title: Long-term follow-up of Jewish women with a BRCA1 and BRCA2 mutation who underwent population genetic screening.
abstract: There are two mutations in BRCA1 and one in BRCA2, which are present in up to 2.5% of Jewish women. Population genetic testing for Jewish women has been proposed; however, it is unclear how this would impact the uptake of cancer prevention options and psychosocial functioning in women with a positive result. Two thousand and eighty unselected Jewish women were tested for the Jewish BRCA mutations, and 1.1% were positive. Cancer-related distress was measured before testing, and at 1 and 2 years post-testing. Information on uptake of cancer risk reduction options was collected at 2 years. Breast and ovarian cancer risks were estimated using BRCAPRO. Within 2 years of receiving a positive result, 11.1% of women had prophylactic mastectomy, and 89.5% had a prophylactic oophorectomy. The mean breast cancer risk was estimated to be 37.2% at time of testing, compared to 20.9% at 2 years post-testing. The mean ovarian cancer risk was estimated to be 24.5% at time of testing, compared to 7.5% at 2 years following testing. Distress decreased between 1 and 2 years for women with prophylactic mastectomy and oophorectomy (P = 0.02), and for women with prophylactic oophorectomy only (P = 0.04) but not for those with neither surgery. The majority of Jewish women with a BRCA mutation identified through a population screening elected prophylactic oophorectomy, but a few had a prophylactic mastectomy. Uptake of either surgery resulted in decreased distress. Provision of population BRCA testing resulted in reduced risks of breast and ovarian cancers in women with a mutation.
authors.affiliation: Lawrence S. Bloomberg Faculty of Nursing, University of Toronto, Toronto, ON, Canada.
authors.forename: Kelly A
authors.initials: KA
authors.lastname: Metcalfe
authors.forename: Nida
authors.initials: N
authors.lastname: Mian
authors.forename: Melissa
authors.initials: M
authors.lastname: Enmore
authors.forename: Aletta
authors.initials: A
authors.lastname: Poll
authors.forename: Marcia
authors.initials: M
authors.lastname: Llacuachaqui
authors.forename: Sonia
authors.initials: S
authors.lastname: Nanda
authors.forename: Ping
authors.initials: P
authors.lastname: Sun
authors.forename: Kevin S
authors.initials: KS
authors.lastname: Hughes
authors.forename: Steven A
authors.initials: SA
authors.lastname: Narod
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005820:Genetic Testing; D006801:Humans; D007585:Jews / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics; D013315:Stress, Psychological; D011795:Surveys and Questionnaires