{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T21:05:28Z","timestamp":1761599128634},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,5,10]],"date-time":"2014-05-10T00:00:00Z","timestamp":1399680000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Myriad Genetic Laboratories, Inc."}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,4]]},"abstract":"Abstract<\/jats:title>MUTYH<\/jats:styled-content><\/jats:italic>\u2010associated polyposis (MAP<\/jats:styled-content>) is an autosomal recessive syndrome caused by biallelic mutations in the base excision repair gene MUTYH<\/jats:styled-content><\/jats:italic>. Owing to potential limitations in the MAP<\/jats:styled-content> testing strategy and testing criteria, it is possible that MAP<\/jats:styled-content> is being under\u2010identified both genotypically and phenotypically. To determine whether full sequencing of MUTYH<\/jats:styled-content><\/jats:italic> would increase clinical sensitivity over a founder mutation (FM<\/jats:styled-content>) strategy, a retrospective analysis of two datasets from a commercial clinical laboratory was performed. The first cohort contained 1522 individuals who received MUTYH<\/jats:styled-content><\/jats:italic> analysis for two FM<\/jats:styled-content>s with subsequent full\u2010gene sequencing. Eighty\u2010five biallelic individuals were identified; 47 carried two FM<\/jats:styled-content>s, 17 carried one FM<\/jats:styled-content> and one mutation identified on full sequencing, and 21 carried biallelic mutations identified only on full sequencing. The second cohort contained 921 patients with colorectal cancer <50\u2009years and <10 reported colorectal adenomas who had undergone MUTYH<\/jats:styled-content><\/jats:italic> mutation testing. In this cohort, 19 of 921 (2.1%) individuals were identified as biallelic MUTYH<\/jats:styled-content><\/jats:italic> carriers. Of these, 13 did not have a personal or family history of polyps and would not have met guidelines for MUTYH<\/jats:styled-content><\/jats:italic> testing. These results suggest that individuals with biallelic MUTYH<\/jats:styled-content><\/jats:italic> mutations are under\u2010ascertained based on both genotype and phenotype under current standard testing practices.<\/jats:p>","DOI":"10.1111\/cge.12375","type":"journal-article","created":{"date-parts":[[2014,3,12]],"date-time":"2014-03-12T12:10:52Z","timestamp":1394626252000},"page":"368-372","source":"Crossref","is-referenced-by-count":11,"title":["Analysis of current testing practices for biallelic MUTYH<\/scp><\/i> mutations in MUTYH<\/scp><\/i>\u2010associated polyposis"],"prefix":"10.1111","volume":"87","author":[{"given":"M.","family":"Landon","sequence":"first","affiliation":[{"name":"Myriad Genetic Laboratories, Inc. Salt Lake City UT USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Ceulemans","sequence":"additional","affiliation":[{"name":"Myriad Genetic Laboratories, Inc. Salt Lake City UT USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.S.","family":"Saraiya","sequence":"additional","affiliation":[{"name":"Myriad Genetic Laboratories, Inc. Salt Lake City UT USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Strike","sequence":"additional","affiliation":[{"name":"Myriad Genetic Laboratories, Inc. Salt Lake City UT USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Arnell","sequence":"additional","affiliation":[{"name":"Myriad Genetic Laboratories, Inc. Salt Lake City UT USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.A.","family":"Burbidge","sequence":"additional","affiliation":[{"name":"Myriad Genetic Laboratories, Inc. Salt Lake City UT USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Moyes","sequence":"additional","affiliation":[{"name":"Myriad Genetic Laboratories, Inc. 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