Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.

ABSTRACT: BACKGROUND:Despite progress in identifying genes associated with breast cancer, many more risk loci exist. Genome-wide association analyses in genetically-homogeneous populations, such as that of Sardinia (Italy), could represent an additional approach to detect low penetrance alleles. METHODS:We performed a genome-wide association study comparing 1431 Sardinian patients with non-familial, BRCA1/2-mutation-negative breast cancer to 2171 healthy Sardinian blood donors. DNA was genotyped using GeneChip Human Mapping 500 K Arrays or Genome-Wide Human SNP Arrays 6.0. To increase genomic coverage, genotypes of additional SNPs were imputed using data from HapMap Phase II. After quality control filtering of genotype data, 1367 cases (9 men) and 1658 controls (1156 men) were analyzed on a total of 2,067,645 SNPs. RESULTS:Overall, 33 genomic regions (67 candidate SNPs) were associated with breast cancer risk at the p

SUBMITTER: Palomba G 

PROVIDER: S-EPMC4434540 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature