Identity by descent mapping of founder mutations in cancer using high-resolution tumor SNP data.

ABSTRACT: Dense genotype data can be used to detect chromosome fragments inherited from a common ancestor in apparently unrelated individuals. A disease-causing mutation inherited from a common founder may thus be detected by searching for a common haplotype signature in a sample population of patients. We present here FounderTracker, a computational method for the genome-wide detection of founder mutations in cancer using dense tumor SNP profiles. Our method is based on two assumptions. First, the wild-type allele frequently undergoes loss of heterozygosity (LOH) in the tumors of germline mutation carriers. Second, the overlap between the ancestral chromosome fragments inherited from a common founder will define a minimal haplotype conserved in each patient carrying the founder mutation. Our approa

SUBMITTER: Letouze E 

PROVIDER: S-EPMC3342326 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature