{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:45:26Z","timestamp":1786977926595,"version":"build-2736575974"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,1,22]],"date-time":"2004-01-22T00:00:00Z","timestamp":1074729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2004,5]]},"abstract":"Abstract<\/jats:title>\n \n Biallelic germline mutations in the base excision repair gene\n MYH<\/jats:italic>\n have been reported in patients with multiple colorectal adenomas and cancer and in sporadic FAP patients not showing a detectable\n APC<\/jats:italic>\n germline mutation. In this study, the prevalence of the common Y165C and G382D germline variants of the\n MYH<\/jats:italic>\n gene was examined in 70 FAP\/AAPC patients with no detectable\n APC<\/jats:italic>\n mutation and a family history compatible with recessive inheritance. In addition, 141 normal\u2010population adenoma patients (mean number of adenomas, 2.8; range, 1\u20139) and 52 clean colon controls were studied. The entire coding region of the\n MYH<\/jats:italic>\n gene was analyzed in Y165C or G382D heterozygous patients. Since the same second mutational event (a 3 bp deletion in exon 14, 1395delGGA) was detected in 3 patients, the prevalence of this variant was also examined in all groups. In all, 14 of 70 patients in the FAP\/AAPC group (20%; 95% CI = 11.7\u201331.6%) had biallelic germline\n MYH<\/jats:italic>\n variants and 3 were heterozygotes (4.3%). None of the 141 normal\u2010population adenoma patients carried biallelic germline\n MYH<\/jats:italic>\n variants (95% CI = 0.06\u20134.1%) and 3 were heterozygotes (2.1%). In the control group, no\n MYH<\/jats:italic>\n variants were detected. These results indicated that\n MYH<\/jats:italic>\n \u2010associated polyposis (MAP) is present in about 20% of Italian FAP\/AAPC patients, in whom no germline\n APC<\/jats:italic>\n mutation is detectable and showing a family history compatible with recessive inheritance, and in a small fraction of patients with colorectal adenomas in the general population. In addition, our data suggest that mutation 1395delGGA is a subpolymorphic\n MYH<\/jats:italic>\n mutational event in some Caucasian populations. \u00a9 2004 Wiley\u2010Liss, Inc.\n <\/jats:p>","DOI":"10.1002\/ijc.20054","type":"journal-article","created":{"date-parts":[[2004,3,1]],"date-time":"2004-03-01T03:02:15Z","timestamp":1078110135000},"page":"680-684","source":"Crossref","is-referenced-by-count":134,"title":["Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the\n MYH<\/i>\n gene in Italian patients with adenomatous polyposis coli and colorectal adenomas"],"prefix":"10.1002","volume":"109","author":[{"given":"Viviana","family":"Gismondi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Meta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigina","family":"Bonelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Radice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Sala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucio","family":"Bertario","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Viel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mara","family":"Fornasarig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arrigo","family":"Arrigoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mattia","family":"Gentile","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Ponz 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