Age-dependent penetrance of different germline mutations in the BRCA1 gene.

ABSTRACT:

Aims

BRCA1 gene mutations have been extensively studied in relation to breast and ovarian cancer susceptibility. Various genotype-phenotype correlation attempts have yielded important data pertaining to the consequences of BRCA1 mutations. However, little is known about the effects of recurrent BRCA mutations on expressivity and the age of onset of cancer in a population. This study addresses whether different exon mutations have variable expressivity especially in relation to the age of onset of breast cancer.

Methods

Using a step-wise systematic approach, culminating in the sequencing of all BRCA1 and BRCA2 exons with the addition of multiplex ligation-dependent probe amplification, the relationship between disease phenotypes and gene mutations in 219 individuals and their

SUBMITTER: Al-Mulla F 

PROVIDER: S-EPMC2656651 | biostudies-literature | 2009 Apr

REPOSITORIES: biostudies-literature