Article
Pathogenic germline MCM9 variants are rare in Australian Lynch-like syndrome patients.
Cancer genetics - 1 Nov 2016
Liu Qing, Hesson Luke B, Nunez Andrea C, Packham Deborah, Hawkins Nicholas J, Ward Robyn L, Sloane Mathew A
Abstract excerpt
Lynch syndrome is a hereditary cancer syndrome caused by the autosomal dominant inheritance of loss-of-function mutations in DNA mismatch repair (MMR) genes. Approximately one quarter of clinically suspected cases have no identifiable germline mutation in any MMR gene, a condition known as Lynch-like syndrome (LLS). MCM9 was recently identified as the DNA helicase in the mammalian MMR complex and loss of helicase...
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