{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T00:40:17Z","timestamp":1696898417616},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2007,1,8]],"date-time":"2007-01-08T00:00:00Z","timestamp":1168214400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2007,2]]},"abstract":"<jats:p>Subjects affected by hereditary non\u2010polyposis colorectal cancer exhibit a high susceptibility to colon and extracolonic tumours, due to MMR gene defects. Revised Bethesda criteria are used to select patients as candidates for genetic tests. Recently, the <jats:sc>crcapro<\/jats:sc> model has been developed, based on family history of colorectal and endometrial cancers. Our study aims to evaluate the reliability of <jats:sc>crcapro<\/jats:sc> in identifying mutation carriers. We used the <jats:sc>crcapro<\/jats:sc> program to evaluate carrier probability risk in 99 patients fulfilling Amsterdam or Bethesda guidelines.<jats:italic> MLH1 <\/jats:italic>and<jats:italic> MSH2 <\/jats:italic>were studied by direct sequencing in all the 99 patients, and the study of microsatellite instability and of MMR proteins expression was performed. Nine<jats:italic> MLH1 <\/jats:italic>and nine<jats:italic> MSH2 <\/jats:italic>germline mutations were identified. Five out of the nine patients with<jats:italic> MLH1 <\/jats:italic>mutation showed a <jats:sc>crcapro<\/jats:sc> risk evaluation of less than 20%. The same happened for four out of nine patients with<jats:italic> MSH2 <\/jats:italic>mutation. Of the 17 patients with an estimated risk of more than 80%, only four harboured a mutation, all in the<jats:italic> MSH2 <\/jats:italic>gene. The highest risk calculated by the <jats:sc>crcapro<\/jats:sc> system in the nine carriers of a<jats:italic> MLH1 <\/jats:italic>mutation has been 31.7%. In our experience, the <jats:sc>crcapro<\/jats:sc> program sensitivity and specificity appears to be low but needs to be further evaluated in larger samples.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00746.x","type":"journal-article","created":{"date-parts":[[2007,1,8]],"date-time":"2007-01-08T09:31:22Z","timestamp":1168248682000},"page":"158-164","source":"Crossref","is-referenced-by-count":8,"title":["Effectiveness of the <scp>crcapro<\/scp> program in identifying patients suspected for HNPCC"],"prefix":"10.1111","volume":"71","author":[{"given":"F","family":"Bianchi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Galizia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Bracci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Belvederesi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Catalani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Loretelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Giorgetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Ferretti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Bearzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Porfiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Cellerino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,1,23]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrc1453"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-0956-3"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02053699"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrc1278"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/89.23.1758"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djh034"},{"key":"e_1_2_5_8_2","first-page":"4545","article-title":"Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC)","volume":"61","author":"Loukola A","year":"2001","journal-title":"Cancer Res"},{"key":"e_1_2_5_9_2","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1200\/JCO.2002.20.4.1043","article-title":"Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumours","volume":"20","author":"Lindor NM","year":"2002","journal-title":"J Clin Oncol"},{"key":"e_1_2_5_10_2","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1200\/JCO.2002.20.4.897","article-title":"Microsatellite instability phenotype of tumours: genotyping or immunohistochemistry? 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