Mutations seen in BRCA1/2, DNA mismatch repair genes, other suspected/established risk genes
WEDNESDAY, Jan. 6, 2016 (HealthDay News) — Pathogenic germline mutations are common in women with ovarian, fallopian tube, and peritoneal carcinoma (OC), according to a study published online Dec. 30 in JAMA Oncology.
Barbara M. Norquist, M.D., from the University of Washington in Seattle, and colleagues examined the frequency and importance of germline mutations in cancer-associated genes in OC. Data were included for 1,915 women with OC and available germline DNA identified from the University of Washington (UW) gynecologic tissue bank and from the Gynecologic Oncology Group (GOG) phase III clinical trials 218 and 262.
The researchers found that in patients recruited from UW there was a higher proportion of fallopian tube cancers, stage I and II disease, and nonserous carcinomas; a higher number of black women were recruited from the GOG trials. Fifteen percent of patients had mutations in BRCA1 or BRCA2, and 0.4 percent had mutations in DNA mismatch repair genes. Mutations in BRIP1, RAD51C, RAD51D, PALB2, and BARD1 were present in 3.3 percent of patients with OC, significantly more common than in the National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Aggregation Consortium. Mutation frequency was not predicted by race, histologic subtype, or disease site. Compared to those without mutations, patients with a BRCA2 mutation from the GOG trials had longer progression-free and overall survival.
“Of 1,915 patients with OC, 347 (18 percent) carried pathogenic germline mutations in genes associated with OC risk,” the authors write.
Two authors disclosed financial ties to the biopharmaceutical industry.
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