BRCA testing uptake and participation in ovarian cancer prevention in women at risk for an inherited ovarian cancer susceptibility

Abstract

The aim of this study was to assess BRCA testing uptake in women with a family history suggestive of an inherited ovarian cancer risk, and to evaluate their participation in preventive measures including bilateral salpingo-oophorectomy (BSO), screening with transvaginal ultrasound (TVUS) and serum CA125, and chemoprevention with oral contraceptives (OCPs). From January 1998 through June 1999, 112 women received genetic risk assessment and counseling regarding a possible inherited susceptibility to ovarian and related cancers. 62% were Jewish and 42% had a history of breast cancer. Of these 112 women, 72% elected to participate in BRCA testing; deleterious mutations were identified in 22% (18/81). Jewish patients represented 79% of the subjects who chose to undergo testing, and included 93% (64/69) of all Jewish patients. Only 40% (17/43) of non-Jewish patients chose testing. Almost all (89%) of the 18 deleterious mutations identified were in Jewish patients; 25% (16/64) of Jews who were tested had deleterious mutations compared to only 12% (2/17) of non-Jews. Jewish patients were more likely than non-Jews to have a personal history of breast cancer, 52% (33/69) compared to 26% (11/43), p<0.03. Follow-up regarding participation in preventive services was available for 18 of 22 women seen in the past 3 years who had both intact ovaries and deleterious BRCA mutations. 10 of the 18 women underwent BSO, and 7 are participating in TVUS and CA125 and/or are taking OCPs for ovarian cancer prevention. Only 3 women had been participating in ovarian cancer screening prior to their genetic consultation, and none were taking OCPs for chemoprevention. Age and personal history of breast cancer did not distinguish between those who did and did not elect BSO. 9 of the 13 Jewish women (69%) with a BRCA mutation had BSO, as did 1 of 2 non-Jewish women. These preliminary data suggest that women with BRCA mutations participate in appropriate preventive strategies for ovarian cancer; most choosing prophylactic BSO. Jewish patients were more likely to undergo BRCA testing than non-Jewish patients; this might be due to the increased mutation detection rate and reduced cost of testing. Thus at this time, genetic risk assessment and testing appears to be most beneficial for Jewish women at risk for an inherited susceptibility to ovarian cancer.