Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer

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Autor(es): dc.contributorUniversidade Federal de Minas Gerais (UFMG)-
Autor(es): dc.contributorOncoTag Desenvolvimento de Produtos e Serviços Para Saúde Humana-
Autor(es): dc.contributorPesquisa e Inovação-
Autor(es): dc.contributorFundação Ezequiel Dias-
Autor(es): dc.contributorUniversidade Estadual Paulista (UNESP)-
Autor(es): dc.creatorCarvalho, Camila Martins De-
Autor(es): dc.creatorBraga, Letícia Da Conceição-
Autor(es): dc.creatorSilva, Luciana Maria-
Autor(es): dc.creatorChami, Anisse Marques-
Autor(es): dc.creatorSilva Filho, Agnaldo Lopes Da-
Data de aceite: dc.date.accessioned2025-08-21T16:24:06Z-
Data de disponibilização: dc.date.available2025-08-21T16:24:06Z-
Data de envio: dc.date.issued2023-07-29-
Data de envio: dc.date.issued2023-07-29-
Data de envio: dc.date.issued2022-04-26-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1055/s-0042-1757956-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/247063-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/247063-
Descrição: dc.descriptionObjective The 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. Methods Medical 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. Results We 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 + 1G > T, and BRCA2 c.2T> 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. Conclusion This 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.-
Descrição: dc.descriptionDepartment of Obstetrics and Gynecology Universidade Federal de Minas Gerais, MG-
Descrição: dc.descriptionOncoTag Desenvolvimento de Produtos e Serviços Para Saúde Humana, MG-
Descrição: dc.descriptionTranslational Research Laboratory in Oncology Instituto Mário Penna-Ensino Pesquisa e Inovação, MG-
Descrição: dc.descriptionCell Biology Service Diretoria de Pesquisa e Desenvolvimento Fundação Ezequiel Dias, MG-
Descrição: dc.descriptionSchool of Medicine Campus Botucatu Universidade Estadual Paulista, MG-
Descrição: dc.descriptionSchool of Medicine Campus Botucatu Universidade Estadual Paulista, MG-
Formato: dc.format74-81-
Idioma: dc.languageen-
Relação: dc.relationRevista Brasileira de Ginecologia e Obstetricia-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectgenetic counseling-
Palavras-chave: dc.subjectgermline variants-
Palavras-chave: dc.subjectgynecological cancer risk-
Palavras-chave: dc.subjecthereditary syndromes-
Título: dc.titleGermline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer-
Título: dc.titleCenário de mutações germinativas em uma coorte do estado de Minas Gerais, Brasil, em pacientes submetidas ao aconselhamento genético para câncer ginecológico e de mama-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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