Abstract
Patients with Lynch syndrome have a high risk of colorectal cancer (CRC). In this study, we estimated the age- and sex-specific cumulative risks of CRC in Han Chinese patients with Lynch syndrome caused by the pathogenic germline mutations in MLH1 or MSH2 in Taiwan. Based on 321 mutation carriers and 419 non-mutation carriers from 75 pedigrees collected in an Amsterdam criteria family registry in Taiwan, the age- and sex-specific cumulative risks of CRC in male carriers of mutation in MLH1 and MSH2 at the age of 70 years were 60.3% (95% confidence interval (CI) = 31.1%–89.9%) and 76.7% (95% CI = 37.2%–99.0%), respectively. For females, the cumulative risks of CRC at the age of 70 were estimated to be 30.6% (95% CI = 14.3%–57.7%) and 49.3% (95% CI = 21.9%–84.5%) in the carriers of MLH1 and MSH2 germline mutations, respectively. In conclusion, the cumulative risks of CRC at the age of 70 in the Han Chinese patients is higher in mutation carriers than non-mutation carriers and male mutation carriers have a higher cumulative risk of developing CRC than the female mutation carriers.
Highlights
IntroductionWe estimated the age- and sex-specific cumulative risks of colorectal cancer (CRC) in Han Chinese patients with Lynch syndrome caused by the pathogenic germline mutations in MLH1 or MSH2 in Taiwan
Patients with Lynch syndrome have a high risk of colorectal cancer (CRC)
According to mutation analysis of MLH1 and MSH2, the sample used in the current study consisted of 321 proven germline mutation carriers and 419 non-mutation carriers from 75 pedigrees collected in an Amsterdam criteria family registry in Taiwan (Table 1)
Summary
We estimated the age- and sex-specific cumulative risks of CRC in Han Chinese patients with Lynch syndrome caused by the pathogenic germline mutations in MLH1 or MSH2 in Taiwan. In the Netherlands, Quehenberger et al reported a cumulative risk of 27% and 23% of CRC in male and female mutation carriers at the age of 70, respectively, after adjustment for ascertainment b ias[11]. A population-based study in Australia reported CRC cumulative risks of 45% and 38% in male and female patients, respectively, at the age of 70 after correct adjustment for ascertainment bias[12]. The objective of the present study was to estimate the age- and sexspecific cumulative risks of CRC in the Han Chinese population in Taiwan by using a relatively large sample size of 75 Lynch syndrome families
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