{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:58:42Z","timestamp":1791356322104,"version":"4.3.1"},"reference-count":50,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,6,2]],"date-time":"2016-06-02T00:00:00Z","timestamp":1464825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["UM1 CA167551"],"award-info":[{"award-number":["UM1 CA167551"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:p>Germline mutations in the DNA base excision repair gene <jats:italic>MUTYH<\/jats:italic> are known to increase a carrier's risk of colorectal cancer. However, the risks of other (extracolonic) cancers for <jats:italic>MUTYH<\/jats:italic> mutation carriers are not well defined. We identified 266 probands (91% Caucasians) with a <jats:italic>MUTYH<\/jats:italic> mutation (41 biallelic and 225 monoallelic) from the Colon Cancer Family Registry. Mutation status, sex, age and histories of cancer from their 1,903 first\u2010 and 3,255 second\u2010degree relatives were analyzed using modified segregation analysis conditioned on the ascertainment criteria. Compared with incidences for the general population, hazard ratios (HRs) (95% confidence intervals [CIs]) for biallelic <jats:italic>MUTYH<\/jats:italic> mutation carriers were: urinary bladder cancer 19 (3.7\u201397) and ovarian cancer 17 (2.4\u2013115). The HRs (95% CI) for monoallelic <jats:italic>MUTYH<\/jats:italic> mutation carriers were: gastric cancer 9.3 (6.7\u201313); hepatobiliary cancer 4.5 (2.7\u20137.5); endometrial cancer 2.1 (1.1\u20133.9) and breast cancer 1.4 (1.0\u20132.0). There was no evidence for an increased risk of cancers at the other sites examined (brain, pancreas, kidney or prostate). Based on the USA population incidences, the estimated cumulative risks (95% CI) to age 70 years for biallelic mutation carriers were: bladder cancer 25% (5\u201377%) for males and 8% (2\u201333%) for females and ovarian cancer 14% (2\u201365%). The cumulative risks (95% CI) for monoallelic mutation carriers were: gastric cancer 5% (4\u20137%) for males and 2.3% (1.7\u20133.3%) for females; hepatobiliary cancer 3% (2\u20135%) for males and 1.4% (0.8\u20132.3%) for females; endometrial cancer 3% (2%\u20136%) and breast cancer 11% (8\u201316%). These unbiased estimates of both relative and absolute risks of extracolonic cancers for people, mostly Caucasians, with <jats:italic>MUTYH<\/jats:italic> mutations will be important for their clinical management.<\/jats:p>","DOI":"10.1002\/ijc.30197","type":"journal-article","created":{"date-parts":[[2016,5,19]],"date-time":"2016-05-19T18:51:43Z","timestamp":1463683903000},"page":"1557-1563","source":"Crossref","is-referenced-by-count":142,"title":["Risk of extracolonic cancers for people with biallelic and monoallelic mutations in <i>MUTYH<\/i>"],"prefix":"10.1002","volume":"139","author":[{"given":"Aung Ko","family":"Win","sequence":"first","affiliation":[{"name":"Centre for Epidemiology and Biostatistics Melbourne School of Population and Global Health The University of Melbourne Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanette C.","family":"Reece","sequence":"additional","affiliation":[{"name":"Centre for Epidemiology and 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