Breast Cancer Research and Treatment

, Volume 133, Issue 2, pp 735-740

First online:

Long-term follow-up of Jewish women with a BRCA1 and BRCA2 mutation who underwent population genetic screening

  • Kelly A. MetcalfeAffiliated withLawrence S. Bloomberg Faculty of Nursing, University of TorontoWomen’s College Research Institute
  • , Nida MianAffiliated withWomen’s College Research Institute
  • , Melissa EnmoreAffiliated withWomen’s College Research Institute
  • , Aletta PollAffiliated withWomen’s College Research Institute
  • , Marcia LlacuachaquiAffiliated withWomen’s College Research Institute
  • , Sonia NandaAffiliated withWomen’s College Research Institute
  • , Ping SunAffiliated withWomen’s College Research Institute
  • , Kevin S. HughesAffiliated withMassachusetts General Hospital
  • , Steven A. NarodAffiliated withWomen’s College Research InstituteDalla Lana School of Public Health, University of Toronto Email author 

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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.


BRCA1 BRCA2 Breast cancer Genetic testing Jewish