Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.

ABSTRACT:

Background

The vast majority of BRCA1 missense sequence variants remain uncharacterized for their possible effect on protein expression and function, and therefore are unclassified in terms of their pathogenicity. BRCA1 plays diverse cellular roles and it is unlikely that any single functional assay will accurately reflect the total cellular implications of missense mutations in this gene.

Objective

To elucidate the effect of two BRCA1 variants, 5236G>C (G1706A) and 5242C>A (A1708E) on BRCA1 function, and to survey the relative usefulness of several assays to direct the characterisation of other unclassified variants in BRCA genes.

Methods and results

Data from a range of bioinformatic, genetic, and histopathological analyses, and in vitro functional assays indicated

SUBMITTER: Lovelock PK 

PROVIDER: S-EPMC2564506 | biostudies-literature | 2006 Jan

REPOSITORIES: biostudies-literature