作者
Laura Baglietto, Noralane M Lindor, James G Dowty, Darren M White, Anja Wagner, Encarna B Gomez Garcia, Annette HJT Vriends, Nicola R Cartwright, Rebecca A Barnetson, Susan M Farrington, Albert Tenesa, Heather Hampel, Daniel Buchanan, Sven Arnold, Joanne Young, Michael D Walsh, Jeremy Jass, Finlay Macrae, Yoland Antill, Ingrid M Winship, Graham G Giles, Jack Goldblatt, Susan Parry, Graeme Suthers, Barbara Leggett, Malinda Butz, Melyssa Aronson, Jenny N Poynter, John A Baron, Loic Le Marchand, Robert Haile, Steve Gallinger, John L Hopper, John Potter, Albert De La Chapelle, Hans F Vasen, Malcolm G Dunlop, Stephen N Thibodeau, Mark A Jenkins
发表日期
2010/2/3
期刊
Journal of the National Cancer Institute
卷号
102
期号
3
页码范围
193-201
出版商
Oxford University Press
简介
Background
Germline mutations in MSH6 account for 10%–20% of Lynch syndrome colorectal cancers caused by hereditary DNA mismatch repair gene mutations. Because there have been only a few studies of mutation carriers, their cancer risks are uncertain.
Methods
We identified 113 families of MSH6 mutation carriers from five countries that we ascertained through family cancer clinics and population-based cancer registries. Mutation status, sex, age, and histories of cancer, polypectomy, and hysterectomy were sought from 3104 of their relatives. Age-specific cumulative risks for carriers and hazard ratios (HRs) for cancer risks of carriers, compared with those of the general population of the same country, were estimated by use of a modified segregation analysis with appropriate conditioning depending on ascertainment.
Results
For MSH6 mutation …
引用总数
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L Baglietto, NM Lindor, JG Dowty, DM White, A Wagner… - Journal of the national cancer institute, 2010
