Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.

ABSTRACT:

Introduction

Population-based studies of breast cancer have estimated that some PALB2 mutations confer a breast cancer risk (penetrance) comparable to the average pathogenic mutation in BRCA2. As this risk is of clinical relevance, we sought to identify mono-allelic PALB2 mutations and determine their frequencies in multiple-case breast cancer families attending Familial Cancer Clinics in Australia and New Zealand.

Methods

The youngest affected woman, not known to carry a mutation in BRCA1 or BRCA2, from 747 multiple-case breast cancer families participating in kConFab were selected for PALB2 mutation screening. The coding and flanking intronic regions of PALB2 in DNA extracted from blood were screened using high-resolution melt curve analysis with Sanger sequencing confirma

SUBMITTER: Teo ZL 

PROVIDER: S-EPMC3672826 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature