Authors
Aung Ko Win, Joanne P Young, Noralane M Lindor, Katherine M Tucker, Dennis J Ahnen, Graeme P Young, Daniel D Buchanan, Mark Clendenning, Graham G Giles, Ingrid Winship, Finlay A Macrae, Jack Goldblatt, Melissa C Southey, Julie Arnold, Stephen N Thibodeau, Shanaka R Gunawardena, Bharati Bapat, John A Baron, Graham Casey, Steven Gallinger, Loïc Le Marchand, Polly A Newcomb, Robert W Haile, John L Hopper, Mark A Jenkins
Publication date
2012/2/13
Journal
Journal of Clinical Oncology
Volume
30
Issue
9
Pages
958-964
Publisher
American Society of Clinical Oncology
Description
Purpose
To determine whether cancer risks for carriers and noncarriers from families with a mismatch repair (MMR) gene mutation are increased above the risks of the general population.
Patients and Methods
We prospectively followed a cohort of 446 unaffected carriers of an MMR gene mutation (MLH1, n = 161; MSH2, n = 222; MSH6, n = 47; and PMS2, n = 16) and 1,029 their unaffected relatives who did not carry a mutation every 5 years at recruitment centers of the Colon Cancer Family Registry. For comparison of cancer risk with the general population, we estimated country-, age-, and sex-specific standardized incidence ratios (SIRs) of cancer for carriers and noncarriers.
Results
Over a median follow-up of 5 years, mutation carriers had an increased risk of colorectal cancer (CRC; SIR, 20.48; 95% CI, 11.71 to 33.27; P < .001), endometrial cancer (SIR, 30.62; 95% CI, 11.24 to 66.64; P < .001), ovarian …
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Scholar articles
AK Win, JP Young, NM Lindor, KM Tucker, DJ Ahnen… - Journal of clinical oncology, 2012