Identification of novel variants in colorectal cancer families by high-throughput exome sequencing.

ABSTRACT:

Background

Colorectal cancer (CRC) in densely affected families without Lynch Syndrome may be due to mutations in undiscovered genetic loci. Familial linkage analyses have yielded disparate results; the use of exome sequencing in coding regions may identify novel segregating variants.

Methods

We completed exome sequencing on 40 affected cases from 16 multicase pedigrees to identify novel loci. Variants shared among all sequenced cases within each family were identified and filtered to exclude common variants and single-nucleotide variants (SNV) predicted to be benign.

Results

We identified 32 nonsense or splice-site SNVs, 375 missense SNVs, 1,394 synonymous or noncoding SNVs, and 50 indels in the 16 families. Of particular interest are two validated and replicated mis

SUBMITTER: DeRycke MS 

PROVIDER: S-EPMC3704223 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature