Article
Haplotype analysis of a BRCA1: 185delAG mutation in a Chilean family supports its Ashkenazi origins.
Clinical genetics - 1 Aug 2002
Ah Mew N, Hamel N, Galvez M, Al-Saffar M, Foulkes W D
Abstract excerpt
At least 25% of Ashkenazi Jewish families with two or more cases of premenopausal breast cancers are attributable to one of three founder mutations in BRCA1 or BRCA2. As these three founder mutations are common in the Ashkenazi Jewish population ( approximately 2.5%) and can easily be tested for in a multiplex assay, establishing ethnicity can expedite genetic testing. It is not always possible, however, to...
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