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Background  Approximately 10% of Lynch syndrome families have a mutation in  MSH6  and fewer families have a mutation in  PMS2 . It is assumed that the cancer incidence is the same in families with mutations in  MSH6  as in families with mutations in  MLH1/MSH2  but that the disease tends to occur later in life, little is known about families with  PMS2  mutations. This study reports on our findings on mutation type, cancer risk and age of diagnosis in  MSH6  and  PMS2  families.    Methods  A total of 78 participants (from 29 families) with a mutation in  MSH6  and 7 participants (from 6 families) with a mutation in  PMS2  were included in the current study. A database of de-identified patient information was analysed to extract all relevant information such as mutation type, cancer incidence, age of diagnosis and cancer type in this Lynch syndrome cohort. Cumulative lifetime risk was calculated utilising Kaplan-Meier survival analysis.    Results   MSH6  and  PMS2  mutations represent 10.3% and 1.9%, respectively, of the pathogenic mutations in our Australian Lynch syndrome families. We identified 26 different  MSH6  and 4 different  PMS2  mutations in the 35 families studied. We report 15 novel  MSH6  and 1 novel  PMS2  mutations. The estimated cumulative risk of CRC at age 70 years was 61% (similar in males and females) and 65% for endometrial cancer in MSH6 mutation carriers. The risk of developing CRC is different between males and females at age 50 years, which is 34% for males and 21% for females.    Conclusion  Novel  MSH6  and  PMS2  mutations are being reported and submitted to the current databases for identified Lynch syndrome mutations. Our data provides additional information to add to the genotype-phenotype spectrum for both  MSH6  and  PMS2  mutations.

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer