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

Fam Cancer. 2018 Apr;17(2):205-208. doi: 10.1007/s10689-017-0016-8.


The 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 and BMPR1a mutations has been identified in the Finnish population; however these findings have not been independently replicated. To investigate a potential connection between BMPR1a 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 pathogenic BMPR1a mutations were uncovered. Our findings highlight that BMPR1a mutations are not a major contributor of FCCTX incidence in NL. Further investigation of additional FCCTX populations may assist in delineating a role for BMPR1a, if any, in FCCTX globally.

Keywords: BMPR1a; Candidate gene; Familial colorectal cancer type X; Newfoundland and Labrador.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Bone Morphogenetic Protein Receptors, Type I / genetics*
  • Cohort Studies
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / epidemiology
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • DNA Mutational Analysis
  • Early Detection of Cancer / methods*
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Testing / methods
  • Humans
  • Incidence
  • Male
  • Middle Aged
  • Mutation
  • Newfoundland and Labrador / epidemiology


  • BMPR1A protein, human
  • Bone Morphogenetic Protein Receptors, Type I