{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T08:32:52Z","timestamp":1777365172139,"version":"3.51.4"},"reference-count":28,"publisher":"Federa\u00e7\u00e3o das Associa\u00e7\u00f5es de Ginecologia e Obstetr\u00edcia","issue":"02","license":[{"start":{"date-parts":[[2023,3,28]],"date-time":"2023-03-28T00:00:00Z","timestamp":1679961600000},"content-version":"vor","delay-in-days":55,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev Bras Ginecol Obstet"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Objective\u2003The present study evaluated the profile of germline mutations present in patients who underwent genetic counseling for risk assessment for breast cancer (BC), ovarian cancer (OC), and endometrial cancer (EC) with a possible hereditary pattern.<\/jats:p><jats:p>\n          Methods\u2003Medical records of 382 patients who underwent genetic counseling after signing an informed consent form were analyzed. A total of 55.76% of patients (213\/382) were symptomatic (personal history of cancer), and 44.24% (169\/382) were asymptomatic (absence of the disease). The variables analyzed were age, sex, place of birth, personal or family history of BC, OC, EC, as well as other types of cancer associated with hereditary syndromes. The Human Genome Variation Society (HGVS) nomenclature guidelines were used to name the variants, and their biological significance was determined by comparing 11 databases.<\/jats:p><jats:p>\n          Results\u2003We identified 53 distinct mutations: 29 pathogenic variants, 13 variants of undetermined significance (VUS), and 11 benign. The most frequent mutations were BRCA1 c.470_471delCT, BRCA1 c.4675\u2009+\u20091G\u2009&gt;\u2009T, and BRCA2 c.2T&gt; G. Furthermore, 21 variants appear to have been described for the first time in Brazil. In addition to BRCA1\/2 mutations, variants in other genes related to hereditary syndromes that predispose to gynecological cancers were found.<\/jats:p><jats:p>\n          Conclusion\u2003This study allowed a deeper understanding of the main mutations identified in families in the state of Minas Gerais and demonstrates the need to assess the family history of non-gynecological cancer for risk assessment of BC, OC, and EC. Moreover, it is an effort that contributes to population studies to evaluate the cancer risk mutation profile in Brazil.<\/jats:p>","DOI":"10.1055\/s-0042-1757956","type":"journal-article","created":{"date-parts":[[2023,3,28]],"date-time":"2023-03-28T22:32:32Z","timestamp":1680042752000},"page":"074-081","source":"Crossref","is-referenced-by-count":6,"title":["Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer"],"prefix":"10.61622","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7376-5950","authenticated-orcid":false,"given":"Camila Martins de","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6181-9410","authenticated-orcid":false,"given":"Let\u00edcia da Concei\u00e7\u00e3o","family":"Braga","sequence":"additional","affiliation":[{"name":"OncoTag Desenvolvimento de Produtos e Servi\u00e7os para Sa\u00fade Humana, Belo Horizonte, MG, Brazil"},{"name":"Translational Research Laboratory in Oncology, Instituto M\u00e1rio Penna-Ensino, Pesquisa e Inova\u00e7\u00e3o, Belo Horizonte, MG, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3875-3425","authenticated-orcid":false,"given":"Luciana Maria","family":"Silva","sequence":"additional","affiliation":[{"name":"OncoTag Desenvolvimento de Produtos e Servi\u00e7os para Sa\u00fade Humana, Belo Horizonte, MG, Brazil"},{"name":"Cell Biology Service, Diretoria de Pesquisa e Desenvolvimento, Funda\u00e7\u00e3o Ezequiel Dias, Belo Horizonte, MG, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2651-0995","authenticated-orcid":false,"given":"Anisse Marques","family":"Chami","sequence":"additional","affiliation":[{"name":"School of Medicine, Campus Botucatu, Universidade Estadual Paulista, Belo Horizonte, MG, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8486-7861","authenticated-orcid":false,"given":"Agnaldo Lopes da","family":"Silva Filho","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil"},{"name":"School of Medicine, Campus Botucatu, Universidade Estadual Paulista, Belo Horizonte, MG, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"47794","published-online":{"date-parts":[[2023,3,28]]},"reference":[{"issue":"03","key":"ref1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.3322\/caac.21660","article-title":"Global Cancer Statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries","volume":"71","author":"H Sung","year":"2021","journal-title":"CA Cancer J Clin"},{"issue":"03","key":"ref3","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1007\/s10549-016-4003-9","article-title":"Time to incorporate germline multigene panel testing into breast and ovarian cancer patient care","volume":"160","author":"R Graffeo","year":"2016","journal-title":"Breast Cancer Res Treat"},{"issue":"11","key":"ref4","doi-asserted-by":"publisher","first-page":"1222","DOI":"10.1200\/JCO.19.02960","article-title":"Germline and somatic tumor testing in epithelial ovarian cancer: ASCO guideline","volume":"38","author":"P A Konstantinopoulos","year":"2020","journal-title":"J Clin Oncol"},{"issue":"05","key":"ref5","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1016\/j.ajog.2017.04.011","article-title":"Current and future role of genetic screening in gynecologic malignancies","volume":"217","author":"K L Ring","year":"2017","journal-title":"Am J Obstet Gynecol"},{"issue":"03","key":"ref6","doi-asserted-by":"publisher","first-page":"1125","DOI":"10.1007\/s10549-012-1993-9","article-title":"Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort","volume":"133","author":"S Masciari","year":"2012","journal-title":"Breast Cancer Res Treat"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"747318","DOI":"10.1155\/2013\/74731","article-title":"Hereditary breast cancer: the era of new susceptibility genes","volume":"2013","author":"P Apostolou","year":"2013","journal-title":"BioMed Res Int"},{"issue":"01","key":"ref8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10549-015-3665-z","article-title":"Breast cancer risk and clinical implications for germline PTEN mutation carriers","volume":"165","author":"J Ngeow","year":"2017","journal-title":"Breast Cancer Res Treat"},{"issue":"09","key":"ref9","doi-asserted-by":"publisher","first-page":"1190","DOI":"10.1001\/jamaoncol.2017.0424","article-title":"Associations between cancer predisposition testing panel genes and breast cancer","volume":"3","author":"F J Couch","year":"2017","journal-title":"JAMA Oncol"},{"issue":"02","key":"ref10","doi-asserted-by":"publisher","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":"L M Randall","year":"2017","journal-title":"Gynecol Oncol"},{"issue":"04","key":"ref11","doi-asserted-by":"publisher","first-page":"380","DOI":"10.6004\/jnccn.2020.0017","article-title":"NCCN guidelines insights: genetic\/familial high-risk assessment: breast, ovarian, and pancreatic, version 1.2020","volume":"18","author":"M B Daly","year":"2020","journal-title":"J Natl Compr Canc Netw"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/j.cancergen.2019.06.005","article-title":"Inherited cancer syndromes in 220 Italian ovarian cancer patients","volume":"237","author":"I Carnevali","year":"2019","journal-title":"Cancer Genet"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1200\/JGO.19.00170","article-title":"Recommendations for advancing the diagnosis and management of hereditary breast and ovarian cancer in Brazil","volume":"6","author":"M I Achatz","year":"2020","journal-title":"JCO Glob Oncol"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1016\/j.breast.2016.11.021","article-title":"BRCA mutation genetic testing implications in the United States","volume":"31","author":"S Bayraktar","year":"2017","journal-title":"Breast"},{"issue":"05","key":"ref15","doi-asserted-by":"publisher","first-page":"593","DOI":"10.1002\/humu.23406","article-title":"Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations","volume":"39","author":"T R Rebbeck","year":"2018","journal-title":"Hum Mutat"},{"issue":"01","key":"ref16","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1007\/s10549-014-3218-x","article-title":"Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry","volume":"149","author":"E Rosenthal","year":"2015","journal-title":"Breast Cancer Res Treat"},{"issue":"01","key":"ref17","doi-asserted-by":"publisher","first-page":"9188","DOI":"10.1038\/s41598-018-27315-2","article-title":"The germline mutational landscape of BRCA1 and BRCA2 in Brazil","volume":"8","author":"E I Palmero","year":"2018","journal-title":"Sci Rep"},{"issue":"09","key":"ref18","doi-asserted-by":"publisher","first-page":"e43994","DOI":"10.1371\/journal.pone.0043994","article-title":"Identification of BRCA1\/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis","volume":"7","author":"A Kwong","year":"2012","journal-title":"PLoS One"},{"issue":"04","key":"ref19","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1038\/s10038-017-0355-1","article-title":"Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan","volume":"63","author":"M Arai","year":"2018","journal-title":"J Hum Genet"},{"issue":"03","key":"ref20","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1007\/s13167-010-0037-y","article-title":"Founder BRCA1\/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control","volume":"1","author":"R Janavi\u010dius","year":"2010","journal-title":"EPMA J"},{"issue":"49","key":"ref21","doi-asserted-by":"publisher","first-page":"80465","DOI":"10.18632\/oncotarget.12610","article-title":"Prevalence of BRCA1\/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry","volume":"7","author":"G C Fernandes","year":"2016","journal-title":"Oncotarget"},{"key":"ref22","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/j.cancergen.2018.09.001","article-title":"Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast","volume":"228-229","author":"P S Felicio","year":"2018","journal-title":"Cancer Genet"},{"issue":"12","key":"ref23","doi-asserted-by":"publisher","first-page":"e0209934","DOI":"10.1371\/journal.pone.0209934","article-title":"TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients","volume":"13","author":"E C Hahn","year":"2018","journal-title":"PLoS One"},{"issue":"02","key":"ref24","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1002\/humu.21151","article-title":"Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect","volume":"31","author":"S Garritano","year":"2010","journal-title":"Hum Mutat"},{"key":"ref25","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1016\/j.cancergen.2015.11.003","article-title":"The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil","volume":"209","author":"H Schayek","year":"2016","journal-title":"Cancer Genet"},{"issue":"08","key":"ref26","doi-asserted-by":"publisher","first-page":"1989","DOI":"10.1002\/cncr.26506","article-title":"MutYH mutation carriers have increased breast cancer risk","volume":"118","author":"G Rennert","year":"2012","journal-title":"Cancer"},{"issue":"09","key":"ref27","doi-asserted-by":"publisher","first-page":"2256","DOI":"10.1002\/ijc.25870","article-title":"Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer","volume":"129","author":"A K Win","year":"2011","journal-title":"Int J Cancer"},{"key":"ref28","doi-asserted-by":"publisher","first-page":"936","DOI":"10.1186\/s12885-015-1934-1","article-title":"Understanding of BRCA VUS genetic results by breast cancer specialists","volume":"15","author":"B K Eccles","year":"2015","journal-title":"BMC Cancer"},{"issue":"04","key":"ref29","doi-asserted-by":"publisher","first-page":"e60","DOI":"10.3802\/jgo.2019.30.e60","article-title":"The influence of BRCA variants of unknown significance on cancer risk management decision-making","volume":"30","author":"J Y Chern","year":"2019","journal-title":"J Gynecol Oncol"}],"container-title":["Revista Brasileira de Ginecologia e Obstetr\u00edcia \/ RBGO Gynecology and Obstetrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journalrbgo.org\/article\/germline-mutations-landscape-in-a-cohort-of-the-state-of-minas-gerais-brazil-in-patients-who-underwent-genetic-counseling-for-gynecological-and-breast-cancer\/","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0042-1757956.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T20:56:24Z","timestamp":1721336184000},"score":1,"resource":{"primary":{"URL":"https:\/\/journalrbgo.org\/article\/germline-mutations-landscape-in-a-cohort-of-the-state-of-minas-gerais-brazil-in-patients-who-underwent-genetic-counseling-for-gynecological-and-breast-cancer\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2]]},"references-count":28,"journal-issue":{"issue":"02","published-online":{"date-parts":[[2023,3,28]]},"published-print":{"date-parts":[[2023,2]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0042-1757956","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0100-7203","1806-9339"],"issn-type":[{"value":"0100-7203","type":"print"},{"value":"1806-9339","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2]]}}}