Screening of BMPR1a for pathogenic mutations in familial colorectal cancer type X families from Newfoundland

AbstractThe Canadian province of Newfoundland and Labrador (NL) reports one of the highest incidence rates of familial colorectal cancer (CRC) worldwide. The NL population is an invaluable resource for studying genetic disorders because of a unique ancestry, and a willingness to participate in research studies. Familial colorectal cancer type X (FCCTX) describes a cluster of families with strong predisposition for CRC, of unknown etiology. A putative link between FCCTX andBMPR1a mutations has been identified in the Finnish population; however these findings have not been independently replicated. To investigate a potential connection betweenBMPR1a and FCCTX, we screened a cohort of 22 probands from unrelated NL FCCTX families using Sanger sequencing. This analysis did not independently replicate findings seen in Finland; as no candidate pathogenicBMPR1a mutations were uncovered. Our findings highlight thatBMPR1a mutations are not a major contributor of FCCTX incidence in NL. Further investigation of additional FCCTX populations may assist in delineating a role forBMPR1a, if any, in FCCTX globally.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research