Introduction: Patients with Lynch syndrome have a high risk of colorectal cancer (CRC). In this study, we estimated the penetrance of CRC in Chinese patients with Lynch syndrome. Materials and Methods: One hundred and thirty-three families comprising 1009 members were collected. Each family was ascertained through a proband with a diagnosed CRC. Of these subjects, 300 were carriers of germline mutations in MLH1 or MSH2, whereas 709 were non-mutation carriers of these mutations. Penetrance of CRC were calculated using modified segregation analysis implemented by Mendel. Results: The median age at CRC diagnosis were younger in patients with Lynch syndrome than in non-mutation carriers (44.3 vs. 50.4 years, P = 0.0001). The cumulative risk (penetrance) of CRC at the age of 70 years were 36.5% (95% CI = 27.7%–46.9%), 34.8% (95% CI = 26.1%–45.5%), and 42.7% (95% CI = 30.1%–57.8%) in the male carriers of MLH1 or MSH2, MLH1, and MSH2 germline mutations, respectively. Conclusions: Penetrance of CRC in Chinese patients with Lynch syndrome is 34.8%–42.7% in men and 24.5%–32.2% in women.
Date:
2019-10
Relation:
European Journal of Human Genetics. 2019 Oct;27(Suppl. 2):1580.
