As someone with two inherited cancer gene mutations—MSH6 (Lynch syndrome) and CHEK2 — I know firsthand the emotional and practical complexities of navigating hereditary cancer risk. My journey began without what many might consider “classic” red flags — just a few scattered cancer cases in my family, none of which seemed connected at the time. …
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A new study (phase 3 ARIEL4 trial) to evaluate rucaparib (PARP inhibitor) versus standard-of-care chemotherapy among patients with relapsed BRCA-mutated ovarian cancer showed that median overall survival in the rucaparib group was 19.4 months versus 25.4 months in the chemotherapy group. This shows that more research is needed to figure out the most appropriate treatment …
Permanent link to this article: https://inheritedcancer.net/11nls2025/
A new guideline from the American Society of Clinical Oncology (ASCO) was released January 22nd, 2025, updating care for women with advanced-stage ovarian, fallopian tube, or primary peritoneal cancer. Recommendations included that these patients should be evaluated by a gynecologic oncologist before starting treatment to determine if they are candidates for primary cytoreductive surgery (meaning …
Permanent link to this article: https://inheritedcancer.net/10nls2025/
A new international study in over 8000 BRCA1/2 carriers, which included data from ICARE participants, showed risk of pancreatic cancer to age 80 in BRCA1 was 2.2% (95% CI: 1.1%-4.3%) and in BRCA2 was 2.7% (95% CI: 1.3%-5.2%). Of the 34 BRCA1/2 carriers with pancreatic cancer, only 2 had a close (first-degree) relative with pancreatic …
Permanent link to this article: https://inheritedcancer.net/9nls2025/
A recent editorial highlighted three common low-risk CHEK2 mutations (p.I157T, p.S428F, and p.T476M) that lead to a breast cancer risk of <1.4 fold (compared to “typical” CHEK2 mutations where the risk is over 2-fold).1 This is important because the level of risk for these mutations does not warrant high-risk screening. Another study on these three …
Permanent link to this article: https://inheritedcancer.net/8nls2025/
Through linking test results to electronic health records in England from 1995 to 2019, researchers estimated risks of a second primary cancer after breast cancer for BRCA1/2 carriers (Table 1) as well as risks over 10 years (Table 2). This study gives us more generalizable information about cancer risks to help guide risk assessment and …
Permanent link to this article: https://inheritedcancer.net/7nls2025/
MyLynch is a resource for Lynch syndrome patients that provides personal cancer risks, education on interventions, and adjusted risk estimates, depending on the intervention(s) the patient chooses to pursue. If you have Lynch syndrome, go to https://hereditarycancer.dfci.harvard.edu/mylynch/ to get your personalized risk estimate. Check out a recent presentation by Dr. Yurgelun, who helped develop MyLynch, …
Permanent link to this article: https://inheritedcancer.net/6nls2025/
We recently published a study that brings attention to “reduced penetrance” BRCA1 and BRCA2 (BRCA) mutations, which lead to LOWER breast cancer risks than “typical” BRCA mutations.1 Specifically, these mutations lead to a lifetime breast cancer risk of 20-30%, similar to moderate penetrance breast cancer genes such as CHEK2 or ATM. This level of risk …
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A panel of worldwide experts recently published recommendations for people with an ATM mutation, which raises the risk for breast, pancreatic, and prostate cancers. Among women Among men Among both women and men Check out an overview by Drs. Tischkowitz and Pal, who co-led this ATM effort, at: https://youtu.be/T76iGtn8_Do Pal T, et al. Genet Med. …
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We are excited to announce the release of the newly created 2025 NCCN Guidelines for Patients: Genetic Testing for Hereditary Breast, Ovarian, Pancreatic, and Prostate Cancers. These comprehensive guidelines provide valuable insights and information for patients navigating genetic testing. You can view and download a free copy of the guidelines by visiting: www.nccn.org/patients/guidelines/content/PDF/genetics-patient.pdf
Permanent link to this article: https://inheritedcancer.net/3nls2025/
We are also excited to introduce a new initiative to help match BRCA1 and BRCA2 carriers to novel treatment trials for which they may be eligible. If you are interested, please scan the QR code or go to https://redcap.link/ICAREcontactform where you may also provide more details about your history and ask any specific questions you …
Permanent link to this article: https://inheritedcancer.net/2nls2025/
Breast, Ovarian, Pancreatic, and Prostate Cancer Colorectal, Endometrial, and Gastric Cancer
Permanent link to this article: https://inheritedcancer.net/1nls2025/
