Update on Lynch syndrome genomics (InSiGHT)

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 This review provides an update of germline mutations causing susceptibility to LS based on information available in the InSiGHT database and the latest literature.

 MLH1, MSH2, MSH6 and PMS2 account for 40, 34, 18, and 8 %, respectively, of the 3000 unique germline sequence variants of MMR genes deposited to the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) database ([16] and www.​insight-group.​org, date accessed December 19th, 2015).

 

Fig. 4

Tumor-specific patterns of MMR defects. Percentages of tumors with MSI-high and MMR protein inactivation among cancers arising in different organs in germline carriers of MMR gene mutations from a nation-wide registry [57, 61, 62] are shown