Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer.

ABSTRACT:

Introduction

Unclassified variants (UVs) of unknown clinical significance are frequently detected in the BRCA2 gene. In this study, we have investigated the potential pathogenic relevance of the recurrent UV S384F (BRCA2, exon 10).

Methods

For co-segregation, four women from a large kindred (BN326) suffering from breast cancer were analysed. Moreover, paraffin-embedded tumours from two patients were analysed for loss of heterozygosity. Co-occurrence of the variant with a deleterious mutation was further determined in a large data set of 43,029 index cases. Nature and position of the UV and conservation among species were evaluated.

Results

We identified the unclassified variant S384F in three of the four breast cancer patients (the three were diagnosed at 41, 43 and 5

SUBMITTER: Wappenschmidt B 

PROVIDER: S-EPMC1242149 | biostudies-literature | 2005

REPOSITORIES: biostudies-literature