High risks for breast cancer associated with mutations in BRCA1, BRCA2, PALB2
WEDNESDAY, May 20, 2020 (HealthDay News) — Multiple genes predispose African-American (AA) women to breast cancer, including BRCA1, BRCA2, and PALB2, according to a study published online May 19 in the Journal of the National Cancer Institute.
Julie R. Palmer, Sc.D., from the Boston University School of Medicine and Slone Epidemiology Center, and colleagues examined associations between mutations in panel-based genes and breast cancer risk in 5,054 AA women with breast cancer and 4,993 unaffected AA women from 10 epidemiologic studies. Germline DNA samples were sequenced for mutations in 23 cancer predisposition genes.
The researchers found that 10.3, 5.2, and 2.3 percent of women with estrogen receptor (ER)-negative breast cancer, women with ER-positive breast cancer, and unaffected women, respectively, had pathogenic mutations. High risks for breast cancer were seen in association with mutations in BRCA1, BRCA2, and PALB2 (odds ratios, 47.55, 7.25, and 8.54, respectively). A high risk for ER-negative disease was seen in association with RAD51D mutations. For ER-positive cancer, moderate risks were seen for CHEK2, ATM, ERCC3, and FANCC mutations, while RECQL mutations were associated with all breast cancer.
“The present results demonstrate, for the first time, the validity and utility of gene-panel testing, beyond BRCA1 and BRCA2, for breast cancer in AA women,” the authors write. “Testing will be particularly valuable for women diagnosed with ER-negative and/or triple-negative breast cancer and their families.”
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