The following question was addressed by Gillian Hooker, PhD, ScM, LCGC, who is the president-elect for the National Society of Genetic Counselors, Adjunct Associate Professor in the Division of Genetic Medicine at the Vanderbilt University Medical Center, and the Vice President of Clinical Development for Concert Genetics in Nashville, TN. Q. Why was the BRCA1/2 …
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(Version 1.2019, posted July 3, 2019) For Individuals with Lynch Syndrome: The cancer risk table was updated: Addition of new cancer risks by specific genes: breast and bladder cancers Updates of cancer risks by specific genes: ovarian, prostate, gastric, pancreatic, urothelial, small bowel, and brain/CNS cancers Removal of reference to sebaceous neoplasms Recommendations for cancer …
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A recently reported study of women with ovarian cancer and homologous recombination deficiency (HRD) who received a PARP inhibitor (niraparib) as fourth line or later treatment showed potential clinical benefit. Specifically, median overall survival after treatment was 19 months in the HRD-positive group (including those with BRCA1/2 mutations) compared to 15.5 months in the HRD-negative …
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Looking at pregnancy history and breast cancer risk, a recent study of almost 8,000 women with BRCA1/2 mutations evaluated breast cancer risks related to pregnancy.1 Findings suggested the overall number of pregnancies was not associated with breast cancer risk in BRCA1 carriers; however, BRCA1 carriers with one pregnancy were at higher risk for breast cancer …
Permanent link to this article: https://inheritedcancer.net/6nls2019/
Life was great at 45. I had nothing more than a few headaches and was a tad overweight. After a friend was diagnosed with breast cancer, I realized I had not had a mammogram in a couple of years, so I scheduled an appointment. One mass was found, but it was benign and nothing to …
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Results from a clinical trial of individuals with a BRCA1/2 mutation and pancreatic cancer showed that patients who received a PARP inhibitor (olaparib) for maintenance treatment had almost half the risk of their disease progressing when compared to receiving a placebo.1 In fact, after 2 years, 22.1% of patients who received olaparib had no disease …
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In a study of inherited mutations in the CHEK2 gene, findings suggest there were two specific mutations that could predispose men to testicular germ cell tumors (TGCT). Specifically, 205 men with these tumors were tested for 48 DNA repair genes, and findings were then tested in other patient populations. These findings suggest that CHEK2 mutations …
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In a study of over 100 individuals with a DICER1 mutation, findings suggest that 5.3% of individuals had developed cancer by age 10, and 19.3% by age 50. After age 10, cancer risks for women were higher compared to men. Specific cancers for which risks were high included gynecologic and thyroid cancers. These findings are …
Permanent link to this article: https://inheritedcancer.net/8nls2019/
There is now information to suggest that identifying inherited mutations in DNA repair genes, such as BRCA1/2 and other genes, in men with metastatic prostate cancer may open doors for other treatment options. Results of a phase 2 clinical trial among men with metastatic and heavily pre-treated prostate cancer were presented at the American Society …
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The U.S. Preventive Services Task Force (USPSTF) came out with new genetic testing guidelines for the BRCA1/2 genes, which has garnered substantial media attention. This task force consists of a team of primary care and preventive medicine healthcare experts to lower the chance of a conflict of interest (which is also the reason that subspecialty …
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Since expanded genetic testing has become available through multigene panel tests, studies have suggested that many people identified to have TP53 mutations do not have a typical personal or family history, which is usually seen with Li-Fraumeni syndrome (LFS). A recent study looking at over 300 individuals with TP53 mutations (identified through multi-gene panel testing) …
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Through a study of over 13,000 patients with serous ovarian cancers and almost 41,000 controls, 34 genes that raise the risk for ovarian cancer were identified. Additional laboratory studies were conducted to further characterize some of these genes, suggesting that three of these new genes may be essential (HAUS6, KANLS1, and PRC1). This study has …
Permanent link to this article: https://inheritedcancer.net/9nls2019/
