{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T12:05:54Z","timestamp":1791115554765,"version":"4.1.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2013,9,26]],"date-time":"2013-09-26T00:00:00Z","timestamp":1380153600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2014,3]]},"DOI":"10.1007\/s10689-013-9676-1","type":"journal-article","created":{"date-parts":[[2013,9,25]],"date-time":"2013-09-25T11:52:57Z","timestamp":1380109977000},"page":"131-135","source":"Crossref","is-referenced-by-count":21,"title":["Diversity of the clinical presentation of the MMR gene biallelic mutations"],"prefix":"10.1007","volume":"13","author":[{"given":"Ga\u00eblle","family":"Bougeard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Olivier-Faivre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Baert-Desurmont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Tinat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cosette","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie","family":"Bouvignies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Vasseur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Huet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00e9rard","family":"Couillault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Vabres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Le Pessot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Chapusot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Malka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Bressac-de Paillerets","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Tosi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Frebourg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,9,26]]},"reference":[{"key":"9676_CR1","first-page":"290","volume":"59","author":"MD Ricciardone","year":"1999","unstructured":"Ricciardone MD, Oz\u00e7elik T, Cevher B, Ozda\u011f H, Tuncer M, G\u00fcrgey A, Uzunalimo\u011flu O, Centinkaya H, Tanyeli A, Erken E, Ozt\u00fcrk M (1999) Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res 59:290\u2013293","journal-title":"Cancer Res"},{"key":"9676_CR2","first-page":"294","volume":"59","author":"Q Wang","year":"1999","unstructured":"Wang Q, Lasset C, Desseigne F, Frappaz D, Bergeron C, Navarro C, Ruano E, Puisieux A (1999) Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res 59:294\u2013297","journal-title":"Cancer Res"},{"key":"9676_CR3","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1111\/j.1399-0004.2007.00803.x","volume":"71","author":"KE Felton","year":"2007","unstructured":"Felton KE, Gilchrist DM, Andrew SE (2007) Constitutive deficiency in DNA mismatch repair. Clin Genet 71:483\u2013498","journal-title":"Clin Genet"},{"key":"9676_CR4","doi-asserted-by":"crossref","first-page":"699","DOI":"10.3324\/haematol.2009.021626","volume":"95","author":"K Wimmer","year":"2010","unstructured":"Wimmer K, Kratz CP (2010) Constitutional mismatch repair-deficiency syndrome. Haematologica 95:699\u2013701","journal-title":"Haematologica"},{"key":"9676_CR5","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1136\/jmg.2006.048660","volume":"44","author":"J Barwell","year":"2007","unstructured":"Barwell J, Pangon L, Hodgson S, Georgiou A, Kesterton I, Slade T, Taylor M, Payne SJ, Brinkman H, Smythe J, Sebire NJ, Solomon E, Docherty Z, Camplejohn R, Homfray T, Morris JR (2007) Biallelic mutation of MSH2 in primary human cells is associated with sensitivity to irradiation and altered RAD51 foci kinetics. J Med Genet 44:516\u2013520","journal-title":"J Med Genet"},{"key":"9676_CR6","first-page":"5248","volume":"58","author":"CR Boland","year":"1998","unstructured":"Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, Meltzer SJ, Rodriguez-Bigas MA, Fodde R, Ranzani GN, Srivastava S (1998) A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 58:5248\u20135257","journal-title":"Cancer Res"},{"key":"9676_CR7","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1086\/420796","volume":"74","author":"M Vos De","year":"2004","unstructured":"De Vos M, Hayward BE, Picton S, Sheridan E, Bonthron DT (2004) Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am J Hum Genet 74:954\u2013964","journal-title":"Am J Hum Genet"},{"key":"9676_CR8","doi-asserted-by":"crossref","first-page":"1886","DOI":"10.1111\/j.1572-0241.2005.50441.x","volume":"100","author":"M Agostini","year":"2005","unstructured":"Agostini M, Tibiletti MG, Lucci-Cordisco E, Chiaravalli A, Morreau H, Furlan D, Boccuto L, Pucciarelli S, Capella C, Boiocchi M, Viel A (2005) Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. Am J Gastroenterol 100:1886\u20131891","journal-title":"Am J Gastroenterol"},{"key":"9676_CR9","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1002\/humu.20569","volume":"28","author":"J Auclair","year":"2007","unstructured":"Auclair J, Leroux D, Desseigne F, Lasset C, Saurin JC, Joly MO, Pinson S, Xu XL, Montmain G, Ruano E, Navarro C, Puisieux A, Wang Q (2007) Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. Hum Mutat 28:1084\u20131090","journal-title":"Hum Mutat"},{"key":"9676_CR10","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1053\/j.gastro.2008.04.026","volume":"135","author":"L Senter","year":"2008","unstructured":"Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, Young J, Winship I, Dowty JG, White DM, Hopper JL, Baglietto L, Jenkins MA, de la Chapelle A (2008) The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 135:419\u2013428","journal-title":"Gastroenterology"},{"key":"9676_CR11","doi-asserted-by":"crossref","first-page":"2449","DOI":"10.1038\/ajg.2010.215","volume":"105","author":"CA Durno","year":"2010","unstructured":"Durno CA, Holter S, Sherman PM, Gallinger S (2010) The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol 105:2449\u20132456","journal-title":"Am J Gastroenterol"},{"key":"9676_CR12","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1111\/j.1399-0004.2010.01608.x","volume":"80","author":"CH Leenen","year":"2011","unstructured":"Leenen CH, Geurts-Giele WR, Dubbink HJ, Reddingius R, van den Ouweland AM, Tops CM, van de Klift HM, Kuipers EJ, van Leerdam ME, Dinjens WN, Wagner A (2011) Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations. Clin Genet 80:558\u2013565","journal-title":"Clin Genet"},{"key":"9676_CR13","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1016\/j.dnarep.2012.04.004","volume":"11","author":"P Vasovcak","year":"2012","unstructured":"Vasovcak P, Krepelova A, Menigatti M, Puchmajerova A, Skapa P, Augustinakova A, Amann G, Wernstedt A, Jiricny J, Marra G, Wimmer K (2012) Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency. DNA Repair (Amst) 11:616\u2013623","journal-title":"DNA Repair (Amst)"},{"key":"9676_CR14","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/pbc.24254","volume":"60","author":"JT Yeung","year":"2013","unstructured":"Yeung JT, Pollack IF, Shah S, Jaffe R, Nikiforova M, Jakacki RI (2013) Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1. Pediatr Blood Cancer 60:137\u2013139","journal-title":"Pediatr Blood Cancer"},{"key":"9676_CR15","doi-asserted-by":"crossref","first-page":"2304","DOI":"10.1001\/jama.2011.743","volume":"305","author":"V Bonadona","year":"2001","unstructured":"Bonadona V, Bona\u00efti B, Olschwang S, Grandjouan S, Huiart L, Longy M, Guimbaud R, Buecher B, Bignon YJ, Caron O, Colas C, Nogu\u00e8s C, Lejeune-Dumoulin S, Olivier-Faivre L, Polycarpe-Osaer F, Nguyen TD, Desseigne F, Saurin JC, Berthet P, Leroux D, Duffour J, Manouvrier S, Fr\u00e9bourg T, Sobol H, Lasset C, Bona\u00efti-Pelli\u00e9 C, French Cancer Genetics Network (2001) Cancer risk associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA 305:2304\u20132310","journal-title":"JAMA"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-013-9676-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-013-9676-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-013-9676-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T17:46:12Z","timestamp":1559238372000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-013-9676-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9,26]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["9676"],"URL":"https:\/\/doi.org\/10.1007\/s10689-013-9676-1","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,9,26]]}}}