{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T21:13:31Z","timestamp":1788815611250,"version":"build-2803163510"},"reference-count":40,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T00:00:00Z","timestamp":1751414400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T00:00:00Z","timestamp":1751414400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["SFRH\/BD\/138670\/2018"],"award-info":[{"award-number":["SFRH\/BD\/138670\/2018"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011733","name":"Liga Portuguesa Contra o Cancro","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011733","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011776","name":"Instituto Portugu\u00eas de Oncologia do Porto","doi-asserted-by":"publisher","award":["CI\u2010IPOP\u201029\u20102023"],"award-info":[{"award-number":["CI\u2010IPOP\u201029\u20102023"]}],"id":[{"id":"10.13039\/501100011776","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    DNA glycosylases play a crucial role in DNA repair mediated by the base excision repair (BER) pathway, and alterations in these enzymes have been associated with hereditary cancer predisposition. Recently, germline biallelic loss\u2010of\u2010function variants in\n                    <jats:italic>MBD4<\/jats:italic>\n                    were shown to be responsible for a novel autosomal recessive multi\u2010tumor predisposition syndrome, provisionally denominated as\n                    <jats:italic>MBD4<\/jats:italic>\n                    \u2010associated neoplasia syndrome and characterized by the association of adenomatous polyposis, colorectal cancer, and acute myeloid leukemia (AML). Here, we studied the\n                    <jats:italic>MBD4<\/jats:italic>\n                    gene in five individuals from four families affected by adenomatous polyposis and AML, who had been referred for genetic counselling at a single institution over a period of approximately 20\u2009years. All patients with this phenotype presented homozygous deleterious germline variants in\n                    <jats:italic>MBD4<\/jats:italic>\n                    , of which one is a founder variant recurrent in three of the families, and another variant has not been previously described in the literature. Our work allowed a molecular diagnosis for these families and significantly contributes to expanding the knowledge about this emerging syndrome caused by\n                    <jats:italic>MBD4<\/jats:italic>\n                    constitutional deficiency.\n                  <\/jats:p>","DOI":"10.1111\/cge.70014","type":"journal-article","created":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T01:30:53Z","timestamp":1751506253000},"page":"50-59","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A Novel Deleterious Variant and a Founder Effect in Four New Families of\n                    <i>MBD4<\/i>\n                    \u2010Associated Neoplasia Syndrome Recruited Over a Period of 20\u2009Years"],"prefix":"10.1111","volume":"109","author":[{"given":"In\u00eas","family":"Querido","sequence":"first","affiliation":[{"name":"Cancer Genetics Group IPO Porto Research Center (CI\u2010IPOP)\/RISE@CI\u2010IPOP (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)\/Porto Comprehensive Cancer Center  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Pinto","sequence":"additional","affiliation":[{"name":"Cancer Genetics Group IPO Porto Research Center (CI\u2010IPOP)\/RISE@CI\u2010IPOP (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)\/Porto Comprehensive Cancer Center  Porto Portugal"},{"name":"Department of Laboratory Genetics Portuguese Oncology Institute of Porto (IPO Porto)\/Porto Comprehensive Cancer Center  Porto Portugal"},{"name":"Department of Pathological, Cytological and Thanatological Anatomy School of Health, Polytechnic Institute of Porto  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patr\u00edcia","family":"Arinto","sequence":"additional","affiliation":[{"name":"Cancer Genetics Group IPO Porto Research Center (CI\u2010IPOP)\/RISE@CI\u2010IPOP (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)\/Porto Comprehensive Cancer Center  Porto Portugal"},{"name":"Department of Laboratory Genetics Portuguese Oncology Institute of Porto (IPO Porto)\/Porto Comprehensive Cancer Center  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreia","family":"Brand\u00e3o","sequence":"additional","affiliation":[{"name":"Cancer Genetics Group IPO Porto Research Center (CI\u2010IPOP)\/RISE@CI\u2010IPOP (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)\/Porto Comprehensive Cancer Center  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catarina","family":"Santos","sequence":"additional","affiliation":[{"name":"Cancer Genetics Group IPO Porto Research Center (CI\u2010IPOP)\/RISE@CI\u2010IPOP (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)\/Porto Comprehensive Cancer Center  Porto Portugal"},{"name":"Department of Laboratory Genetics Portuguese Oncology Institute of Porto (IPO Porto)\/Porto Comprehensive Cancer Center  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Pinheiro","sequence":"additional","affiliation":[{"name":"Cancer Genetics Group IPO Porto Research Center (CI\u2010IPOP)\/RISE@CI\u2010IPOP (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)\/Porto Comprehensive Cancer Center  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana","family":"Guerra","sequence":"additional","affiliation":[{"name":"Cancer Genetics Group IPO Porto Research Center (CI\u2010IPOP)\/RISE@CI\u2010IPOP (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)\/Porto Comprehensive Cancer Center  Porto Portugal"},{"name":"Department of Laboratory Genetics Portuguese Oncology Institute of Porto (IPO Porto)\/Porto Comprehensive Cancer Center  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o","family":"Silva","sequence":"additional","affiliation":[{"name":"Cancer Genetics Group IPO Porto Research Center (CI\u2010IPOP)\/RISE@CI\u2010IPOP (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)\/Porto Comprehensive Cancer Center  Porto Portugal"},{"name":"Department of Medical Genetics Portuguese Oncology Institute of Porto (IPO Porto)\/Porto Comprehensive Cancer Center  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Peixoto","sequence":"additional","affiliation":[{"name":"Cancer Genetics Group IPO Porto Research Center (CI\u2010IPOP)\/RISE@CI\u2010IPOP (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)\/Porto Comprehensive Cancer Center  Porto Portugal"},{"name":"Department of Laboratory Genetics Portuguese Oncology Institute of Porto (IPO Porto)\/Porto Comprehensive Cancer Center  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel R.","family":"Teixeira","sequence":"additional","affiliation":[{"name":"Cancer Genetics Group IPO Porto Research Center (CI\u2010IPOP)\/RISE@CI\u2010IPOP (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)\/Porto Comprehensive Cancer Center  Porto Portugal"},{"name":"Department of Laboratory Genetics Portuguese Oncology Institute of Porto (IPO Porto)\/Porto Comprehensive Cancer Center  Porto Portugal"},{"name":"Department of Pathology and Molecular Immunology School of Medicine and Biomedical Sciences (ICBAS), University of Porto  Porto Portugal"},{"name":"European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS)  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,2]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrfmmm.2012.11.001"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/em.22087"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2014.03.030"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.1064"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00595-013-0592-7"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24032137"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng828"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa025283"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mam.2019.03.001"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3287"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2018-05-852566"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.03.018"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.18178"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2021-154221"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2017.05.001"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13742-015-0047-8"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/521987"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.113.150029"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.molbev.a026036"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/2041-210X.12410"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkac240"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-04322-5"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2015.04.011"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.5740"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0431215100"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.032227"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.11.4388-4396.2005"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.4161\/epi.27695"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1073354"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/dote\/dox081"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djaa047"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-010-1036-3"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers12113254"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22759"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41416-022-02125-6"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00251-019-01108-x"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-21-0557"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-21-0327"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.1159\/000530965"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10637-019-00842-z"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70014","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70014","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70014","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T09:02:47Z","timestamp":1779786167000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70014"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,2]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1111\/cge.70014"],"URL":"https:\/\/doi.org\/10.1111\/cge.70014","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.70014\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70014\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70014\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70014\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70014\/v2\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,2]]},"assertion":[{"value":"2025-04-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}