Nature Scientific reports, Vol. 8, Issue 1, Pages 12122, 2018

PMID: 30108227

Lynch syndrome (LS) is a cancer predisposition disorder wherein patients have a 70-80% lifetime risk of developing colorectal cancers (CRC). Finding germline mutations in predisposing genes allows for risk assessment of CRC development. Here we report a germline heterozygous frame-shift mutation in the mismatch repair MLH1 gene which was identified in members of two unrelated LS families.

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  https://www.ncbi.nlm.nih.gov/pubmed/30108227