Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer.

ABSTRACT:

Background

Germline mutations in BRCA1 and BRCA2 predispose to breast and ovarian cancer. A multitude of mutations have been described and are found to be scattered throughout these two large genes. We describe analysis of BRCA1 in 25 individuals from 18 families from a Greek cohort.

Methods

The approach used is based on dHPLC mutation screening of the BRCA1 gene, followed by sequencing of fragments suspected to carry a mutation including intron--exon boundaries. In patients with a strong family history but for whom no mutations were detected, analysis was extended to exons 10 and 11 of the BRCA2 gene, followed by MLPA analysis for screening for large genomic rearrangements.

Results

A pathogenic mutation in BRCA1 was identified in 5/18 (27.7 %) families, where four di

SUBMITTER: Belogianni I 

PROVIDER: S-EPMC520816 | biostudies-literature | 2004 Sep

REPOSITORIES: biostudies-literature