Pathogenic germline MCM9 variants are rare in Australian Lynch-like syndrome patients.

摘要: Lynch syndrome is a hereditary cancer caused by the autosomal dominant inheritance of loss-of-function mutations in DNA mismatch repair (MMR) genes. Approximately one quarter clinically suspected cases have no identifiable germline mutation any MMR gene, condition known as Lynch-like (LLS). MCM9 was recently identified helicase mammalian complex and loss activity results microsatellite instability. We hypothesized that pathogenic variants may account for LLS. The 5′UTR coding region were sequenced 109 Australian patients with LLS cross-referenced three population-based databases (dbSNP144, 1000 Genomes, ExAC). functional effect assessed silico PolyPhen-2, SIFT CONDEL. Fifteen included six common SNPs nine unknown significance (VUS) identified. conclude VUS occur small proportion are unlikely to explain most cases.