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Evaluation of the tumor revealed abnormal immunohistochemical staining of the PMS2 protein and high frequency microsatellite instability. Germline analysis identified biallelic <jats:italic>PMS2<\/jats:italic> missense mutations. A new cancer syndrome caused by biallelic mutations in the mismatch repair genes, including <jats:italic>PMS2<\/jats:italic>, is now emerging and is characterized by caf\u00e9\u2010au\u2010lait macules, colonic polyps and a distinctive tumor spectrum. Pediatr Blood Cancer 2008;50:1268\u20131270. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/pbc.21514","type":"journal-article","created":{"date-parts":[[2008,2,13]],"date-time":"2008-02-13T18:17:35Z","timestamp":1202926655000},"page":"1268-1270","source":"Crossref","is-referenced-by-count":26,"title":["Caf\u00e9\u2010au\u2010lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene <i>PMS2<\/i>"],"prefix":"10.1002","volume":"50","author":[{"given":"Carl\u2010Christian","family":"Jackson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Spring","family":"Holter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron","family":"Pollett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Clendenning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirley","family":"Chou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leigha","family":"Senter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raveena","family":"Ramphal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Gallinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kym","family":"Boycott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,2,13]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00803.x"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00801.x"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.048942"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.296.12.1507"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2005.066092"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2006.01.005"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20318"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1572-0241.2005.50441.x"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1203447"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1013881832014"},{"key":"e_1_2_4_12_2","doi-asserted-by":"publisher","DOI":"10.1086\/420796"},{"key":"e_1_2_4_13_2","first-page":"358","volume":"98","author":"De Vos M","year":"2006","journal-title":"PMS2 mutations in childhood cancer"},{"key":"e_1_2_4_14_2","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2006.11.043"},{"key":"e_1_2_4_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-007-0474-3"},{"key":"e_1_2_4_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20569"},{"key":"e_1_2_4_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0858-4"},{"key":"e_1_2_4_18_2","first-page":"1821","volume":"54","author":"Bonthron DT","year":"2005","journal-title":"PMS2 mutations in childhood cancer"},{"key":"e_1_2_4_19_2","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2003.11.008"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.21514","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.21514","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.21514","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T11:39:37Z","timestamp":1697629177000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.21514"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2,13]]},"references-count":18,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2008,6]]}},"alternative-id":["10.1002\/pbc.21514"],"URL":"https:\/\/doi.org\/10.1002\/pbc.21514","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,2,13]]}}}