Inherited Mutations Common in Triple-Negative Breast Cancer

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Inherited Mutations Common in Triple-Negative Breast Cancer
Inherited Mutations Common in Triple-Negative Breast Cancer

TUESDAY, Dec. 9, 2014 (HealthDay News) -- Almost 15 percent of patients with triple-negative breast cancer unselected for family history have deleterious mutations in breast cancer susceptibility genes, according to a study published online Dec. 1 in the Journal of Clinical Oncology.

Fergus J. Couch, Ph.D., from the Mayo Clinic in Rochester, Minn., and colleagues recruited 1,824 patients with triple-negative breast cancer, unselected for family history of breast or ovarian cancer, through 12 studies. Germline DNA was sequenced to identify mutations in 17 predisposition genes, including BRCA1 and BRCA2.

The researchers found that 14.6 percent of all patients had deleterious mutations. Of these, 11.2 percent had mutations in BRCA1 and BRCA2 (8.5 and 2.7 percent, respectively). In 3.7 percent of patients, they detected deleterious mutations in 15 other predisposition genes, mostly in genes involved in homologous recombination, including PALB2, BARD1, RAD51D, RAD51C, and BRIP1. Compared with those without mutations, patients with mutations were diagnosed at an earlier age and had higher-grade tumors.

"Mutation prevalence estimates suggest that patients with triple-negative breast cancer, regardless of age at diagnosis or family history of cancer, should be considered for germline genetic testing of BRCA1 and BRCA2," the authors write.

Several authors disclosed financial ties to the pharmaceutical industry.

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