Classification of BRCA1 missense variants of unknown clinical significance.

ABSTRACT:

Background

BRCA1 is a tumour suppressor with pleiotropic actions. Germline mutations in BRCA1 are responsible for a large proportion of breast-ovarian cancer families. Several missense variants have been identified throughout the gene but because of lack of information about their impact on the function of BRCA1, predictive testing is not always informative. Classification of missense variants into deleterious/high risk or neutral/low clinical significance is essential to identify individuals at risk.

Objective

To investigate a panel of missense variants.

Methods and results

The panel was investigated in a comprehensive framework that included (1) a functional assay based on transcription activation; (2) segregation analysis and a method of using incomplete pedigree d

SUBMITTER: Phelan CM 

PROVIDER: S-EPMC1735988 | biostudies-literature | 2005 Feb

REPOSITORIES: biostudies-literature