A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.

ABSTRACT:

Background

In recent years, numerous studies have assessed the prevalence of germline mutations in BRCA1 and BRCA2 genes in various cohorts. We here extensively investigated the prevalence and geographical distribution of BRCA1-2 mutations in the entire genetically-homogeneous Sardinian population. The occurrence of phenotypic characteristics which may be predictive for the presence of BRCA1-2 germline mutations was also evaluated.

Methods

Three hundred and forty-eight breast cancer patients presenting a familial recurrence of invasive breast or ovarian carcinoma with at least two affected family members were screened for BRCA1-2 mutations by DHPLC analysis and DNA sequencing. Association of BRCA1 and BRCA2 mutational status with clinical and pathological parameters was eval

SUBMITTER: Palomba G 

PROVIDER: S-EPMC2724545 | biostudies-literature | 2009 Jul

REPOSITORIES: biostudies-literature