{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T20:17:29Z","timestamp":1790194649954,"version":"4.1.0"},"reference-count":42,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2019,2,1]],"date-time":"2019-02-01T00:00:00Z","timestamp":1548979200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,2,1]],"date-time":"2019-02-01T00:00:00Z","timestamp":1548979200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,2,15]],"date-time":"2020-02-15T00:00:00Z","timestamp":1581724800000},"content-version":"am","delay-in-days":379,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Bulletin du Cancer"],"published-print":{"date-parts":[[2019,2]]},"DOI":"10.1016\/j.bulcan.2018.10.008","type":"journal-article","created":{"date-parts":[[2018,12,11]],"date-time":"2018-12-11T17:52:02Z","timestamp":1544550722000},"page":"162-172","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["Syndrome CMMRD (d\u00e9ficience constitutionnelle des g\u00e8nes MMR)\u00a0: bases g\u00e9n\u00e9tiques et aspects cliniques"],"prefix":"10.1016","volume":"106","author":[{"given":"Bruno","family":"Buecher","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Le Mentec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Doz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franck","family":"Bourdeaut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Gauthier-Villars","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Stoppa-Lyonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chrystelle","family":"Colas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.bulcan.2018.10.008_bib0215","first-page":"294","article-title":"Neurofibromatosis and early onset of cancers in hMLH1-deficient children","volume":"59","author":"Wang","year":"1999","journal-title":"Cancer Res"},{"issue":"2","key":"10.1016\/j.bulcan.2018.10.008_bib0220","first-page":"290","article-title":"Human MLH1\u00a0deficiency predisposes to hematological malignancy and neurofibromatosis type 1","volume":"59","author":"Ricciardone","year":"1999","journal-title":"Cancer Res"},{"issue":"11","key":"10.1016\/j.bulcan.2018.10.008_bib0225","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1136\/jmedgenet-2015-103299","article-title":"Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort","volume":"52","author":"Lavoine","year":"2015","journal-title":"J Med Genet"},{"issue":"6","key":"10.1016\/j.bulcan.2018.10.008_bib0230","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1136\/jmedgenet-2014-102284","article-title":"Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium \u2018care for CMMRD\u2019 (C4CMMRD)","volume":"51","author":"Wimmer","year":"2014","journal-title":"J Med Genet"},{"issue":"5","key":"10.1016\/j.bulcan.2018.10.008_bib0235","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1016\/j.ejca.2013.12.005","article-title":"Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium","volume":"50","author":"Bakry","year":"2014","journal-title":"Eur J Cancer Oxf Engl"},{"key":"10.1016\/j.bulcan.2018.10.008_bib0240","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1007\/BF02616938","article-title":"Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases","volume":"2","author":"Turcot","year":"1959","journal-title":"Dis Colon Rectum"},{"issue":"13","key":"10.1016\/j.bulcan.2018.10.008_bib0245","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1056\/NEJM199503303321302","article-title":"The molecular basis of Turcot's syndrome","volume":"332","author":"Hamilton","year":"1995","journal-title":"N Engl J Med"},{"issue":"3","key":"10.1016\/j.bulcan.2018.10.008_bib0250","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1038\/ng.3202","article-title":"Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers","volume":"47","author":"Shlien","year":"2015","journal-title":"Nat Genet"},{"issue":"3","key":"10.1016\/j.bulcan.2018.10.008_bib0255","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.ejmg.2015.12.014","article-title":"Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome","volume":"59","author":"Ripperger","year":"2016","journal-title":"Eur J Med Genet"},{"issue":"2","key":"10.1016\/j.bulcan.2018.10.008_bib0260","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/ajg.2015.392","article-title":"Gastrointestinal findings in the largest series of patients with hereditary biallelic mismatch repair deficiency syndrome: report from the International Consortium","volume":"111","author":"Aronson","year":"2016","journal-title":"Am J Gastroenterol"},{"issue":"1","key":"10.1016\/j.bulcan.2018.10.008_bib0265","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1007\/s10689-016-9925-1","article-title":"A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency","volume":"16","author":"Wimmer","year":"2017","journal-title":"Fam Cancer"},{"issue":"7","key":"10.1016\/j.bulcan.2018.10.008_bib0270","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1002\/gcc.22061","article-title":"Multiple pilomatricomas with somatic CTNNB1\u00a0mutations in children with constitutive mismatch repair deficiency","volume":"52","author":"Chmara","year":"2013","journal-title":"Genes Chromosomes Cancer"},{"issue":"4","key":"10.1016\/j.bulcan.2018.10.008_bib0275","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1111\/cge.12904","article-title":"Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1","volume":"91","author":"Wimmer","year":"2017","journal-title":"Clin Genet"},{"issue":"4","key":"10.1016\/j.bulcan.2018.10.008_bib0280","first-page":"2023","article-title":"Human MSH6\u00a0deficiency is associated with impaired antibody maturation","volume":"188","author":"Gard\u00e8s","year":"2012","journal-title":"J Immunol Baltim Md"},{"key":"10.1016\/j.bulcan.2018.10.008_bib0285","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.dnarep.2015.11.020","article-title":"Non-canonical actions of mismatch repair","volume":"38","author":"Crouse","year":"2016","journal-title":"DNA Repair"},{"key":"10.1016\/j.bulcan.2018.10.008_bib0290","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.3389\/fimmu.2018.01506","article-title":"No overt clinical immunodeficiency despite immune biological abnormalities in patients with constitutional mismatch repair deficiency","volume":"9","author":"Tesch","year":"2018","journal-title":"Front Immunol"},{"issue":"3","key":"10.1016\/j.bulcan.2018.10.008_bib0295","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1158\/1055-9965.EPI-16-0693","article-title":"Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer","volume":"26","author":"Win","year":"2017","journal-title":"Cancer Epidemiol Biomark Prev"},{"key":"10.1016\/j.bulcan.2018.10.008_bib0300","unstructured":"Oncog\u00e9n\u00e9tique en 2016\/consultations, laboratoires et suivi, INCa, d\u00e9cembre 2017."},{"issue":"6","key":"10.1016\/j.bulcan.2018.10.008_bib0305","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1111\/j.1399-0004.2007.00803.x","article-title":"Constitutive deficiency in DNA mismatch repair","volume":"71","author":"Felton","year":"2007","journal-title":"Clin Genet"},{"issue":"5","key":"10.1016\/j.bulcan.2018.10.008_bib0310","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1136\/jmedgenet-2014-102934","article-title":"A homozygous PMS2\u00a0founder mutation with an attenuated constitutional mismatch repair deficiency phenotype","volume":"52","author":"Li","year":"2015","journal-title":"J Med Genet"},{"issue":"4","key":"10.1016\/j.bulcan.2018.10.008_bib0315","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1053\/j.gastro.2015.06.013","article-title":"Diagnosis of constitutional mismatch repair-deficiency syndrome based on microsatellite instability and lymphocyte tolerance to methylating agents","volume":"149","author":"Bodo","year":"2015","journal-title":"Gastroenterology"},{"key":"10.1016\/j.bulcan.2018.10.008_bib0320","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/978-1-4939-0835-6_20","article-title":"PMS2\u00a0gene mutational analysis: direct cDNA sequencing to circumvent pseudogene interference","volume":"1167","author":"Wimmer","year":"2014","journal-title":"Methods Mol Biol"},{"issue":"9","key":"10.1016\/j.bulcan.2018.10.008_bib0325","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1002\/humu.21540","article-title":"Avoidance of pseudogene interference in the detection of 3\u2032 deletions in PMS2","volume":"32","author":"Vaughn","year":"2011","journal-title":"Hum Mutat"},{"issue":"11","key":"10.1016\/j.bulcan.2018.10.008_bib0330","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1002\/humu.23052","article-title":"Comprehensive mutation analysis of PMS2\u00a0in a large cohort of probands suspected of lynch syndrome or constitutional mismatch repair deficiency syndrome","volume":"37","author":"van der Klift","year":"2016","journal-title":"Hum Mutat"},{"issue":"6","key":"10.1016\/j.bulcan.2018.10.008_bib0335","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1002\/humu.22311","article-title":"Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome","volume":"34","author":"Ingham","year":"2013","journal-title":"Hum Mutat"},{"issue":"11","key":"10.1016\/j.bulcan.2018.10.008_bib0340","doi-asserted-by":"crossref","first-page":"1598","DOI":"10.1038\/ejhg.2016.75","article-title":"PMS2\u00a0inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1","volume":"24","author":"Vogt","year":"2016","journal-title":"Eur J Hum Genet EJHG"},{"issue":"3","key":"10.1016\/j.bulcan.2018.10.008_bib0345","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1002\/path.4957","article-title":"Germline PMS2\u00a0and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours","volume":"243","author":"Andrianova","year":"2017","journal-title":"J Pathol"},{"issue":"5","key":"10.1016\/j.bulcan.2018.10.008_bib0350","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1016\/j.cell.2017.09.048","article-title":"Comprehensive analysis of hypermutation in human cancer","volume":"171","author":"Campbell","year":"2017","journal-title":"Cell"},{"issue":"8","key":"10.1016\/j.bulcan.2018.10.008_bib0355","doi-asserted-by":"crossref","first-page":"1080","DOI":"10.1038\/ejhg.2014.242","article-title":"Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer","volume":"23","author":"Elsayed","year":"2015","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"10.1016\/j.bulcan.2018.10.008_bib0360","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1136\/jmedgenet-2013-102238","article-title":"Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium \u2018Care for CMMR-D\u2019 (C4CMMR-D)","volume":"51","author":"Vasen","year":"2014","journal-title":"J Med Genet"},{"issue":"6","key":"10.1016\/j.bulcan.2018.10.008_bib0365","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1053\/j.gastro.2017.02.011","article-title":"Recommendations on surveillance and management of biallelic mismatch repair deficiency (BMMRD) syndrome: a Consensus statement by the US Multi-Society Task Force on Colorectal Cancer","volume":"152","author":"Durno","year":"2017","journal-title":"Gastroenterology"},{"issue":"11","key":"10.1016\/j.bulcan.2018.10.008_bib0370","doi-asserted-by":"crossref","first-page":"e32","DOI":"10.1158\/1078-0432.CCR-17-0574","article-title":"Clinical management and tumor surveillance recommendations of inherited mismatch repair deficiency in childhood","volume":"23","author":"Tabori","year":"2017","journal-title":"Clin Cancer Res"},{"issue":"1","key":"10.1016\/j.bulcan.2018.10.008_bib0375","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/nrc2292","article-title":"Thiopurines in current medical practice: molecular mechanisms and contributions to therapy-related cancer","volume":"8","author":"Karran","year":"2008","journal-title":"Nat Rev Cancer"},{"issue":"6","key":"10.1016\/j.bulcan.2018.10.008_bib0380","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1002\/pbc.23217","article-title":"High-grade brain tumors in siblings with biallelic MSH6\u00a0mutations","volume":"57","author":"Ilencikova","year":"2011","journal-title":"Pediatr Blood Cancer"},{"issue":"8","key":"10.1016\/j.bulcan.2018.10.008_bib0385","doi-asserted-by":"crossref","first-page":"3987","DOI":"10.1158\/0008-5472.CAN-06-0127","article-title":"A hypermutation phenotype and somatic MSH6\u00a0mutations in recurrent human malignant gliomas after alkylator chemotherapy","volume":"66","author":"Hunter","year":"2006","journal-title":"Cancer Res"},{"key":"10.1016\/j.bulcan.2018.10.008_bib0390","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.canlet.2017.06.018","article-title":"Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome","volume":"403","author":"Westdorp","year":"2017","journal-title":"Cancer Lett"},{"key":"10.1016\/j.bulcan.2018.10.008_bib0395","doi-asserted-by":"crossref","first-page":"2206","DOI":"10.1200\/JCO.2016.66.6552","article-title":"Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency","volume":"34","author":"Bouffet","year":"2016","journal-title":"J Clin Oncol Off"},{"issue":"9809","key":"10.1016\/j.bulcan.2018.10.008_bib0400","doi-asserted-by":"crossref","first-page":"2081","DOI":"10.1016\/S0140-6736(11)61049-0","article-title":"Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2\u00a0randomised controlled trial","volume":"378","author":"Burn","year":"2011","journal-title":"Lancet Lond Engl"},{"key":"10.1016\/j.bulcan.2018.10.008_bib0405","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1038\/s41431-018-0197-0","article-title":"Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)","volume":"26","author":"Leenders","year":"2018","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"10.1016\/j.bulcan.2018.10.008_bib0410","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1007\/s00431-007-0474-3","article-title":"Hypothesis: possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects","volume":"167","author":"Gottschling","year":"2008","journal-title":"Eur J Pediatr"},{"issue":"2","key":"10.1016\/j.bulcan.2018.10.008_bib0415","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1007\/s10689-013-9662-7","article-title":"Towards a vaccine to prevent cancer in Lynch syndrome patients","volume":"12","author":"von Knebel Doeberitz","year":"2013","journal-title":"Fam Cancer"},{"issue":"1","key":"10.1016\/j.bulcan.2018.10.008_bib0210","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1111\/cge.13053","article-title":"Constitutional mismatch repair deficiency in a healthy child: on the spot diagnosis?","volume":"93","author":"Suerink","year":"2018","journal-title":"Clin Genet"}],"container-title":["Bulletin du Cancer"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0007455118303588?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0007455118303588?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,13]],"date-time":"2025-09-13T19:30:28Z","timestamp":1757791828000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0007455118303588"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2]]},"references-count":42,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,2]]}},"alternative-id":["S0007455118303588"],"URL":"https:\/\/doi.org\/10.1016\/j.bulcan.2018.10.008","relation":{},"ISSN":["0007-4551"],"issn-type":[{"value":"0007-4551","type":"print"}],"subject":[],"published":{"date-parts":[[2019,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Syndrome CMMRD (d\u00e9ficience constitutionnelle des g\u00e8nes MMR)\u00a0: bases g\u00e9n\u00e9tiques et aspects cliniques","name":"articletitle","label":"Article Title"},{"value":"Bulletin du Cancer","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bulcan.2018.10.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Soci\u00e9t\u00e9 Fran\u00e7aise du Cancer. Published by Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}