Epigenetic silencing and deletion of the BRCA1 gene in sporadic breast cancer.

ABSTRACT:

Introduction

BRCA1 or BRCA2 germline mutations increase the risk of developing breast cancer. Tumour cells from germline mutation carriers have frequently lost the wild-type allele. This is predicted to result in genomic instability where cell survival depends upon dysfunctional checkpoint mechanisms. Tumorigenic potential could then be acquired through further genomic alterations. Surprisingly, somatic BRCA mutations are not found in sporadic breast tumours. BRCA1 methylation has been shown to occur in sporadic breast tumours and to be associated with reduced gene expression. We examined the frequency of BRCA1 methylation in 143 primary sporadic breast tumours along with BRCA1 copy number alterations and tumour phenotype.

Methods

Primary sporadic breast tumours were analyse

SUBMITTER: Birgisdottir V 

PROVIDER: S-EPMC1779478 | biostudies-literature | 2006

REPOSITORIES: biostudies-literature