lunes, 1 de julio de 2013

A comparison of the detection of BRCA mutation c... [Br J Cancer. 2013] - PubMed - NCBI

A comparison of the detection of BRCA mutation c... [Br J Cancer. 2013] - PubMed - NCBI

Br J Cancer. 2013 Jun 18. doi: 10.1038/bjc.2013.309. [Epub ahead of print]

A comparison of the detection of BRCA mutation carriers through the provision of Jewish population-based genetic testing compared with clinic-based genetic testing.


1] Lawrence S Bloomberg Faculty of Nursing, University of Toronto, 155 College Street, Toronto, Ontario M5T 1P8, Canada [2] Women's College Research Institute, 790 Bay Street, 7th floor, Toronto, Ontario M5G 1N8, Canada.


Background:Guidelines for genetic testing for BRCA1 or BRCA2 stipulate that a personal or family history of cancer is necessary to be eligible for testing. Approximately 2% of Ashkenazi Jewish women carry a mutation, but to date population-based testing has not been advocated. Little is known about the relative yield of a conventional genetic testing programme versus a programme of widespread testing in a population with common founder mutations.Methods:We provided both referral-based and Jewish population-based testing between 2008 and 2012. We compared the numbers of BRCA mutation carriers identified through the two streams and estimated the number of genetic counselling hours devoted to each programme.Results:From 2008 to 2012, 38 female carriers were identified through 487 referrals to our genetics centre (29 unaffected with cancer). During the same time, 6179 Jewish women were tested through our population-based programme and 93 mutation carriers were identified (92 unaffected with cancer). Fewer counsellor hours were devoted to the population-based than to the clinical referral-based testing programme.Conclusion:Genetic testing of all Jewish women above the age of 25 years will greatly expand the number of BRCA mutation carriers identified without a commensurate increase in the number of hours required for counselling.British Journal of Cancer advance online publication, 18 June 2013; doi:10.1038/bjc.2013.309
[PubMed - as supplied by publisher]

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