{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T12:18:17Z","timestamp":1769602697703,"version":"3.49.0"},"reference-count":14,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2005,11,14]],"date-time":"2005-11-14T00:00:00Z","timestamp":1131926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The Swiss National Science Foundation","award":["3200-067571"],"award-info":[{"award-number":["3200-067571"]}]},{"name":"Swiss Cancer League\/Oncosuisse","award":["01358-03-2003"],"award-info":[{"award-number":["01358-03-2003"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2006,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In 10\u201330% of patients with classical familial adenomatous polyposis (FAP) and up to 90% of those with attenuated (&lt;100 colorectal adenomas; AFAP) polyposis, no pathogenic germline mutation in the adenomatous polyposis coli (<jats:italic>APC<\/jats:italic>) gene can be identified (<jats:italic>APC<\/jats:italic> mutation\u2010negative). Recently, biallelic mutations in the base excision repair gene <jats:italic>MYH<\/jats:italic> have been shown to predispose to a multiple adenoma and carcinoma phenotype. This study aimed to (<jats:italic>i<\/jats:italic>) assess the <jats:italic>MYH<\/jats:italic> mutation carrier frequency among Swiss <jats:italic>APC<\/jats:italic> mutation\u2010negative patients and (<jats:italic>ii<\/jats:italic>) identify phenotypic differences between <jats:italic>MYH<\/jats:italic> mutation carriers and <jats:italic>APC\/MYH<\/jats:italic> mutation\u2010negative polyposis patients. Seventy\u2010nine unrelated <jats:italic>APC<\/jats:italic> mutation\u2010negative Swiss patients with either classical (<jats:italic>n<\/jats:italic> = 18) or attenuated (<jats:italic>n<\/jats:italic> = 61) polyposis were screened for germline mutations in <jats:italic>MYH<\/jats:italic> by dHPLC and direct genomic DNA sequencing. Overall, 7 (8.9%) biallelic and 9 (11.4%) monoallelic <jats:italic>MYH<\/jats:italic> germline mutation carriers were identified. Among patients with a family history compatible with autosomal recessive inheritance (<jats:italic>n<\/jats:italic> = 45), 1 (10.0%) out of 10 classical polyposis and 6 (17.1%) out of 35 attenuated polyposis patients carried biallelic <jats:italic>MYH<\/jats:italic> alterations, 2 of which represent novel gene variants (p.R171Q and p.R231H). Colorectal cancer was significantly (<jats:italic>p<\/jats:italic> &lt; 0.007) more frequent in biallelic mutation carriers (71.4%) compared with that of monoallelic and <jats:italic>MYH<\/jats:italic> mutation\u2010negative polyposis patients (0 and 13.8%, respectively). On the basis of our findings and earlier reports, <jats:italic>MYH<\/jats:italic> mutation screening should be considered if all of the following criteria are fulfilled: (<jats:italic>i<\/jats:italic>) presence of classical or attenuated polyposis coli, (<jats:italic>ii<\/jats:italic>) absence of a pathogenic <jats:italic>APC<\/jats:italic> mutation, and (<jats:italic>iii<\/jats:italic>) a family history compatible with an autosomal recessive mode of inheritance. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ijc.21470","type":"journal-article","created":{"date-parts":[[2005,11,16]],"date-time":"2005-11-16T23:52:30Z","timestamp":1132185150000},"page":"1937-1940","source":"Crossref","is-referenced-by-count":48,"title":["Prevalence of <i>MYH<\/i> germline mutations in Swiss <i>APC<\/i> mutation\u2010negative polyposis patients"],"prefix":"10.1002","volume":"118","author":[{"given":"Anna M.","family":"Russell","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"Luz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Hutter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre O.","family":"Chappuis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudine Rey","family":"Berthod","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Maillet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hansjakob","family":"Mueller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karl","family":"Heinimann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,14]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.7.721"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/3865"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/303058"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<376::AID-HUMU7>3.0.CO;2-D"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng828"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.23.2961"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMe030002"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa025283"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)13805-6"},{"key":"e_1_2_6_11_2","first-page":"7616","article-title":"Nontruncating apc germ\u2010line mutations and mismatch repair deficiency play a minor role in apc mutation\u2010negative polyposis","volume":"61","author":"Heinimann K","year":"2001","journal-title":"Cancer Res"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)63443-8"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/4168"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djh288"}],"container-title":["International Journal of Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fijc.21470","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ijc.21470","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T05:08:41Z","timestamp":1697173721000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ijc.21470"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,11,14]]},"references-count":14,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2006,4,15]]}},"alternative-id":["10.1002\/ijc.21470"],"URL":"https:\/\/doi.org\/10.1002\/ijc.21470","archive":["Portico"],"relation":{},"ISSN":["0020-7136","1097-0215"],"issn-type":[{"value":"0020-7136","type":"print"},{"value":"1097-0215","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,11,14]]}}}