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 the link in our bio to learn more! 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:• Colorectal cancer risks were lower in MSH6 and PMS2 carriers• Colonoscopy intervals for these individuals could be longer• 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. …
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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 👇https://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:• Average age was 42• Risk to age 40 was 2.8%• Risk to age 60 was 7.8%• 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:• Cancer treatment plans, such as chemotherapy, drugs, surgery, and radiation• Cancer screening and prevention Sharing genetic test results can also help family members understand their cancer risks.
Permanent link to this article: https://inheritedcancer.net/post22423/
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 the link in our bio to learn more!
Permanent link to this article: https://inheritedcancer.net/post40623/
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/
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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 one’s 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/
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/
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/
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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 – 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/
Looking for a place to get the latest curated information about inherited cancers? Look no further… 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 Hawai’i. 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/
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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. • Some research suggests that BRCA1/2 gene mutations may be more common in young Black women with breast cancer. • 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:• Younger age at first breast cancer• Close family member with breast and/or ovarian cancer• Mutation located near the 3′ region of the gene Risks are lower with:• Endocrine therapy Use the 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!
Permanent link to this article: https://inheritedcancer.net/post10823/
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 the link in our bio for more info! 🔗 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 in our bio to learn more! Reference: Reid et al. …
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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.
Permanent link to this article: https://inheritedcancer.net/post120622/
A newly published study reports that the type of CHEK2 mutation leads to different cancer risks. Read the full article at the link in our bio for more info! 🔗 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 …
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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:• 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 ≤ 45 to ≤ 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 in bio!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.Read the full article to learn more! https://pubmed.ncbi.nlm.nih.gov/34426412/Reference: Kim et al. Cancer Epidemiol Biomarkers Prev. 2021 Nov;30(11):2038-2043. PMID: 34426412.
Permanent link to this article: https://inheritedcancer.net/post100122/
Three recent studies found varying results when evaluating breast cancer risk in BRCA1/2 carriers with risk-reducing salpingo-oophorectomy (RRSO). Use the links in our bio to learn more!
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 the link in our bio for more info! 🔗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 the link in our bio! 🔗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 𝗮𝗹𝗹 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 in our bio for more info! 🔗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 in our bio for more info! …
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 in our bio for more info! 🔗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 in our bio for more info! 🔗Reference: 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:long-term survival was more commontime to subsequent therapy was prolongedRead the full article at the link in our bio for more info! 🔗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 in our bio! 🔗Reference: Dbouk, et al. J Clin Oncol. 2022 Jun 15:JCO2200298. doi: …
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 👇https://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 👇https://pubmed.ncbi.nlm.nih.gov/35396981/Reference: Díaz-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 👇https://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 👇https://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:• triple-negative breast cancer and BRCA1 or BRCA2 mutations• 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 𝗶𝗻𝗶𝘁𝗶𝗮𝗹 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 𝘉𝘳𝘦𝘢𝘴𝘵 𝘊𝘢𝘯𝘤𝘦𝘳 𝘙𝘦𝘴𝘦𝘢𝘳𝘤𝘩 𝘢𝘯𝘥 𝘛𝘳𝘦𝘢𝘵𝘮𝘦𝘯𝘵. 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 👇https://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 👇https://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 𝘑𝘈𝘔𝘈 𝘚𝘶𝘳𝘨𝘦𝘳𝘺 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 👇https://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 𝗰𝗼𝗺𝗺𝘂𝗻𝗶𝘁𝘆 𝘀𝗽𝗼𝘁𝗹𝗶𝗴𝗵𝘁 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 👇https://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 👇https://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/
• 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.R282• 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.R342P• 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 👇 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 👇https://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 𝗹𝗲𝗱 𝗯𝘆 𝗗𝗿𝘀. 𝗦𝗼𝗻𝘆𝗮 𝗥𝗲𝗶𝗱 𝗮𝗻𝗱 𝗧𝘂𝘆𝗮 𝗣𝗮𝗹 𝗼𝗳 𝘁𝗵𝗲 𝗜𝗖𝗔𝗥𝗘 𝘁𝗲𝗮𝗺, published in 𝘉𝘳𝘦𝘢𝘴𝘵 𝘊𝘢𝘯𝘤𝘦𝘳 𝘙𝘦𝘴𝘦𝘢𝘳𝘤𝘩 𝘢𝘯𝘥 𝘛𝘳𝘦𝘢𝘵𝘮𝘦𝘯𝘵, 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 👇https://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 👇https://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 𝘜𝘚𝘈 𝘛𝘰𝘥𝘢𝘺 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 👇https://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 👇 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/…/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 𝘑𝘰𝘶𝘳𝘯𝘢𝘭 𝘰𝘧 𝘊𝘭𝘪𝘯𝘪𝘤𝘢𝘭 𝘖𝘯𝘤𝘰𝘭𝘰𝘨𝘺 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 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/
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 (𝘗𝘈𝘓𝘉2, 𝘔𝘈𝘟, and 𝘛𝘔𝘌𝘔127) 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/
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/
Check out the newly released ACMG Clinical Practice Resource on 𝗣𝗔𝗟𝗕𝟮 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: 👉 https://www.bmj.com/content/372/bmj.n214
Permanent link to this article: https://inheritedcancer.net/post50321/
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/
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 𝗗𝗿. 𝗦𝗼𝗻𝘆𝗮 𝗥𝗲𝗶𝗱 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 “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/
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 𝗰𝗼𝗺𝗺𝘂𝗻𝗶𝘁𝘆 𝘀𝗽𝗼𝘁𝗹𝗶𝗴𝗵𝘁 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/
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/
In honor of 𝗖𝗼𝗹𝗼𝗿𝗲𝗰𝘁𝗮𝗹 𝗖𝗮𝗻𝗰𝗲𝗿 𝗔𝘄𝗮𝗿𝗲𝗻𝗲𝘀𝘀 𝗠𝗼𝗻𝘁𝗵, 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: 》US-based study, visit: https://www.nejm.org/doi/full/10.1056/nejmoa2005936 》International study, visit: https://www.nejm.org/doi/full/10.1056/nejmoa1913948 》Accompanying editorial: https://www.nejm.org/doi/full/10.1056/NEJMe2035083
Permanent link to this article: https://inheritedcancer.net/post30921/
For further information, view the article available at: https://www.gynecologiconcology-online.net/action/showPdf?pii=S0090-8258%2820%2933947-0
Permanent link to this article: https://inheritedcancer.net/post30221/
For additional information visit: https://www.onclive.com/view/adjuvant-olaparib-showcases-idfs-improvement-in-brca-high-risk-early-breast-cancer
Permanent link to this article: https://inheritedcancer.net/post22321/
Permanent link to this article: https://inheritedcancer.net/2nlw2021/
Permanent link to this article: https://inheritedcancer.net/1nlw2021/
It has never been more urgent to ensure that advances in genomic technologies do not further widen existing cancer health disparities. In the fall of 2020, the American Association for Cancer Research (AACR) put forth a report focused on cancer health disparities, in which they highlighted several issues.1 Notably, disparities in inherited cancer care were …
Permanent link to this article: https://inheritedcancer.net/5nlw2021/
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/
My genes don’t define me. I am AliveAndKickn. Pretty bold statement. AliveAndKickn is more than just a name. It’s a way of life. I joke that Lynch Syndrome is the genetic predisposition to colon cancer, endometrial cancer, other cancers…and soccer. But that’s just me. Besides half a dozen surgeries since 1997, I have and still play and coach the game I love. …
Permanent link to this article: https://inheritedcancer.net/spotlightnlw2021/
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/
An old study back in 1999 suggested that CHEK2 may be a Li-Fraumeni Syndrome gene.1 However, a subsequent report in 2002 clearly refuted this original assertion, and based on additional data and analysis concluded that “… it is very unlikely that CHEK2 is an alternative Li-Fraumeni Syndrome susceptibility gene.”2 Another subsequent report in 2008 based …
Permanent link to this article: https://inheritedcancer.net/4nlw2021/
Results of a recently published study suggested that pregnancy after breast cancer in BRCA carriers does not lead to a worse outcome in women or their fetuses.1 This information is reassuring for BRCA carriers who have had a prior diagnosis of breast cancer and are considering having children. In another study among female BRCA carriers …
Permanent link to this article: https://inheritedcancer.net/3nlw2021/
In each newsletter, we give participants the opportunity to have their questions addressed by experts in the field. This question was addressed by Rebecca Smith, PhD, Laboratory Director at Genetics Associates, Inc. with over 20 years of experience in biomedical research and 7 years of experience in clinical laboratory diagnostics. If you have a question …
Permanent link to this article: https://inheritedcancer.net/9nlw2021/
Over the last several months, the American Society of Clinical Oncology published a number of guidelines related to the use of PARP inhibitors among those with BRCA-associated cancers, including guidelines focused on ovarian cancer,1 metastatic pancreatic cancer,2 and breast cancer.3 Additionally, costs of drugs also have great potential to influence policy, highlighting the importance of …
Permanent link to this article: https://inheritedcancer.net/7nlw2021/
The ICARE Winter 2021 Newsletter is now available! Check out this latest edition for recent research and clinical updates, a Q&A with a genomics expert, and an inspiring community spotlight piece. You can read the newsletter by visiting: https://inheritedcancer.net/wp-content/uploads/ICARE-2021-Winter-Newsletter.pdf. Please feel free to share with family members, friends, and/or your healthcare providers.
Permanent link to this article: https://inheritedcancer.net/post20921/
Our team recently published “Sharing Genetic Test Results with Family Members of 𝘉𝘙𝘊𝘈, 𝘗𝘈𝘓𝘉2, 𝘊𝘏𝘌𝘒2, and 𝘈𝘛𝘔 Carriers” in 𝘗𝘢𝘵𝘪𝘦𝘯𝘵 𝘌𝘥𝘶𝘤𝘢𝘵𝘪𝘰𝘯 𝘢𝘯𝘥 𝘊𝘰𝘶𝘯𝘴𝘦𝘭𝘪𝘯𝘨 Special Issue on Genetics. View the article available at:https://www.sciencedirect.com/science/article/pii/S0738399120306832 Challenges and barriers to family sharing included concern for family members’ reactions, complexities of information, lack of closeness, perceived relevance, & emotional impact. …
Permanent link to this article: https://inheritedcancer.net/post20821/
Check out a recent review article led by the ICARE team, published in 𝘌𝘹𝘱𝘦𝘳𝘵 𝘙𝘦𝘷𝘪𝘦𝘸 𝘰𝘧 𝘔𝘰𝘭𝘦𝘤𝘶𝘭𝘢𝘳 𝘋𝘪𝘢𝘨𝘯𝘰𝘴𝘵𝘪𝘤𝘴, outlining strategies to improve the identification of inherited breast cancer gene carriers. Check out the full article at: https://www.tandfonline.com/doi/pdf/10.1080/14737159.2020.1816829?needAccess=true
Permanent link to this article: https://inheritedcancer.net/post20221/
The Male Breast Cancer Global Alliance shares stories from male breast cancer survivors all over the world. To learn more and find resources for affected men and their families, please visit www.mbcglobalalliance.org. The Male Breast Cancer Global Alliance also developed printable and shareable cards in over 20 languages outlining the proper way to do self-breast …
Permanent link to this article: https://inheritedcancer.net/post12621/
Although we don’t typically post on vaccines, given the public health importance of the COVID-19 vaccine and the questions we have received related to whether the vaccine could change one’s DNA, we …
Permanent link to this article: https://inheritedcancer.net/post12221/
Check out a new article by the ICARE team, published in Patient Education and Counseling, evaluating the motivators and barriers to sharing personal genetic test results with family members. The article is 𝗳𝗿𝗲𝗲 to access and download 𝘂𝗻𝘁𝗶𝗹 𝗠𝗮𝗿𝗰𝗵 𝟱𝘁𝗵 at: https://www.sciencedirect.com/science/article/pii/S0738399120306832
Permanent link to this article: https://inheritedcancer.net/post11521/
Check out a study led by the ICARE team, published with @SpringerNature in the Journal of Cancer Education, outlining the evaluation and refinement strategies of an interactive web-based tool developed to provide education about inherited cancer risk. Check out a full-text view-only version of the paper at https://rdcu.be/cc8sR or read the abstract at https://pubmed.ncbi.nlm.nih.gov/33400205/ (PMID: …
Permanent link to this article: https://inheritedcancer.net/post11221/
With the tremendous advances in gene-based care among those at risk for inherited cancer, we are trying to develop and improve tools and strategies to make it easier for more people to benefit from genetic testing. We are excited to share with you a free online toolkit called 𝗚𝗲𝗻𝗲𝗦𝗛𝗔𝗥𝗘, which is aimed at helping patients …
Permanent link to this article: https://inheritedcancer.net/post10821/
For further information, check out the National Cancer Institute’s PDQ® Cancer Genetics Summary available at: https://www.cancer.gov/publications/pdq/information-summaries/genetics
Permanent link to this article: https://inheritedcancer.net/post10521/
Approximately 4,000 women with breast cancer were tested for mutations in nine breast cancer genes – 6.2% had mutations in at least one of the nine genes, and 2.7% had mutations in either 𝘽𝙍𝘾𝘼1 or 𝘽𝙍𝘾𝘼2. Comparisons between women who did versus did not meet National Comprehensive Cancer Network (NCCN) guidelines for testing showed that: …
Permanent link to this article: https://inheritedcancer.net/post122920/
For further information, read the article available at: https://jnccn.org/…/journals/jnccn/18/11/article-p1528.xml
Permanent link to this article: https://inheritedcancer.net/post122220/
For additional details, read the articles at the links below: 𝟭𝟵𝟵𝟵: https://pubmed.ncbi.nlm.nih.gov/10617473/ 𝟮𝟬𝟬𝟮: https://pubmed.ncbi.nlm.nih.gov/12442270/ 𝟮𝟬𝟬𝟴: https://pubmed.ncbi.nlm.nih.gov/18178638/
Permanent link to this article: https://inheritedcancer.net/post121820/
When a 𝘾𝘿𝙃1 mutation is identified, several factors should be considered to figure out what the cancer risks might be and what medical management should be advised. Specifically, differences in cancer risks among those with a 𝘾𝘿𝙃1 mutation are not well understood. Identifying a 𝘾𝘿𝙃1 mutation in families with hereditary diffuse gastric cancer (HDGC) …
Permanent link to this article: https://inheritedcancer.net/post121520/
For further information, view the article at: https://ascopubs.org/doi/abs/10.1200/JCO.20.02151
Permanent link to this article: https://inheritedcancer.net/post121120/
The National Comprehensive Cancer Network (NCCN) released new guidelines on November 20th 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/…/physician_gls/pdf/genetics_bop.pdf
Permanent link to this article: https://inheritedcancer.net/post120820/
The most common inherited form of urothelial cancers is Lynch Syndrome. However, a study showed that of 586 individuals with urothelial cancer, 80 had a mutation in an inherited cancer gene (14%). Mutations in several genes were observed; however, 𝙈𝙎𝙃2 and 𝘽𝙍𝘾𝘼2 were both significantly associated with urothelial cancer (odds ratio of 3.7). Confirmatory …
Permanent link to this article: https://inheritedcancer.net/post120420/
For further information, view the article available at: https://www.sciencedirect.com/…/pii/S0002929720303219
Permanent link to this article: https://inheritedcancer.net/post120120/
For further information, view the article available at: https://www.gynecologiconcology-online.net/…/fulltext
Permanent link to this article: https://inheritedcancer.net/post112720/
Check out the original article by visiting: https://pubmed.ncbi.nlm.nih.gov/32673153/
Permanent link to this article: https://inheritedcancer.net/post112420/
The American Society of Clinical Oncology (ASCO) published updated guidelines for the management of hereditary breast cancer for the following gene carriers: 𝘽𝙍𝘾𝘼1/2 • Consider breast-conserving therapy • Consider nipple-sparing mastectomy, if medically appropriate • Advanced breast cancer: ⫸ PARP inhibitors (olaparib, talazoparib) preferred over non-platinum single agent chemotherapy ⫸ Platinum agents are recommended …
Permanent link to this article: https://inheritedcancer.net/post112020/
For additional details, refer to the article available at: https://ascopubs.org/doi/full/10.1200/JCO.20.01364
Permanent link to this article: https://inheritedcancer.net/post111720/
For further information, view the article available at: https://ascopubs.org/doi/full/10.1200/PO.19.00360
Permanent link to this article: https://inheritedcancer.net/post111320/
The B-GREAT 2020 Newsletter is now available! Check out this latest edition for research updates and information about racial inequalities in healthcare. You can read the newsletter by visiting: https://bgreatinitiative.inheritedcancer.net/wp-content/uploads/BGREAT-Newsletter-2020.pdf. Please feel free to share with family members, friends, and/or your healthcare providers. We will be publishing these newsletters twice a year starting in 2021. …
Permanent link to this article: https://inheritedcancer.net/post111020/
Brooke Thomas has leaned on 12 years of experience as a medical social worker and found ways to stay positive and upbeat through it all – and she has a lot to be positive about these days, thanks to an amazing response to her treatment as part of a clinical trial at Vanderbilt-Ingram Cancer Center. …
Permanent link to this article: https://inheritedcancer.net/post110620/
This study highlights disparities among ovarian cancer patients. For further information, view the article at: https://pubmed.ncbi.nlm.nih.gov/30964716/
Permanent link to this article: https://inheritedcancer.net/post110320/
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/
For further information, view the article available at: https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2767768
Permanent link to this article: https://inheritedcancer.net/post102720/
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/
For more information, view the article available at: https://academic.oup.com/jnci/advance-article/doi/10.1093/jnci/djaa101/5885091
Permanent link to this article: https://inheritedcancer.net/post102020/
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/
New guidelines for the use of PARP inhibitors to treat ovarian cancer among those with BRCA1 or BRCA2 mutations were published through the American Society of Clinical Oncology (ASCO) to guide providers about the role of this class of drugs in the management of this type of cancer. Link to the guidelines are available at: …
Permanent link to this article: https://inheritedcancer.net/post101320/
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/
Among BRCA carriers with metastatic breast cancer, the combination of veliparib AND chemotherapy with platinum-based agents (carboplatin) and taxanes (paclitaxel) led to a longer duration of progression free survival (disease that did not progress), compared to those treated with ONLY chemotherapy. To read the full article visit: https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(20)30447-2/fulltext [This finding was previously outlined last year …
Permanent link to this article: https://inheritedcancer.net/post100620/
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/
SJoin the Colon Cancer Coalition and AliveAndKickn for the Living with Lynch 2020 Virtual Patient Workshop on𝗙𝗿𝗶𝗱𝗮𝘆, 𝗢𝗰𝘁𝗼𝗯𝗲𝗿 𝟵𝘁𝗵 𝗳𝗿𝗼𝗺 𝟭𝗽𝗺-𝟱𝗽𝗺 𝗘𝗧 to hear unique patient perspectives and the latest information from experts on Lynch syndrome. Visit https://www.livingwithlynch.org/2020-living-with-lynch to register for this free workshop today!
Permanent link to this article: https://inheritedcancer.net/post92920/
The American Association for Cancer Research (AACR) published a Cancer Disparities Progress Report. “… our limited knowledge of cancer biology in racial and ethnic minorities, including their inherited cancer predisposition and the genomic underpinnings of cancer initiation and progression, diminishes the potential of precision medicine in these populations.” This report discusses relevant information about inherited …
Permanent link to this article: https://inheritedcancer.net/post92520/
For additional information, please visit: https://www.onclive.com/view/fda-grants-breakthrough-status-to-mk-6482-for-select-vhl-disease-associated-rcc Also check out the abstract presented at the 2020 ASCO meeting: https://meetinglibrary.asco.org/record/185945/abstract
Permanent link to this article: https://inheritedcancer.net/post92220/
For further information, view the article available at: https://ascopubs.org/doi/full/10.1200/JCO.20.01035
Permanent link to this article: https://inheritedcancer.net/post91820/
The ICARE Summer 2020 Newsletter is now available! Check out this latest edition for recent research and clinical updates as well as a Q&A with a nationally renowned clinical geneticist from Vanderbilt-Ingram Cancer Center. You can read the newsletter by visiting: https://inheritedcancer.net/wp-content/uploads/ICARE-2020-Summer-Newsletter.pdf Please feel free to share with family members, friends, and/or your …
Permanent link to this article: https://inheritedcancer.net/post91620/
The National Comprehensive Cancer Network (NCCN) released new guidelines on September 8th, 2020, which included updates to genetic testing criteria by cancer type as follows: Breast Cancer: Broadened to include relatives with ALL grades of prostate cancer (not just high-grade) Now having multiple breast cancer diagnoses is NOT dependent on whether the diagnoses were …
Permanent link to this article: https://inheritedcancer.net/post91520/
The National Comprehensive Cancer Network (NCCN) released new guidelines on September 8th, 2020. 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/post91420/
The National Comprehensive Cancer Network (NCCN) released new guidelines on September 8th, 2020, which included updates to genetic testing choices and considerations as follows: Choice of multi-gene panel may be guided by genes included, analyses offered, and financial assistance programs available for family testing Significant limitations in interpretations of polygenic risk scores: NOT recommended for …
Permanent link to this article: https://inheritedcancer.net/post91120/
The National Comprehensive Cancer Network (NCCN) released new guidelines on September 8th, 2020, which included updates to breast cancer risk management recommendations by gene as follows: NBN – high-risk breast screening was removed as there is insufficient evidence to support high cancer risks BARD1 – added consideration for high-risk breast screening starting at age 40 …
Permanent link to this article: https://inheritedcancer.net/post91020/
Check out Vanderbilt’s article about genetic testing considerations at: https://discover.vumc.org/2020/02/genetic-testing-considerations-for-breast-cancer-patients/ Check out the original document from the American College of Medical Genetics and Genomics at: https://www.nature.com/articles/s41436-019-0712-x
Permanent link to this article: https://inheritedcancer.net/post90820/
The GREM1 gene leads to hereditary mixed polyposis syndrome, characterized by multiple polyps of mixed pathology and high risks for colorectal cancer. A specific duplication in the 5′ regulatory region of the GREM1 gene has been found in a subset of Ashkenazi Jewish individuals with hereditary mixed polyposis syndrome; therefore, GREM1 genetic testing is …
Permanent link to this article: https://inheritedcancer.net/post90420/
BRCA1 is not typically thought to be one of the genes which cause Fanconi anemia. However, rare cases of individuals with biallelic BRCA1 mutations (mutations in both copies of the gene) have been reported. One case involved a woman who had breast cancer at age 23, and was born with multiple birth defects consistent with …
Permanent link to this article: https://inheritedcancer.net/post90120/
Among 4,500 post-menopausal women with breast cancer, 3.55% had a mutation in a gene associated with inherited breast cancer (3-fold higher than what was seen among women who were cancer-free). BRCA1/2 mutations were seen more frequently in women diagnosed with breast cancer at or below age 65 (2.21%) compared to those diagnosed after age 65 …
Permanent link to this article: https://inheritedcancer.net/post82820/
More than 40% of patients with pheochromocytoma or paraganglioma, regardless of age and family history, carry an inherited gene mutation. Given that gene mutation carriers may benefit from gene-specific cancer screening, all individuals diagnosed with one of these tumors should seek genetic counseling to discuss genetic testing options. Genes that predispose to pheochromocytoma and paraganglioma …
Permanent link to this article: https://inheritedcancer.net/post82520/
Individuals with a CDH1 mutation and classic personal and family history of diffuse gastric (stomach) cancer have a very high risk of developing and dying from stomach cancer, if they do not have preventive surgery to remove their stomach. A simulation study to assess prophylactic total gastrectomy (PTG; the removal of the stomach to prevent …
Permanent link to this article: https://inheritedcancer.net/post82120/
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/
There continue to be ongoing advances in treatment studies among those with inherited cancer gene mutations, which are rapidly being followed by FDA approval for specific cancer treatments. Select studies and advances are summarized below: Neurofibromatosis Type 1 (NF1): The FDA granted selumetinib (a MEK inhibitor) breakthrough therapy designation for treatment of inoperable plexiform neurofibromas.
Permanent link to this article: https://inheritedcancer.net/8nls2020/
There continue to be ongoing advances in treatment studies among those with inherited cancer gene mutations, which are rapidly being followed by FDA approval for specific cancer treatments. Select studies and advances are summarized below: Lynch Syndrome: Colorectal Cancer: Among patients with MSI-H or MMR-deficient colorectal cancers (frequently seen among those with Lynch syndrome), pembrolizumab …
Permanent link to this article: https://inheritedcancer.net/7nls2020/
In each newsletter, we give participants the opportunity to have their questions addressed by experts in the field. This question was addressed by Georgia Wiesner, MD, MS, a nationally renowned clinical cancer geneticist, who is an Ingram Professor of Cancer Research, Professor of Medicine in the Division of Genetic Medicine, and the Director of the …
Permanent link to this article: https://inheritedcancer.net/6nls2020/
We have known for a while that many people who have mutations in BRCA1/2 and other inherited cancer risk genes are unaware of their mutation as they have not yet had genetic testing. A recent study among women aged 20 or older living in California and Georgia, which included almost 80,000 breast cancer patients and …
Permanent link to this article: https://inheritedcancer.net/4nls2020/
PTEN is one of the body’s tumor suppressor genes, which controls cell growth. When a PTEN mutation is present, cells may grow uncontrollably, causing tumors to develop that may become cancerous. A patient born with a PTEN mutation is at high risk for developing breast, thyroid, kidney, colon, and endometrial cancer. My PTEN journey began …
Permanent link to this article: https://inheritedcancer.net/spotlightnls2020/
There continue to be ongoing advances in treatment studies among those with inherited cancer gene mutations, which are rapidly being followed by FDA approval for specific cancer treatments. Select studies and advances are summarized below: Von-Hippel Lindau (VHL) Disease: Among patients with VHL-associated clear cell renal cell carcinoma (RCC), a recent study suggested potential benefit …
Permanent link to this article: https://inheritedcancer.net/9nls2020/
There continue to be ongoing advances in treatment studies among those with inherited cancer gene mutations, which are rapidly being followed by FDA approval for specific cancer treatments. Select studies and advances are summarized below: BRCA1/2 Carriers: Breast Cancer: For those with later stage or metastatic breast cancer, the FDA currently has approvals for the use …
Permanent link to this article: https://inheritedcancer.net/2nls2020/
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/
Testing for inherited cancer among breast cancer patients has tremendous potential to guide appropriate care following testing. Yet, a number of efforts suggest that women are not consistently receiving care according to current national guidelines based on their genetic test result. In fact, results from studies suggest many women for whom risk-reducing mastectomy would not …
Permanent link to this article: https://inheritedcancer.net/3nls2020/
A recent study focused on how polygenic risk scores (PRS) may be related to colorectal cancers. Of note, PRS are calculated using genetic differences throughout someone’s DNA, in combination with their clinical and family history of cancer. PRS, alongside environmental and lifestyle risk factors, may help to identify people who may benefit from screening at …
Permanent link to this article: https://inheritedcancer.net/5nls2020/
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/
Check out the article at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2768011
Permanent link to this article: https://inheritedcancer.net/post80720/
A recently published study based on data from our participants showed that few young Black women with breast cancer see a genetic counselor AND those with insurance are LESS likely to see a genetic counselor. For more information, check out the full study at: https://www.nature.com/articles/s41436-020-0762-0
Permanent link to this article: https://inheritedcancer.net/post80420/
A recently published study based on data including our participants identified genes that predispose African American patients to breast cancer. For more information, check out the full study at: https://academic.oup.com/jnci/article/doi/10.1093/jnci/djaa040/5838706.
Permanent link to this article: https://inheritedcancer.net/post80320/
Check out the article at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2767423
Permanent link to this article: https://inheritedcancer.net/post73120/
The National Comprehensive Cancer Network (NCCN) released new guidelines for 2020 on July 21, 2020. The big changes included refining some of the risks for genes involved in Lynch Syndrome, and providing specific guidance about cancer screening that may slightly differ by gene. You can check out the full guidelines by creating a FREE account …
Permanent link to this article: https://inheritedcancer.net/post72420/
[ngg src=”galleries” ids=”1″ display=”basic_slideshow” arrows=”1″ show_thumbnail_link=”0″]It is important to talk about racial inequalities in healthcare as it affects the care received among Black patients. Through our research efforts, we not only want to address the issue of racism but also think about ways to make healthcare more equitable. A recently published study including our research …
Permanent link to this article: https://inheritedcancer.net/post72120/
A study comparing women with two CHEK2 mutations to one CHEK2 mutation showed that those with two mutations were: -more likely to get breast cancer (80.6% versus 41.2%) -more likely to be diagnosed at or below age 50 (61.3% versus 23.9%) -more likely to have a second breast cancer diagnosis (22.6% versus 8.1%) These findings …
Permanent link to this article: https://inheritedcancer.net/post71720/
Individuals with a first-degree relative (for example, parent, sibling, or child) with blood cancer, such as lymphoma, have a higher chance of being diagnosed with blood-related cancer (i.e., hematologic malignancy), according to a recent study. The risk to develop certain blood cancers depends on how closely related the relative is (e.g., higher risks for first-degree …
Permanent link to this article: https://inheritedcancer.net/post71420/
BRCA1/2 and other gene mutation carriers with early stage breast cancer are not always receiving cancer treatment as recommended by national guidelines. Even though more and more people have been tested for hereditary cancer over the years, using this information accurately to guide treatment has not been as successful. These findings highlight the need for …
Permanent link to this article: https://inheritedcancer.net/post71020/
Individuals with a family history of pancreatic cancer have a higher risk to develop pancreatic cancer. A recent study reported the following pancreatic cancer risks compared to the general population, based on relationship to an individual with pancreatic cancer: First-degree relative (e.g., parent, sibling, child) – 1.76 fold higher Second-degree relative (e.g., aunts, uncles, grandparents) …
Permanent link to this article: https://inheritedcancer.net/post70720/
In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our community spotlight in our Winter 2016 ICARE Newsletter is Mari-Lynn Slayton, who was found to have a PALB2 mutation after two breast cancer diagnoses. Check out her story at: https://inheritedcancer.net/community-spotlight/
Permanent link to this article: https://inheritedcancer.net/post70220/
On June 29, 2020, the FDA approved the use of Keytruda (pembrolizumab), as first-line treatment in unresectable or metastatic, microsatellite instability-high (MSI-H) or mismatch repair-deficient (dMMR) colorectal cancer. Among people with Lynch syndrome, the risk for colorectal cancer (which often has microsatellite instability and/or mismatch-repair deficiency) is raised. Keytruda (pembrolizumab) showed to double the progression-free …
Permanent link to this article: https://inheritedcancer.net/post63020/
Asian, Hispanic, and Black women with breast cancer had higher rates of variants of uncertain significance (VUS) on genetic test results for hereditary cancer genes compared to White women with breast cancer according to a recent study. Check out the full article at https://link.springer.com/article/10.1007%2Fs13187-019-01646-8
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June is cancer survivor month! In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our community spotlight in our Winter 2019 ICARE Newsletter is Kelly Frank, who was found to have a BRIP1 mutation after an ovarian cancer diagnosis. Check out her story at: https://inheritedcancer.net/community-spotlight/
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In a study of 914 women with different breast cancer subtypes, overall pathologic complete response rates were: Higher in those with BRCA1/2 mutations (60.4% versus 46.7%) No differences were seen in those with mutations in other inherited cancer genes Among patients with triple-negative breast cancer, BRCA1/2 mutations had highest response rates to treatment in both …
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In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our community spotlight in our Summer 2018 ICARE Newsletter is Patricia Blumenthal, who was found to have a BRCA2 mutation. Check out her story at: https://inheritedcancer.net/community-spotlight/
Permanent link to this article: https://inheritedcancer.net/post61620/
Through a randomized phase 2 study (called the INFORM trial) among BRCA1/2 carriers with breast cancer, cisplatin was no better in inducing pathologic complete remission compared to AC. The pathologic complete remission rate was 18% for cisplatin and 26% for AC. Cisplatin is not better than other chemotherapy for induction therapy for breast cancers in …
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In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our latest community spotlight in our Winter 2017 ICARE Newsletter is Christy Mattey, who was found to have a CHEK2 mutation after a breast cancer diagnosis. Check out her story at: https://inheritedcancer.net/community-spotlight/
Permanent link to this article: https://inheritedcancer.net/post60920/
In BRCA1/2 or PALB2 carriers with stage 3 or 4 pancreatic cancer, the combination of cisplatin + gemtricitabine with veliparib (a PARP inhibitor), did NOT seem to provide additional benefit over cisplatin + gemtricitabine alone. Through this phase 2 randomized control trial, response rates in both treatment arms were high with similar overall survival rates. …
Permanent link to this article: https://inheritedcancer.net/post60520/
June is Cancer Survivor Month! In every ICARE Newsletter we feature an ICARE participant as a community spotlight. Our latest community spotlight in our Summer 2017 ICARE Newsletter is Terry Arnold, who was found to have a BRCA1 mutation after a breast cancer diagnosis. Check out her story at: https://inheritedcancer.net/community-spotlight/
Permanent link to this article: https://inheritedcancer.net/post60220/
A recent study found that patients with metastatic pancreatic cancer who had mutations in the DNA repair genes (either inherited or just in the tumor) had better clinical outcomes after platinum-based chemotherapy compared to patients without these mutations. Check out the link to full article: https://clincancerres.aacrjournals.org/content/early/2020/05/20/1078-0432.CCR-20-0418
Permanent link to this article: https://inheritedcancer.net/post52920/
A new article was recently published based on data from BRCA1/2, PALB2, CHEK2, and ATM carriers in ICARE. Findings suggest potential overtreatment through risk-reducing surgery among women with pathogenic/likely pathogenic variants in breast cancer genes. This highlights the importance of promoting guideline-adherent, risk-appropriate care. Check out the full article at https://rdcu.be/b4mbg
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On May 19, 2020 the FDA approved the use of olaparib (Lynparza) as treatment in BRCA and other gene carriers (homologous recombination repair genes) with metastatic castration-resistant prostate cancer who have been treated with enzalutamide or abiraterone. Link to full article: https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer
Permanent link to this article: https://inheritedcancer.net/post52220/
On May 15, 2020 the FDA approved the use of rucaparib (Rubraca) as treatment in BRCA carriers with metastatic castration-resistant prostate cancer who have been treated with androgen receptor-directed therapy and a taxane-based chemotherapy. Link to full article: https://www.fda.gov/drugs/fda-grants-accelerated-approval-rucaparib-brca-mutated-metastatic-castration-resistant-prostate
Permanent link to this article: https://inheritedcancer.net/post51920/
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 …
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On May 8, 2020 the FDA approved the use of olaparib (Lynparza) as first-line maintenance treatment in BRCA1/2 carriers (deleterious or suspected deleterious mutations) and/or a genomic instability, with advanced epithelial ovarian, fallopian tube or primary peritoneal cancer who are in complete or partial response to first-line platinum-based chemotherapy. Link to full article: https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-olaparib-plus-bevacizumab-maintenance-treatment-ovarian-fallopian-tube-or-primary
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In recognition of World Ovarian Cancer Day, we’d like to share some exciting results from a study of women with ovarian cancer and a BRCA mutation: In a recent phase III trial, olaparib (PARP inhibitor) showed improved response and progression-free survival compared with chemotherapy (without platinum) in BRCA carriers with platinum-sensitive relapsed ovarian cancer who …
Permanent link to this article: https://inheritedcancer.net/post50820/
Findings from a recent study showed that olaparib (PARP inhibitor) significantly improved progression-free survival in patients with BRCA1, BRCA2, or ATM genetic alterations. Benefits were also more broadly seen among patients with homologous recombination repair gene defects. Link to full article: https://www.nejm.org/doi/full/10.1056/NEJMoa1911440 Check out the ASCO post article at: https://www.ascopost.com/news/may-2020/olaparib-for-patients-with-mcrpc-and-homologous-recombination-repair-gene-alterations/
Permanent link to this article: https://inheritedcancer.net/post50620/
CDH1 mutation carriers are at higher risk for diffuse gastric cancer (men and women) and lobular breast cancer (women). Current strategies to manage high risks of gastric cancer include prophylactic gastrectomy (i.e., removal of the stomach), which can have severe physical and psychological implications. A recent study found that men have a higher risk of …
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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
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On April 29, 2020 the FDA approved the use of niraparib (Zeluja) as first-line maintenance treatment in BRCA1/2 carriers with advanced ovarian cancer! More details available at: https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-niraparib-first-line-maintenance-advanced-ovarian-cancer
Permanent link to this article: https://inheritedcancer.net/post42920/
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/
The American Society of Clinical Oncology (ASCO) recently published a guideline reinforcing the longstanding recommendation that all women diagnosed with epithelial ovarian cancer (EOC) be offered genetic testing for hereditary ovarian cancer genes. Many of these women (>15%) have an inherited mutation, most commonly BRCA1 or BRCA2. Identifying BRCA1/2 mutations may help guide cancer treatment. …
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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/
Results from a population-based study of over 20,000 women from SEER registries of Georgia and California diagnosed with stage 0 to stage III breast cancer between 2014 and 2016 tested for inherited breast cancer were recently published. Findings suggest that women who test positive for certain mutations receive certain patterns of treatment. These patterns of …
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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/
Treatment-associated polyposis (TAP) should be considered in patients who develop many colon polyps after treatment for a childhood or young adulthood cancer but do not have an identified mutation in a hereditary cancer gene. A recent study reported that 35% of patients with TAP developed over 50 colorectal polyps, and 94% had multiple types of …
Permanent link to this article: https://inheritedcancer.net/post32720/
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/
New colon cancer and polyposis genes recently identified include NTHL1, POLE, POLD1, MSH3, and RNF43. Previous studies suggest these genes raise the risk for colon cancer and polyposis; however, recent data suggest that environmental factors may also play an important role in risk. Ultimately, these genes account for a very small fraction of polyposis cases. …
Permanent link to this article: https://inheritedcancer.net/post3620/
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 …
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The FDA has granted a breakthrough therapy designation to selumetinib, a MEK inhibitor, for treatment of inoperable plexiform neurofibromas. These types of neurofibromas are almost exclusively seen in individuals with neurofibromatosis type 1 (NF1). These plexiform neurofibromas are benign tumors on the nerve sheaths and can develop anywhere in the body. These tumors typically cause …
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There are different types of genetic/DNA tests offered to patients with cancer: 1) Tumor tests, mainly done to guide cancer treatment. 2) Blood or saliva tests (on normal DNA that individual was born with) to identify inherited cancer predisposition, which may also guide cancer treatment in some instances. Genetic testing of the tumor detects mutations …
Permanent link to this article: https://inheritedcancer.net/post22620/
I was diagnosed with breast cancer in December 2018 and was found to be PALB2+. The PALB2 gene had not been tested for when my older sister was diagnosed with breast cancer and had genetic testing done four years earlier. This was new! My cancer was very similar to my sister’s, but being PALB2+ changed …
Permanent link to this article: https://inheritedcancer.net/spotlightnlw2020/
A recent study reported a high complete response rate among men with a BRCA1/2 mutation with metastatic, castration-resistant prostate cancer who were treated with niraparib (a PARP inhibitor) of 63% compared to 17% in the non-BRCA1/2 group.1 Based on this data, the Federal Drug Administration (FDA) granted breakthrough therapy designation to niraparib on October 3, …
Permanent link to this article: https://inheritedcancer.net/3nlw2020/
We are excited to tell you about our recently published results based solely on data from ICARE participants with ATM and CHEK2 mutations. Our findings suggest most female family members of ATM and CHEK2 mutation carriers do not qualify for breast MRI screening based on family cancer history alone. This emphasizes the need to share …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-winter-2020new-study-based-on-icare-participants-with-atm-chek2-mutations/
