Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer

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Win AK, Cleary SP, Dowty JG, Baron JA, Young JP, Buchanan DD, Southey MC, Burnett T, Parfrey PS, Green RC, Le Marchand L, Newcomb PA, Haile RW, Lindor NM, Hopper JL, Gallinger S, Jenkins MA (2011) Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. International journal of cancer. Journal international du cancer 129:2256-2262


Cancer risks for a person who has inherited a MUTYH mutation from only one parent (monoallelic mutation carrier) are uncertain. Using the Colon Cancer Family Registry and Newfoundland Familial Colon Cancer Registry, we identified 2,179 first- and second-degree relatives of 144 incident colorectal cancer (CRC) cases who were monoallelic or biallelic mutation carriers ascertained by sampling population complete cancer registries in the United States, Canada and Australia. Using Cox regression weighted to adjust for sampling on family history, we estimated that the country-, age- and sex-specific standardized incidence ratios (SIRs) for monoallelic mutation carriers, compared to the general population, were: 2.04 (95% confidence interval, CI 1.56-2.70; p < 0.001)="" for="" crc,="" 3.24="" (95%ci="" 2.18-4.98;="" p="">< 0.001)="" for="" gastric="" cancer,="" 3.09="" (95%ci="" 1.07-12.25;="" p="0.07)" for="" liver="" cancer="" and="" 2.33="" (95%ci="" 1.18-5.08;="" p="0.02)" for="" endometrial="" cancer.="" age-specific="" cumulative="" risks="" to="" age="" 70="" years,="" estimated="" using="" the="" sirs="" and="" us="" population="" incidences,="" were:="" for="" crc,="" 6%="" (95%ci="" 5-8%)="" for="" men="" and="" 4%="" (95%ci="" 3-6%)="" for="" women;="" for="" gastric="" cancer,="" 2%="" (95%ci="" 1-3%)="" for="" men="" and="" 0.7%="" (95%ci="" 0.5-1%)="" for="" women;="" for="" liver="" cancer,="" 1%="" (95%ci="" 0.3-3%)="" for="" men="" and="" 0.3%="" (95%ci="" 0.1-1%)="" for="" women="" and="" for="" endometrial="" cancer,="" 4%="" (95%ci="" 2-8%).="" there="" was="" no="" evidence="" of="" increased="" risks="" for="" cancers="" of="" the="" brain,="" pancreas,="" kidney,="" lung,="" breast="" or="" prostate.="" monoallelic="" mutyh="" mutation="" carriers="" with="" a="" family="" history="" of="" crc,="" such="" as="" those="" identified="" from="" screening="" multiple-case="" crc="" families,="" are="" at="" increased="" risk="" of="" colorectal,="" gastric,="" endometrial="" and="" possibly="" liver="">

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