Article
Characterization of the pathogenic mechanism of a novel BRCA2 variant in a Chinese family.
Familial cancer - 1 Jan 2008
Kwong Ava, Wong L P, Chan K Y K, Ma E S K, Khoo U S, Ford J M
Abstract excerpt
INTRODUCTION: Germline mutations of BRCA1 and BRCA2 account for the majority of hereditary breast cancers, many of which are classified as variants of unknown significance (VUS). We report the identification of a novel BRCA2 variant (c.7806-9T > G) in a Chinese family with multiple breast cancers and document it as a pathogenic mutation. METHODS: The proband in this family was diagnosed with breast cancer at age...
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