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Blogger's Note: in this study longterm followup = 2 years
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.
Keywords BRCA1 – BRCA2 – Breast cancer – Genetic testing – Jewish
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