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Commentary-Current Oncology
It was 2007 when Women’s College Hospital first began to test for BRCA1 and BRCA2 mutations among all Jewish women in Ontario. On a research basis, testing was performed regardless of personal or family history of cancer for three recurrent Jewish founder BRCA mutations1. To date, more than 7000 women have been tested, and the program remains active. Recently, two studies have supported the conclusion that population-based testing is a rational approach to identifying BRCA mutation carriers. In an Israeli study of 8105 unselected Jewish men2 and a British study of 1034 unselected Jewish men and women3, more than one half of the identified mutation carriers failed to qualify for genetic testing based on family history.......
SUMMARY
Given that the prevalence of BRCA1 and BRCA2 mutations in unselected Jewish women is 1%–2%; that most women with a BRCA
mutation identified through population screening would not qualify for
testing based on current testing criteria; that population-based genetic
testing results in the identification of more unaffected BRCA
mutation carriers than does clinical testing (which relies on personal
or family history of cancer) and is less expensive; that women
identified with a BRCA mutation through population screening opt
for intensive breast screening and preventive surgeries; that preventive
oophorectomy and mastectomy reduce cancer deaths dramatically; that
cancer-related distress is transient; and that almost all tested women
are satisfied with testing, we consider genetic testing of the general
population of Jewish women to be justified.
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