{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T10:17:58Z","timestamp":1774433878255,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,2,12]],"date-time":"2021-02-12T00:00:00Z","timestamp":1613088000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Biallelic pathogenic variants in the\n                    <jats:italic>NTHL1<\/jats:italic>\n                    (Nth like DNA glycosylase 1) gene cause a recently identified autosomal recessive hereditary cancer syndrome predisposing to adenomatous polyposis and colorectal cancer. Half of biallelic carriers also display multiple colonic or extra\u2010colonic primary tumors, mainly breast, endometrium, urothelium, and brain tumors. Published data designate\n                    <jats:italic>NTHL1<\/jats:italic>\n                    as an important contributor to hereditary cancers but also underline the scarcity of available informations. Thanks to the French oncogenetic consortium (Groupe G\u00e9n\u00e9tique et Cancer), we collected\n                    <jats:italic>NTHL1<\/jats:italic>\n                    variants from 7765 patients attending for hereditary colorectal cancer or polyposis (n = 3936) or other hereditary cancers (n = 3829). Here, we describe 10 patients with pathogenic biallelic\n                    <jats:italic>NTHL1<\/jats:italic>\n                    germline variants, that is, the second largest\n                    <jats:italic>NTHL1<\/jats:italic>\n                    series. All carriers were from the \u201ccolorectal cancer or polyposis\u201d series. All nine biallelic carriers who underwent colonoscopy presented adenomatous polyps. For digestive cancers, average age at diagnosis was 56.2 and we reported colorectal, duodenal, caecal, and pancreatic cancers. Extra\u2010digestive malignancies included sarcoma, basal cell carcinoma, breast cancer, urothelial carcinoma, and melanoma. Although tumor risks remain to be precisely defined, these novel data support\n                    <jats:italic>NTHL1<\/jats:italic>\n                    inclusion in diagnostic panel testing. Colonic surveillance should be conducted based on\n                    <jats:italic>MUTYH<\/jats:italic>\n                    recommendations while extra\u2010colonic surveillance has to be defined.\n                  <\/jats:p>","DOI":"10.1111\/cge.13925","type":"journal-article","created":{"date-parts":[[2021,1,17]],"date-time":"2021-01-17T11:28:46Z","timestamp":1610882926000},"page":"662-672","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Further delineation of the\n                    <scp>\n                      <i>NTHL1<\/i>\n                    <\/scp>\n                    associated syndrome: A report from the French Oncogenetic Consortium"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9923-0257","authenticated-orcid":false,"given":"Flavie","family":"Boulouard","sequence":"first","affiliation":[{"name":"Department of Genetics, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital  Rouen France"},{"name":"Comprehensive Cancer Center Fran\u00e7ois Baclesse Laboratory of Cancer Biology and Genetics  Caen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edwige","family":"Kasper","sequence":"additional","affiliation":[{"name":"Department of Genetics, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital  Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Pierre","family":"Buisine","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Lille University Hospital Center, UMR 1277 Inserm\u20109020 CNRS, Lille University  Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gwendoline","family":"Lienard","sequence":"additional","affiliation":[{"name":"Department of Genetics, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital  Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"St\u00e9phanie","family":"Vasseur","sequence":"additional","affiliation":[{"name":"Department of Genetics, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital  Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandrine","family":"Manase","sequence":"additional","affiliation":[{"name":"Department of Genetics, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital  Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Bahuau","sequence":"additional","affiliation":[{"name":"Medical genetics Department Henri Mondor Hospital  Cr\u00e9teil France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuelle","family":"Barouk Simonet","sequence":"additional","affiliation":[{"name":"Cancer Genetics Unit Institut Bergonie  Bordeaux France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginie","family":"Bubien","sequence":"additional","affiliation":[{"name":"Cancer Genetics Unit Institut Bergonie  Bordeaux France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florence","family":"Coulet","sequence":"additional","affiliation":[{"name":"Department of Genetics H\u00f4pitaux Universitaires Piti\u00e9 Salp\u00eatri\u00e8re\u2013Charles Foix  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00e9ronica","family":"Cusin","sequence":"additional","affiliation":[{"name":"Department of Genetics H\u00f4pitaux Universitaires Piti\u00e9 Salp\u00eatri\u00e8re\u2013Charles Foix  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"Dhooge","sequence":"additional","affiliation":[{"name":"Gastroenterology Unit Cochin University Hospital, Paris Descartes University  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Golmard","sequence":"additional","affiliation":[{"name":"Institut Curie, Department of Genetics and Paris Sciences Lettres Research University  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Goussot","sequence":"additional","affiliation":[{"name":"Department of Tumor Biology and Pathology Georges\u2010Fran\u00e7ois Leclerc Center  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadim","family":"Hamzaoui","sequence":"additional","affiliation":[{"name":"Department of Oncogenetics Assistance Publique H\u00f4pitaux de Paris, H\u00f4pital Cochin  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elodie","family":"Lacaze","sequence":"additional","affiliation":[{"name":"Department of Genetics Le Havre General Hospital, Normandy Centre for Genomic and Personalized Medicine  Le Havre France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Lejeune","sequence":"additional","affiliation":[{"name":"Genetic Pathology Biology Department Lille University Hospital Center, Jeanne de Flandre Hospital  Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacques","family":"Mauillon","sequence":"additional","affiliation":[{"name":"Department of Genetics, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital  Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Pascale","family":"Beaumont","sequence":"additional","affiliation":[{"name":"Department of Genetics Rennes University Hospital Center  Rennes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"St\u00e9phane","family":"Pinson","sequence":"additional","affiliation":[{"name":"Genetics Department Hospices Civils de LYON (HCL), University Hospital, East Pathology Center  Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camille","family":"Tlemsani","sequence":"additional","affiliation":[{"name":"Department of Oncogenetics Assistance Publique H\u00f4pitaux de Paris, H\u00f4pital Cochin  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Toulas","sequence":"additional","affiliation":[{"name":"Oncogenetic Laboratory Cancer University Institute Toulouse Oncopole  Toulouse France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Marc","family":"Rey","sequence":"additional","affiliation":[{"name":"Department of Pathology and Oncobiology Montpellier University Hospital  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy","family":"Uhrhammer","sequence":"additional","affiliation":[{"name":"Centre Jean Perrin Oncogenetics and Clermont Auvergne University, INSERM U1240  Clermont\u2010Ferrand France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ga\u00eblle","family":"Bougeard","sequence":"additional","affiliation":[{"name":"Department of Genetics, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital  Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Frebourg","sequence":"additional","affiliation":[{"name":"Department of Genetics, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital  Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claude","family":"Houdayer","sequence":"additional","affiliation":[{"name":"Department of Genetics, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital  Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"St\u00e9phanie","family":"Baert\u2010Desurmont","sequence":"additional","affiliation":[{"name":"Department of Genetics, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital  Rouen France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,2,12]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3287"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23853"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1506878"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cgh.2016.09.153"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2016.09.041"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13444"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccell.2018.12.011"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-018-0107-1"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-45281-1"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-019-0077-3"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aao3130"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0207-2"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31816b5cae"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033878"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg509"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.5985"},{"key":"e_1_2_8_19_1","unstructured":"COSMIC.Signature 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Available at:https:\/\/cancer.sanger.ac.uk\/cancergenome\/assets\/signatures_probabilities.txt"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.CON.0000464177.73440.44"},{"key":"e_1_2_8_21_1","volume-title":"GeneReviews","author":"Kuiper RP","year":"1993"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.104078"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)90840-4"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13925","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13925","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13925","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T10:06:55Z","timestamp":1693562815000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13925"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,12]]},"references-count":22,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,5]]}},"alternative-id":["10.1111\/cge.13925"],"URL":"https:\/\/doi.org\/10.1111\/cge.13925","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13925\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13925\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13925\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13925\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13925\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13925\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13925\/v2\/response1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,12]]},"assertion":[{"value":"2020-11-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}