{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T22:20:16Z","timestamp":1781907616968,"version":"3.54.5"},"reference-count":44,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2017\/04283-8"],"award-info":[{"award-number":["2017\/04283-8"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["423007\/2016-5"],"award-info":[{"award-number":["423007\/2016-5"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","gynecologiconcology-online.net","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gynecologic Oncology"],"published-print":{"date-parts":[[2020,10]]},"DOI":"10.1016\/j.ygyno.2020.07.013","type":"journal-article","created":{"date-parts":[[2020,7,18]],"date-time":"2020-07-18T16:32:49Z","timestamp":1595089969000},"page":"229-238","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Lynch syndrome identification in a Brazilian cohort of endometrial cancer screened by a universal approach"],"prefix":"10.1016","volume":"159","author":[{"given":"Reginaldo Cruz Alves","family":"Rosa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica Oliveira","family":"Santis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena Alves","family":"Teixeira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Greice Andreotti","family":"Molfetta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer Thalita Targino","family":"dos Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa dos Santos","family":"Ribeiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Chahud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Ribeiro-Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari\u00e2ngela Ottoboni","family":"Brunaldi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilson Ara\u00fajo","family":"Silva Jr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor Evangelista de Faria","family":"Ferraz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.ygyno.2020.07.013_bb0005","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.ygyno.2017.06.002","article-title":"Multi-disciplinary summit on genetics services for women with gynecologic cancers: a Society of Gynecologic Oncology White Paper","volume":"146","author":"Randall","year":"2017","journal-title":"Gynecol. Oncol."},{"issue":"2","key":"10.1016\/j.ygyno.2020.07.013_bb0010","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.ygyno.2017.08.016","article-title":"Clinical characteristics of Lynch-like cases collaterally classified by Lynch syndrome identification strategy using universal screening in endometrial cancer","volume":"147","author":"Takahashi","year":"2017","journal-title":"Gynecol. Oncol."},{"issue":"3","key":"10.1016\/j.ygyno.2020.07.013_bb0015","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1038\/nrc3878","article-title":"Milestones of Lynch syndrome: 1895\u20132015","volume":"15","author":"Lynch","year":"2015","journal-title":"Nat. Rev. Cancer"},{"issue":"1","key":"10.1016\/j.ygyno.2020.07.013_bb0020","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/s41436-019-0596-9","article-title":"Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the prospective Lynch syndrome database","volume":"22","author":"Dominguez-Valentin","year":"2020","journal-title":"Genet Med."},{"key":"10.1016\/j.ygyno.2020.07.013_bb0025","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.mrrev.2017.07.001","article-title":"DNA mismatch repair and its many roles in eukaryotic cells","volume":"773","author":"Liu","year":"2017","journal-title":"Mutat. Res."},{"issue":"2","key":"10.1016\/j.ygyno.2020.07.013_bb0030","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1148\/rg.2018170075","article-title":"Lynch syndrome: genomics update and imaging review","volume":"38","author":"Cox","year":"2018","journal-title":"Radiographics"},{"issue":"9","key":"10.1016\/j.ygyno.2020.07.013_bb0035","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1007\/s10147-019-01494-y","article-title":"Genetic and genomic basis of the mismatch repair system involved in Lynch syndrome","volume":"24","author":"Tamura","year":"2019","journal-title":"Int. J. Clin. Oncol."},{"issue":"15","key":"10.1016\/j.ygyno.2020.07.013_bb0040","doi-asserted-by":"crossref","first-page":"3145","DOI":"10.1002\/cncr.31534","article-title":"Universal screening of both endometrial and colon cancers increases the detection of Lynch syndrome","volume":"124","author":"Adar","year":"2018","journal-title":"Cancer"},{"issue":"10","key":"10.1016\/j.ygyno.2020.07.013_bb0045","doi-asserted-by":"crossref","first-page":"2390","DOI":"10.1038\/s41436-019-0489-y","article-title":"The Manchester International Consensus Group Recommendations for the Management of Gynecological Cancers in Lynch Syndrome","volume":"21","author":"Crosbie","year":"2019","journal-title":"Genet Med."},{"issue":"9","key":"10.1016\/j.ygyno.2020.07.013_bb0050","doi-asserted-by":"crossref","first-page":"2161","DOI":"10.1002\/ijc.32044","article-title":"Universal screening for Lynch syndrome in a large consecutive cohort of Chinese colorectal cancer patients: high prevalence and unique molecular features","volume":"144","author":"Jiang","year":"2019","journal-title":"Int. J. Cancer"},{"issue":"9","key":"10.1016\/j.ygyno.2020.07.013_bb0055","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1007\/s10147-018-1282-7","article-title":"Current clinical topics of Lynch syndrome","volume":"24","author":"Tanakaya","year":"2019","journal-title":"Int. J. Clin. Oncol."},{"issue":"11","key":"10.1016\/j.ygyno.2020.07.013_bb0060","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.2174\/13816128113199990538","article-title":"Utility of MLH1 methylation analysis in the clinical evaluation of Lynch syndrome in women with endometrial cancer","volume":"20","author":"Bruegl","year":"2014","journal-title":"Curr. Pharm. Des."},{"issue":"31","key":"10.1016\/j.ygyno.2020.07.013_bb0065","doi-asserted-by":"crossref","first-page":"9253","DOI":"10.3748\/wjg.v21.i31.9253","article-title":"Lynch syndrome and Lynch syndrome mimics: the growing complex landscape of hereditary colon cancer","volume":"21","author":"Carethers","year":"2015","journal-title":"World J. Gastroenterol."},{"key":"10.1016\/j.ygyno.2020.07.013_bb0070","first-page":"183","article-title":"Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)","volume":"7","author":"Buchanan","year":"2014","journal-title":"Appl. Clin. Genet."},{"key":"10.1016\/j.ygyno.2020.07.013_bb0075","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.ejca.2019.07.017","article-title":"A snapshot of current genetic testing practice in Lynch syndrome: the results of a representative survey of 33 Latin American existing centres\/registries","volume":"119","author":"Della Valle","year":"2019","journal-title":"Eur. J. Cancer"},{"issue":"5","key":"10.1016\/j.ygyno.2020.07.013_bb0080","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1002\/cam4.1316","article-title":"Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome","volume":"7","author":"Schneider","year":"2018","journal-title":"Cancer Med."},{"issue":"2","key":"10.1016\/j.ygyno.2020.07.013_bb0085","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.ijgo.2009.02.012","article-title":"Revised FIGO staging for carcinoma of the vulva, cervix, and endometrium","volume":"105","author":"Pecorelli","year":"2009","journal-title":"Int. J. Gynaecol. Obstet."},{"key":"10.1016\/j.ygyno.2020.07.013_bb0090","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1155\/2004\/159347","article-title":"Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis","volume":"20","author":"Buhard","year":"2004","journal-title":"Dis. Markers"},{"issue":"3","key":"10.1016\/j.ygyno.2020.07.013_bb0095","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1016\/S0002-9440(10)63878-3","article-title":"Frequent CpG island methylation in serrated adenomas of the colorectum","volume":"162","author":"Park","year":"2003","journal-title":"Am. J. Pathol."},{"issue":"1110","key":"10.1016\/j.ygyno.2020.07.013_bb0100","first-page":"11.10.1","article-title":"From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline","volume":"11","author":"Van der Auwera","year":"2013","journal-title":"Curr. Protoc. Bioinformatics"},{"issue":"16","key":"10.1016\/j.ygyno.2020.07.013_bb0105","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"issue":"7","key":"10.1016\/j.ygyno.2020.07.013_bb0110","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1038\/gim.2015.156","article-title":"VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data","volume":"18","author":"Pugh","year":"2016","journal-title":"Genet Med."},{"issue":"6","key":"10.1016\/j.ygyno.2020.07.013_bb0115","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/humu.22981","article-title":"HGVS recommendations for the description of sequence variants: 2016 update","volume":"37","author":"den Dunnen","year":"2016","journal-title":"Hum. Mutat."},{"issue":"5","key":"10.1016\/j.ygyno.2020.07.013_bb0120","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med."},{"issue":"11","key":"10.1016\/j.ygyno.2020.07.013_bb0125","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: the human genomic variant search engine","volume":"35","author":"Kopanos","year":"2019","journal-title":"Bioinformatics"},{"issue":"5","key":"10.1016\/j.ygyno.2020.07.013_bb0130","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1002\/humu.20318","article-title":"Long-range PCR facilitates the identification of PMS2-specific mutations","volume":"27","author":"Clendenning","year":"2006","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.ygyno.2020.07.013_bb0135","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/s12282-018-00938-z","article-title":"Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil","volume":"26","author":"Cipriano","year":"2018","journal-title":"Breast Cancer"},{"issue":"20","key":"10.1016\/j.ygyno.2020.07.013_bb0140","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1146\/annurev-genom-083118-015406","article-title":"Lynch syndrome: from screening to diagnosis to treatment in the era of modern molecular oncology","volume":"31","author":"Cohen","year":"2019","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"issue":"10","key":"10.1016\/j.ygyno.2020.07.013_bb0145","doi-asserted-by":"crossref","first-page":"2167","DOI":"10.1038\/s41436-019-0536-8","article-title":"The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis","volume":"21","author":"Ryan","year":"2019","journal-title":"Genet Med."},{"issue":"2","key":"10.1016\/j.ygyno.2020.07.013_bb0150","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/s10689-009-9297-x","article-title":"Clinical and histomolecular endometrial tumor characterization of patients at-risk for Lynch syndrome in South of Brazil","volume":"9","author":"Cossio","year":"2010","journal-title":"Familial Cancer"},{"issue":"6","key":"10.1016\/j.ygyno.2020.07.013_bb0155","doi-asserted-by":"crossref","first-page":"2909","DOI":"10.3892\/or.2013.2781","article-title":"Molecular and clinical characteristics of MSH6 germline variants detected in colorectal cancer patients","volume":"30","author":"Terui","year":"2013","journal-title":"Oncol. Rep."},{"issue":"3","key":"10.1016\/j.ygyno.2020.07.013_bb0160","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1093\/jnci\/djp473","article-title":"Risks of Lynch syndrome cancers for MSH6 mutation carriers","volume":"102","author":"Baglietto","year":"2010","journal-title":"J. Natl. Cancer Inst."},{"issue":"5","key":"10.1016\/j.ygyno.2020.07.013_bb0165","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1006765","article-title":"Suspected Lynch syndrome associated MSH6 variants: a functional assay to determine their pathogenicity","volume":"13","author":"Houlleberghs","year":"2017","journal-title":"PLoS Genet."},{"issue":"3","key":"10.1016\/j.ygyno.2020.07.013_bb0170","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1007\/s10689-016-9882-8","article-title":"Update on Lynch syndrome genomics","volume":"15","author":"Peltom\u00e4ki","year":"2016","journal-title":"Familial Cancer"},{"issue":"11","key":"10.1016\/j.ygyno.2020.07.013_bb0175","doi-asserted-by":"crossref","first-page":"2044","DOI":"10.1002\/humu.23848","article-title":"Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells","volume":"40","author":"Rath","year":"2019","journal-title":"Hum. Mutat."},{"issue":"2","key":"10.1016\/j.ygyno.2020.07.013_bb0180","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1038\/s41436-018-0052-2","article-title":"The functional impact of variants of uncertain significance in BRCA2","author":"Mesman","year":"2019","journal-title":"Genet Med."},{"issue":"22","key":"10.1016\/j.ygyno.2020.07.013_bb0185","doi-asserted-by":"crossref","first-page":"5402","DOI":"10.1158\/1078-0432.CCR-10-1491","article-title":"MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer","volume":"16","author":"Gir\u00e1ldez","year":"2010","journal-title":"Clin. Cancer Res."},{"issue":"4","key":"10.1016\/j.ygyno.2020.07.013_bb0190","doi-asserted-by":"crossref","first-page":"301","DOI":"10.2353\/jmoldx.2008.080062","article-title":"Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for Hereditary Nonpolyposis Colorectal Cancer Syndrome: part II. The utility of microsatellite instability testing","volume":"10","author":"Zhang","year":"2008","journal-title":"J Mol Diagn."},{"issue":"8","key":"10.1016\/j.ygyno.2020.07.013_bb0195","doi-asserted-by":"crossref","first-page":"1928","DOI":"10.1002\/ijc.29948","article-title":"Contribution of rare germline copy number variations and common susceptibility loci in Lynch syndrome patients negative for mutations in the mismatch repair genes","volume":"138","author":"Villacis","year":"2016","journal-title":"Int. J. Cancer"},{"key":"10.1016\/j.ygyno.2020.07.013_bb0200","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1097\/GIM.0b013e31821dd525","article-title":"A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families","volume":"13","author":"Pinheiro","year":"2011","journal-title":"Genet. Med."},{"issue":"60","key":"10.1016\/j.ygyno.2020.07.013_bb0205","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1053\/j.gastro.2014.08.041","article-title":"Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations","volume":"147","author":"Haraldsdottir","year":"2014","journal-title":"Gastroenterology"},{"issue":"2","key":"10.1016\/j.ygyno.2020.07.013_bb0210","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1590\/1678-4685-gmb-2014-0373","article-title":"The Brazilian Hereditary Cancer Network: historical aspects and challenges for clinical cancer genetics in the public health care system in Brazil","volume":"39","author":"Ashton-Prolla","year":"2016","journal-title":"Genet. Mol. Biol."},{"issue":"3","key":"10.1016\/j.ygyno.2020.07.013_bb0215","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/j.ygyno.2016.10.008","article-title":"Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70 years of age","volume":"143","author":"Goverde","year":"2016","journal-title":"Gynecol. Oncol."},{"issue":"6","key":"10.1016\/j.ygyno.2020.07.013_bb0220","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1097\/PAS.0b013e318197a046","article-title":"Selection of endometrial carcinomas for DNA mismatch repair protein immunohistochemistry using patient age and tumor morphology enhances detection of mismatch repair abnormalities","volume":"33","author":"Garg","year":"2009","journal-title":"Am. J. Surg. Pathol."}],"container-title":["Gynecologic Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S009082582032388X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S009082582032388X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T03:53:36Z","timestamp":1758772416000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S009082582032388X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10]]},"references-count":44,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["S009082582032388X"],"URL":"https:\/\/doi.org\/10.1016\/j.ygyno.2020.07.013","relation":{},"ISSN":["0090-8258"],"issn-type":[{"value":"0090-8258","type":"print"}],"subject":[],"published":{"date-parts":[[2020,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Lynch syndrome identification in a Brazilian cohort of endometrial cancer screened by a universal approach","name":"articletitle","label":"Article Title"},{"value":"Gynecologic Oncology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ygyno.2020.07.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}