. Idrees’ 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/
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/
Check out the full NCCN guidelines by creating a FREE account at www.nccn.org Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic – Released September 7th, 2022› Testing eligibility based on personal history of any type of breast cancer in females was updated from age ≤45 to ≤50 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/
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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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/
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 …
Permanent link to this article: https://inheritedcancer.net/div-classboxedspan-stylecolor-whiteh6newsletter-fall-2021-h6-span-divbrcenterh4span-stylecolor-56b0e4-ipalb2-i-increas/
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/
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.
Permanent link to this article: https://inheritedcancer.net/post120622/
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/
Below you may watch a featured video from the October 2022 Genetics Case Conference in which ICARE Principal Investigator, Tuya Pal, MD, discusses recent updates to the National Comprehensive Cancer Network (NCCN) guidelines.
Permanent link to this article: https://inheritedcancer.net/video100622/
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/
Below you may watch a featured video from the August 2022 Genetics Case Conference focused on total body MRI screening protocol in Li-Fraumeni Syndrome patients with guest expert Joanna Shechtel, MD.
Permanent link to this article: https://inheritedcancer.net/video81122/
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 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/
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/
Below you may watch a featured video from the January 2022 Genetics Case Conference, in which Estie Rose, MS, LCGC presented on JScreen, a non-profit offering genetic testing and education.
Permanent link to this article: https://inheritedcancer.net/video11322/
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 👇 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/
For more information, view the article at 👇https://ascopubs.org/doi/full/10.1200/JCO.21.00531
Permanent link to this article: https://inheritedcancer.net/post82421/
Below you may watch a featured video from the August 2021 ICARE Genetics Case Conferences outlining updates to National Comprehensive Cancer Network (NCCN) guidelines.
Permanent link to this article: https://inheritedcancer.net/video81221_2/
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/
In recognition of 𝗪𝗼𝗺𝗲𝗻’𝘀 𝗛𝗲𝗮𝗹𝘁𝗵 𝗠𝗼𝗻𝘁𝗵, 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/
𝘐𝘯 𝘳𝘦𝘤𝘰𝘨𝘯𝘪𝘵𝘪𝘰𝘯 𝘰𝘧 𝘴𝘬𝘪𝘯 𝘤𝘢𝘯𝘤𝘦𝘳 𝘢𝘸𝘢𝘳𝘦𝘯𝘦𝘴𝘴 𝘮𝘰𝘯𝘵𝘩, we present cancer risks and management for 𝗖𝗗𝗞𝗡𝟮𝗔 per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Version 2.2021 𝗠𝗲𝗻 & 𝗪𝗼𝗺𝗲𝗻: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/
The 𝙍𝙚𝙙𝙪𝙘𝙞𝙣𝙜 𝙃𝙚𝙧𝙚𝙙𝙞𝙩𝙖𝙧𝙮 𝘾𝙖𝙣𝙘𝙚𝙧 𝘼𝙘𝙩 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/
Check out Susan G. Komen’s “𝗞𝗻𝗼𝘄 𝗬𝗼𝘂𝗿 𝗛𝗶𝘀𝘁𝗼𝗿𝘆, 𝗞𝗻𝗼𝘄 𝗬𝗼𝘂𝗿 𝗥𝗶𝘀𝗸” resource, which outlines disparities in breast cancer, how to understand your risk, and recommended screening and management practices. To learn more, please visit: 👉 https://www.komen.org/about-komen/our-impact/breast-cancer/health-equities-initiative/know-your-history/ 👉 https://blog.komen.org/news/black-history-month/
Permanent link to this article: https://inheritedcancer.net/post42021/
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/
𝗚𝗲𝗻𝗲: 𝗔𝗣𝗖 Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 𝗠𝗲𝗻 & 𝗪𝗼𝗺𝗲𝗻:𝘈𝘗𝘊 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/
A study of 159 women, including BRCA1/2 carriers, who had a bilateral mastectomy with reconstruction and underwent breast MRI screening, showed few women had detection of breast cancer through MRI after their bilateral mastectomy. These results support the recommendation that BRCA1/2 carriers with or without breast cancer who have a bilateral mastectomy with reconstruction do …
Permanent link to this article: https://inheritedcancer.net/8nlw2021/
The benefits achieved through genetic testing for inherited cancer only happen by acting upon the results. This can be through guiding cancer treatment, receiving appropriate cancer risk management strategies, and sharing results with at-risk family members so they too can benefit from this information. We recently reported on results of our study, made possible through …
Permanent link to this article: https://inheritedcancer.net/6nlw2021/
Gene: 𝘾𝘿𝙃𝟭 Cancer Risks and Management per NCCN Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021 and Gastric Version 3.2020: 𝗪𝗼𝗺𝗲𝗻: Breast cancer risk: Elevated at 55% – Recommend annual mammogram starting at age 30; consider breast MRI with contrast starting at age 30. 𝗠𝗲𝗻 𝗮𝗻𝗱 𝗪𝗼𝗺𝗲𝗻: Stomach cancer risk: Elevated at 83% for women, and 67% …
Permanent link to this article: https://inheritedcancer.net/post103020/
Gene: 𝙋𝙏𝙀𝙉 Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021: 𝗪𝗼𝗺𝗲𝗻: Breast cancer risk: Elevated at 85% – Recommend annual mammogram starting at age 30-35 (or 5-10 years before the earliest known breast cancer in the family); consider breast MRI with contrast starting at age 30-35; consider …
Permanent link to this article: https://inheritedcancer.net/post102320/
Gene: 𝙏𝙋𝟱𝟯 Syndrome: Li-Fraumeni Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021: 𝗪𝗼𝗺𝗲𝗻: Breast cancer risk: Elevated at 54% – Recommend clinical breast exam every 6-12 months starting at age 20, annual breast MRI with contrast starting at age 20, and annual mammogram starting at age 30; …
Permanent link to this article: https://inheritedcancer.net/post101620/
Gene: 𝘾𝙃𝙀𝙆2 Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Version 1.2020 & Breast/Ovarian/Pancreatic Version 1.2021: 𝗪𝗼𝗺𝗲𝗻: Breast Cancer Risk: Elevated at 28-44% – Recommend annual mammogram starting at age 40 and consider annual breast MRIs with contrast starting at age 40. 𝗠𝗲𝗻 𝗮𝗻𝗱 𝗪𝗼𝗺𝗲𝗻: Colorectal Cancer Risk: Elevated …
Permanent link to this article: https://inheritedcancer.net/post100920/
Permanent link to this article: https://inheritedcancer.net/video100820/
Gene: 𝘼𝙏𝙈 Cancer Risks and Management (per NCCN Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 1.2021) 𝗪𝗼𝗺𝗲𝗻: Breast cancer risk: Elevated at 30% – Recommend annual mammogram starting at age 40 and consider annual breast MRIs starting at age 40. Ovarian cancer risk: Possibly increased, not well established – Manage based on family history. …
Permanent link to this article: https://inheritedcancer.net/post100220/
A study of 159 women, including BRCA carriers, who had bilateral mastectomy with reconstruction, underwent breast MRI screening. The results showed few women had detection of breast cancer through MRI, after their bilateral mastectomy. These results support the recommendation against screening MRI in women who have had bilateral mastectomy with reconstruction due to a diagnosis …
Permanent link to this article: https://inheritedcancer.net/post81820/
Updates to National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Colorectal Guidelines (Version 1.2020, posted July 21, 2020) For individuals with Lynch Syndrome: Cancer risks were updated based on information from recent studies: Main updates included cancer risks in PMS2 (endometrial, ovarian, and prostate cancer), MSH2 and EPCAM (prostate and brain cancer), and MSH6 (prostate …
Permanent link to this article: https://inheritedcancer.net/1nls2020/
Over 600,000 men age 40 and older who were part of a family with at least three consecutive generations affected with prostate cancer were studied from the Utah Population Database. Findings from this study showed that: 36,000 had prostate cancer (5.9%) 2,500 had early-onset disease (7%) 4,000 had lethal disease (11.1%) 15,000 had clinically significant …
Permanent link to this article: https://inheritedcancer.net/post81420/
We are here to help! Our followers asked us to provide information about screening resources for women with hereditary breast cancer. We would like to make folks aware about a CDC program that provides free breast cancer screening for women who are uninsured and underinsured. Check out more information at: https://www.cdc.gov/cancer/nbccedp/
Permanent link to this article: https://inheritedcancer.net/post81120/
Abstract With technological advances, multi-gene panel testing has become increasingly used to identify patients at risk for hereditary breast cancer (HBC). There are currently evidence-based interventions and breast cancer screening strategies that exist for cancer prevention and early detection among patients with HBC. Moreover, in addition to the personal impact of identifying HBC, this information …
Permanent link to this article: https://inheritedcancer.net/pub70820/
Abstract Purpose: Identification of inherited breast cancer may guide cancer risk management. We sought to compare risk management practices across women with inherited breast cancer genes. Methods: Females with a pathogenic/likely pathogenic (P/LP) variant in BRCA1/2, PALB2, CHEK2, and/or ATM were surveyed about cancer risk management. Comparisons were made across genes. Results: The 235 participants with P/LP variants …
Permanent link to this article: https://inheritedcancer.net/pub52220/
The National Comprehensive Cancer Network (NCCN) currently recommends an annual breast MRI and an annual mammography for high-risk women (lifetime breast cancer risk at or above 20%). Among women at high risk for breast cancer, MRI detected breast cancer at an earlier stage than mammograms. Women with BRCA1/2 and TP53 were NOT included in this …
Permanent link to this article: https://inheritedcancer.net/post51520/
A study of 80 women identified 4 proteins in blood that may help to detect ovarian cancer early. Further research is still needed with larger groups of women to determine if this new blood test would be a reliable test to find ovarian cancer early. Check out the full article at https://www.nature.com/articles/s41416-019-0544-0
Permanent link to this article: https://inheritedcancer.net/post50120/
Gene: PALB2 Cancer Risks and Management (per NCCN version 1.2020): Women: Breast cancer risk: Elevated at 53% – Recommend annual breast MRI with contrast starting at age 30, and annual mammogram with consideration of tomosynthesis starting at age 30; Consider risk-reducing mastectomy. Ovarian cancer risk: Elevated at 5% – Manage based on family history. Men …
Permanent link to this article: https://inheritedcancer.net/post42820/
Gene: BRCA2 Cancer Risks and Management (per NCCN version 3.2019): Women: Breast cancer risk: Elevated at 60%-70% – Recommend clinical breast exam every 6-12 months starting at age 25, annual breast MRI with contrast starting at age 25, and annual mammogram with consideration of tomosynthesis starting at age 30; consider risk-reducing mastectomy. Ovarian cancer risk: …
Permanent link to this article: https://inheritedcancer.net/post42120/
Gene: BRCA1 Cancer Risks and Management (per NCCN version 3.2019): Women: Breast cancer risk: Elevated at 60%-70% – Recommend clinical breast exam every 6-12 months starting at age 25, annual breast MRI with contrast starting at age 25, and annual mammogram with consideration of tomosynthesis starting at age 30; consider risk-reducing mastectomy. Ovarian cancer risk: …
Permanent link to this article: https://inheritedcancer.net/post41420/
Gene: EPCAM Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: Elevated at 21%-57% – Consider risk-reducing hysterectomy. Ovarian cancer risk: Elevated at 10%-38% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes). Men and Women: Colorectal cancer risk: Elevated at 43%-52% – Recommend colonoscopy every 1-2 years starting at …
Permanent link to this article: https://inheritedcancer.net/post4120/
Gene: PMS2 Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: Elevated at 0%-15% – Consider risk-reducing hysterectomy. Men and Women: Colorectal cancer risk: Elevated at 12%-20% – Recommend colonoscopy every 1-2 years starting at age 20-25 Gastric cancer risk: Not well established – Consider upper endoscopy every 3-5 years beginning at …
Permanent link to this article: https://inheritedcancer.net/post32420/
Women with ATM and CHEK2 mutations have a lifetime breast cancer risk greater than 20%, which is the threshold at which screening through a breast MRI is recommended. A recently published study based on ICARE participants with ATM and CHEK2 mutations suggested that most female family members of ATM and CHEK2 mutation carriers do not …
Permanent link to this article: https://inheritedcancer.net/post32020/
Gene: MSH6 Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: 17%-46% – Consider risk-reducing hysterectomy. Ovarian cancer risk: 1%-11% – Evidence is insufficient to make specific recommendations. Men and Women: Colorectal cancer risk: 15%-44% – Recommend colonoscopy every 1-2 years starting at age 20-25. Gastric cancer risk: 0%-5% – Consider upper …
Permanent link to this article: https://inheritedcancer.net/post31720/
A Polygenic Risk Score (PRS) is calculated using genetic differences throughout someone’s DNA, in combination with clinical and family history of cancer. This score, alongside environmental and lifestyle risk factors, may help to identify people who might benefit from screening at an earlier age. Important facts about PRS: – It does NOT look for changes …
Permanent link to this article: https://inheritedcancer.net/post31320/
Gene: MSH2 Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: Elevated at 21%-57% – Consider risk-reducing hysterectomy. Ovarian cancer risk: Elevated at 10%-38% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes). Men and Women: Colorectal cancer risk: Elevated at 43%-52% – Recommend colonoscopy every 1-2 years starting at …
Permanent link to this article: https://inheritedcancer.net/post31020/
Gene: MLH1 Cancer Risks and Management (per NCCN version 3.2019): Women: Endometrial cancer risk: Elevated at 43%-57% – Consider risk-reducing hysterectomy. Ovarian cancer risk: Elevated at 5%-20% – Recommend risk-reducing bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes). Breast cancer risk: Elevated at 12%-17% – Manage same as general population. Men and Women: Colorectal cancer …
Permanent link to this article: https://inheritedcancer.net/post3320/
A newly published study of 524 families with pathogenic PALB2 mutations from around the world, including almost 50 ICARE participants, represents the largest, most comprehensive effort to evaluate cancer risks.1 Results showed increased risks for female breast cancer (53%), ovarian cancer (5%), pancreatic cancer (2-3%), and male breast cancer (1%). Findings did not suggest higher …
Permanent link to this article: https://inheritedcancer.net/6nlw2020/
There were significant updates and restructuring of the guidelines, with some highlights included below: Substantial reorganization of the guidelines as follows: Now organized by organ site, rather than primarily by certain high penetrance genes Focused efforts to simplify genetic testing criteria Only one flow diagram included, to outline the ‘genetic testing process’ Following scenarios now …
Permanent link to this article: https://inheritedcancer.net/1nlw2020/
The International Cancer of the Pancreas Screening (CAPS) Consortium recently published updated recommendations about pancreatic cancer screening through MRI/magnetic retrograde cholangiopancreatography (MRCP) and/or an endoscopic ultrasound (EUS).1 Specifically, these guidelines now recommend that individuals with a CDKN2A or STK11 mutation begin screening at age 40. Screening for individuals with a BRCA1/2, ATM, PALB2, MLH1, or …
Permanent link to this article: https://inheritedcancer.net/4nlw2020/
The National Comprehensive Cancer Network (NCCN) and the International Cancer of the Pancreas Screening (CAPS) Consortium recently updated pancreatic cancer screening recommendations. However, there are some differences between these recommendations. Specifically, screening with annual MRI/magnetic retrograde cholangiopancreatography (MRCP) and/or endoscopic ultrasound (EUS) is recommended as follows for NCCN versus CAPS: STK11 regardless of family history: …
Permanent link to this article: https://inheritedcancer.net/post2620/
The International Cancer of the Pancreas Screening (CAPS) Consortium recently published updated pancreatic cancer screening recommendations. The recommendations include: Screening with MRI/magnetic retrograde cholangiopancreaography (MRCP) and/or endoscopic ultrasound (EUS) The screening was recommended for the following individuals: CDKN2A and STK11 mutation carriers starting at age 40 BRCA1/2, ATM, PALB2, MLH1, and MSH2 mutation carriers (if …
Permanent link to this article: https://inheritedcancer.net/post2420/
Abstract Background: With the increasing use of multigene panel tests, pathogenic and likely pathogenic (P/LP) variants are identified more frequently in the moderate-penetrance breast cancer genes ATM and CHEK2. Lifetime breast cancer risk among women with P/LP variants in these genes generally exceeds 20%, meeting the threshold at which high-risk breast cancer screening through breast magnetic …
Permanent link to this article: https://inheritedcancer.net/pub12220/
A new study of Polish BRCA1 carriers showed that screening through transvaginal ultrasound was not effective or reliable in detecting ovarian cancer early. Consequently, preventive oophorectomy remains the only proven method to lower ovarian cancer risks and increase survival. Check out the article at: https://www.ncbi.nlm.nih.gov/pubmed/31500890. Check out the NCCN ovarian cancer screening recommendations for BRCA1 …
Permanent link to this article: https://inheritedcancer.net/post11720/
In a study of 5000 healthy female BRCA1/2 carriers (without a breast cancer diagnosis): BRCA1 carriers: after an average of over 10 years follow-up, survival was higher in those who had bilateral mastectomy (99.7%) compared to those who had breast screening through mammograms and breast MRIs (93%). BRCA2 carriers: no significant differences were seen between …
Permanent link to this article: https://inheritedcancer.net/post11020/
A new published study of 524 families with PALB2 mutations, including our very own ICARE participants, from around the world showed increased risks of female breast, ovarian, pancreatic, and male breast cancer. The level of risk for female breast cancer is enough to recommend cancer risk management. Cancer risk management includes screening or risk-reducing surgery. …
Permanent link to this article: https://inheritedcancer.net/post121619/
Below you may watch a featured video from the December 2019 Genetics Case Conference, which outlined updates to the National Comprehensive Cancer Network (NCCN) guidelines.
Permanent link to this article: https://inheritedcancer.net/video121219/
We are excited to share the latest version of the NCCN Genetic/Familial Breast, Ovarian and Pancreatic Guidelines (V1.2020), which were just updated. Some of the changes made include: PALB2 was added as a high penetrance gene (similar to BRCA1, BRCA2, CDH1, PTEN and TP53) It is appropriate to consider risk reducing mastectomy for cancer risk management …
Permanent link to this article: https://inheritedcancer.net/post12419/
Abstract Background: Women with a BRCA1 or BRCA2 mutation face high risks of breast and ovarian cancer. In the current study, we report on uptake of cancer screening and risk-reduction options in a cohort of BRCA mutation carriers from ten countries over two time periods (1995 to 2008 and 2009 to 2017). Methods: Eligible subjects were identified …
Permanent link to this article: https://inheritedcancer.net/pub41119/
Early detection of pancreatic cancer is tremendously important, given that most patients who develop the disease are diagnosed at a later stage of the disease when it is usually incurable. Although screening through imaging studies has been proposed (i.e., magnetic resonance cholangiopancreatography (MRCP) and/or endoscopic ultrasound),1 data to support this type of screening as an …
Permanent link to this article: https://inheritedcancer.net/12nlw2019/
A recent study reported on a single blood test, named “CancerSEEK”, which can screen for 8 common types of cancer (ovarian, liver, stomach, pancreas, esophagus, colorectal, lung, and breast) and may help to identify the location at which the cancer started. This test evaluated the blood from over 1000 patients with Stage 1 to 3 …
Permanent link to this article: https://inheritedcancer.net/2nlw2018/
Several research groups from around the world that have conducted cancer screening among patients with Li-Fraumeni syndrome and a germline TP53 mutation have recently reported on their observations. Specifically, the National Cancer Institute group demonstrated that screening inclusive of rapid total body MRI detected cancers at an early stage,1 similar to findings published through other …
Permanent link to this article: https://inheritedcancer.net/5nlw2018/
The following question was addressed by Dr. Steven Narod who is a Tier I Canada Research Chair in Breast Cancer and a senior scientist at the Women’s College Research Institute in Toronto, Canada. Dr. Narod is a world-leader in the field of breast and ovarian cancer genetics. Q. In women with a BRCA mutation and …
Permanent link to this article: https://inheritedcancer.net/6nls2017/
Recently, researchers evaluated the benefit of adding a mammogram to MRI for breast cancer screening among ~2000 women with a BRCA1 or BRCA2 mutation. Results indicated that the addition of mammography to MRI did not substantially raise the chance of detecting breast cancer in the overall group. However, one-third of breast cancer cases diagnosed among …
Permanent link to this article: https://inheritedcancer.net/7nls2017/
Among 799 patients with prostate cancer, the rate of BRCA1/2 mutations was much higher among those who passed away of prostate cancer (6.07%) compared to those with low risk disease (1.44%).1 Among the group that died of prostate cancer, those with BRCA1/2 or ATM mutations passed away at an earlier age and had a shorter …
Permanent link to this article: https://inheritedcancer.net/3nlw2017/
Additional guidance pertaining to cancer risk management was provided in the most recent version of the NCCN Guidelines for inherited breast and ovarian cancer. These guidelines now include an expanded table outlining cancer risks and management for each gene, taking into account the age at initiation of each risk management modality as well as footnotes …
Permanent link to this article: https://inheritedcancer.net/1nlw2017/
People with Lynch Syndrome have a non-working Lynch gene (“mutation”), while the other copy of that gene is normal (recognizing that all of these genes come in pairs, with one member of the pair coming from each parent). Over the last few years, there has been an increased realization that some individuals have a mutation …
Permanent link to this article: https://inheritedcancer.net/2nlw2017/
Results from the original screening protocol for LFS1 were recently updated following collection of 11 years of follow-up data.2 Through this study, 89 patients with LFS were given the option of a clinical surveillance protocol consisting of a physical examination as well as frequent biochemical and imaging studies. Forty asymptomatic tumors were detected in 32% …
Permanent link to this article: https://inheritedcancer.net/4nls2016/
A recent article sought to develop an approach to cancer risk management among individuals with mutations in newer inherited cancer genes, many of which result in a moderate (rather than ‘high’) cancer risk. Overall, the investigators suggest a framework that takes the age-specific, lifetime, and absolute cancer risks into account for inherited cancer genes where …
Permanent link to this article: https://inheritedcancer.net/3nls2016/
Although pancreatic cancer is one of the cancer types seen among individuals with mutations in inherited cancer genes (including BRCA2 and BRCA1), the proportion of individuals with pancreatic cancer who have an inherited cause has remained uncertain. To further clarify the role of BRCA1 and BRCA2 (BRCA), over 300 patients with pancreatic cancer were tested …
Permanent link to this article: https://inheritedcancer.net/7nlw2016/
Genetic/Familial High-Risk Assessment: Breast and Ovarian Guidelines For breast cancer screening in BRCA carriers, yearly MRI is recommended starting at age 25; mammograms may be considered in instances where MRI is unavailable or individualized based on earliest age of onset in the family. From age 30-75, annual mammogram and breast MRI is recommended. Above age …
Permanent link to this article: https://inheritedcancer.net/5nlw2015/
Genetic/Familial High-Risk Assessment: Colorectal Guidelines Recommendation that tumors from newly diagnosed colorectal cancer patients be screened for Lynch syndrome (called “Universal Tumor Screening”). A new algorithm was created for Routine Tumor Testing Criteria for Lynch Syndrome Surveillance/Management recommendations were refined by gene for the various Lynch Syndrome genes. Management recommendations were refined for other inherited …
Permanent link to this article: https://inheritedcancer.net/6nlw2015/
Over the last few years, there have been a number of studies to suggest that men with BRCA mutations, particularly BRCA2, have a higher risk of developing aggressive prostate cancer. It remains uncertain whether these men might benefit from screening through the prostate-specific antigen (PSA) test. Within the last few years, PSA screening guidelines in …
Permanent link to this article: https://inheritedcancer.net/1nls2014/
Cowden Syndrome is an inherited condition that leads to higher risks for breast and thyroid cancer, and possibly other cancers.1 There have been a few recent studies that suggest that this condition also puts individuals at a higher risk for kidney cancer. Specifically, Tan et al2 reported a lifetime risk of 30.6% (95% CI: 17.8-49.4) …
Permanent link to this article: https://inheritedcancer.net/3nlw2014/
The following question was addressed by Dr. Laronga who is a breast surgeon based at the Moffitt Cancer Center: Q. What are the risks of breast cancer after ovarian cancer in BRCA carriers? What risk management options are recommended? A. BRCA carriers remain at a higher risk of breast cancer, even after having ovarian cancer; …
Permanent link to this article: https://inheritedcancer.net/4nlw2014/
The following question was addressed by Dr. Pal, who is a Clinical Geneticist based at the Moffitt Cancer Center: Q. Does exposure to radiation increase breast cancer risk in BRCA mutation carriers? A. A number of studies have been conducted to evaluate whether BRCA mutation carriers may be more prone to radiation-induced breast cancer than …
Permanent link to this article: https://inheritedcancer.net/6nls2013/
Genetic testing for inherited cancer predisposition is typically performed by testing for one condition at a time. However, with the tremendous advances in genetic testing technologies over the last few years, the cost of testing has plummeted. To put this into perspective, the first human genome cost 2-3 billion dollars to sequence and took over …
Permanent link to this article: https://inheritedcancer.net/1nls2012/
Over the last few years, there have been several studies that suggest that men with BRCA mutations are at a higher risk for developing and dying from aggressive prostate cancer. It is possible that PSA testing may be of benefit in men with BRCA mutations. However, until the utility of PSA is determined in these …
Permanent link to this article: https://inheritedcancer.net/2nls2012/
