Journal article

Risk of cancer in MSH6 mutation carriers: an international collaboration.

MA Jenkins, L Baglietto, JG Dowty, HF Vasen, A de la Chapelle, HL Hampel, MG Dunlop, SN Thibodeau, NM Lindor, undefined Colon Cancer Family Registry

J Clin Oncol | Published : 2008


11006 Background: Inherited mutations in mismatch repair genes increase risk of cancer. The majority of studies have concentrated on MLH1 and MSH2. Germline mutations in the mismatch repair gene MSH6 account for about 13% of colorectal cancer caused by mismatch repair gene mutations, however the risk of cancer is uncertain due to the low numbers of carriers studied. METHODS: We identified 113 families of MSH6 mutation carriers (probands) for the analysis from the Netherlands (n=41), USA (n=31), Scotland (n=21), Australia (n=15) and Canada (n=5). These were ascertained from family cancer clinics because of a family history of cancer (n=65) or from cancer registries independent of family histo..

View full abstract