國家衛生研究院 NHRI:Item 3990099045/12242
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    题名: Age- and sex-specific cumulative risks of colorectal cancer in Han Chinese patients with Lynch syndrome
    作者: Kamiza, A;Wang, W;You, J;Tang, R;Chien, H;Lai, C;Chiu, L;Lo, T;Hung, K;Hsiung, C;Yeh, C
    贡献者: Institute of Population Health Sciences
    摘要: 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.
    日期: 2019-10
    關聯: European Journal of Human Genetics. 2019 Oct;27(Suppl. 2):1580.
    Link to: https://doi.org/10.1038/s41431-019-0494-2
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=1018-4813&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000489313904146
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