Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.

ABSTRACT:

Introduction

PALB2 is emerging as a high-penetrance breast cancer predisposition gene in the order of BRCA1 and BRCA2. However, large studies that have evaluated the full gene rather than just the most common variants in both cases and controls are required before all truncating variants can be included in familial breast cancer variant testing.

Methods

In this study we analyse almost 2000 breast cancer cases sourced from individuals referred to familial cancer clinics, thus representing typical cases presenting in clinical practice. These cases were compared to a similar number of population-based cancer-free controls.

Results

We identified a significant excess of truncating variants in cases (1.3 %) versus controls (0.2 %), including six novel variants (p = 0.0001;

SUBMITTER: Thompson ER 

PROVIDER: S-EPMC4539664 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature