Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population.

ABSTRACT:

Background

Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer (BC) in several populations. Nevertheless its contribution in the South-American population is unknown. The goal of this study was to determine the prevalence of PALB2 mutations in the Chilean population.

Methods

100 Chilean BRCA1/2-negatives familial BC cases were included for the PALB2 mutation analysis. We use conformational sensitive gel electrophoresis and direct sequencing. Using a case-control design, we studied the identified variants in 436 BC cases and 809 controls to evaluate their possible association with BC risk.

Results

No pathogenic mutations were detected. We identified three variants, the variant c.1861C > A not previously described was found in

SUBMITTER: Leyton Y 

PROVIDER: S-EPMC4323211 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature