Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data.

Author(s): Dunkhase E,  Ludwig KU,  Knapp M,  Skibola CF,  Figueiredo JC,  Hosking FJ,  Ellinghaus E,  Landi MT,  Ma H,  Nakagawa H,  Kim JW,  Han J,  Yang P,  Böhmer AC,  Mattheisen M,  Nöthen MM,  Mangold E

Journal: Genom Data

Date: 2016 Dec

Major Program(s) or Research Group(s): PLCO

PubMed ID: 27630819

PMC ID: PMC5013250

Abstract: Previous research suggests a genetic overlap between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and cancer. The aim of the present study was to identify common genetic risk loci for NSCL/P and cancer entities that have been reported to co-occur with orofacial clefting. This was achieved through the investigation of large genome-wide association study datasets. Investigations of 12 NSCL/P single nucleotide polymorphisms (SNPs) in 32 cancer datasets, and 204 cancer SNPs in two NSCL/P datasets, were performed. The SNPs rs13041247 (20q12) and rs6457327 (6p21.33) showed suggestive evidence for an association with both NSCL/P and a specific cancer entity. These loci harbor genes of biological relevance to oncogenesis (MAFB and OCT4, respectively). This study is the first to characterize possible pleiotropic risk loci for NSCL/P and cancer in a systematic manner. The data represent a starting point for future research by identifying a genetic link between NSCL/P and cancer.