Genes That Best Predict Breast Cancer Risk Identified
FRIDAY, Feb. 5, 2021 -- Certain genes and pathogenic variants of some of these genes confer predisposition to breast cancer, according to two studies published in the Feb. 4 issue of the New England Journal of Medicine.
Leila Dorling, Ph.D., from the University of Cambridge in the United Kingdom, and colleagues used a panel of 34 putative susceptibility genes to perform sequencing on samples from 60,466 women with breast cancer and 53,641 controls. The researchers found that protein-truncating variants in five genes were associated with a risk for breast cancer overall, with a P value < 0.0001 (ATM, BRCA1, BRCA2, CHEK2, and PALB2). Protein-truncating variants in four genes were associated with breast cancer risk overall, with a P value < 0.05 (BARD1, RAD51C, RAD51D, and TP53). Missense variants that would be classified as pathogenic according to standard criteria for BRCA1, BRCA2, and TP53 were associated with a risk for breast cancer overall.
Chunling Hu, M.D., Ph.D., from the Mayo Clinic in Rochester, Minnesota, and colleagues performed sequencing to identify germline pathogenic variants in 28 cancer-predisposition genes among 32,247 women with breast cancer and 32,544 unaffected women (controls). The researchers identified pathogenic variants in 12 established breast cancer-predisposition genes in 5.03 and 1.63 percent of cases and controls, respectively. Pathogenic variants in BRCA1 and BRCA2 were associated with elevated breast cancer risk, with odds ratios of 7.62 and 5.23, respectively. Moderately increased risk was seen for pathogenic variants in PALB2 (odds ratio, 3.83).
These studies "are useful in that they help to establish the genes that confer predisposition to breast cancer and those that do not," writes the author of an accompanying editorial. "These studies are less helpful in refining the lifetime cancer risks for women with mutations."
Several authors from both studies disclosed financial ties to the biopharmaceutical industry.
© 2021 HealthDay. All rights reserved.
Posted: February 2021
Read this next
FRIDAY, March 5, 2021 -- Cancer survivors have poorer ambulatory function, which is associated with increased mortality, according to a study published online March 4 in Cancer...
TUESDAY, March 2, 2021 -- Women who attend two scheduled mammography screenings before a breast cancer diagnosis have a reduced risk for breast cancer death, according to a study...
MONDAY, March 1, 2021 -- In two reports published recently in the American Journal of Roentgenology, radiologists address the clinical features of axillary adenopathy seen on...
More News Resources
- FDA Medwatch Drug Alerts
- Daily MedNews
- News for Health Professionals
- New Drug Approvals
- New Drug Applications
- Drug Shortages
- Clinical Trial Results
- Generic Drug Approvals
Subscribe to our Newsletter
Whatever your topic of interest, subscribe to our newsletters to get the best of Drugs.com in your inbox.