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. 1997 Dec 23;121(2):115-8.
doi: 10.1016/s0304-3835(97)00243-7.

Mutation Analysis of the BRCA2 Gene in Breast/Ovarian Cancer Spanish Families: Identification of Two New Mutations

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Mutation Analysis of the BRCA2 Gene in Breast/Ovarian Cancer Spanish Families: Identification of Two New Mutations

A Osorio et al. Cancer Lett. .

Abstract

The recently isolated gene BRCA2 is responsible for about 45% of familial breast cancer and the majority of male breast cancer families. We have screened 12 high risk breast/ovarian Spanish families for mutations in BRCA2, using SSCP followed by direct sequencing. We have found mutations in four of our 12 families (33.3%), including two with male breast cancer. Three of the mutations were frameshift and one was a missense. Two of the mutations have been previously published and two are new mutations.

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