Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1055/s-0042-1757956 http://hdl.handle.net/11449/247063 |
Resumo: | Objective 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. |
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Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast CancerCenário de mutações germinativas em uma coorte do estado de Minas Gerais, Brasil, em pacientes submetidas ao aconselhamento genético para câncer ginecológico e de mamagenetic counselinggermline variantsgynecological cancer riskhereditary syndromesObjective 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.Department of Obstetrics and Gynecology Universidade Federal de Minas Gerais, MGOncoTag Desenvolvimento de Produtos e Serviços Para Saúde Humana, MGTranslational Research Laboratory in Oncology Instituto Mário Penna-Ensino Pesquisa e Inovação, MGCell Biology Service Diretoria de Pesquisa e Desenvolvimento Fundação Ezequiel Dias, MGSchool of Medicine Campus Botucatu Universidade Estadual Paulista, MGSchool of Medicine Campus Botucatu Universidade Estadual Paulista, MGUniversidade Federal de Minas Gerais (UFMG)OncoTag Desenvolvimento de Produtos e Serviços Para Saúde HumanaPesquisa e InovaçãoFundação Ezequiel DiasUniversidade Estadual Paulista (UNESP)Carvalho, Camila Martins DeBraga, Letícia Da ConceiçãoSilva, Luciana MariaChami, Anisse Marques [UNESP]Silva Filho, Agnaldo Lopes Da [UNESP]2023-07-29T12:58:01Z2023-07-29T12:58:01Z2022-04-26info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article74-81http://dx.doi.org/10.1055/s-0042-1757956Revista Brasileira de Ginecologia e Obstetricia, v. 45, n. 2, p. 74-81, 2022.0100-7203http://hdl.handle.net/11449/24706310.1055/s-0042-17579562-s2.0-85151114811Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengRevista Brasileira de Ginecologia e Obstetriciainfo:eu-repo/semantics/openAccess2023-07-29T12:58:01Zoai:repositorio.unesp.br:11449/247063Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T15:15:05.964434Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer Cenário de mutações germinativas em uma coorte do estado de Minas Gerais, Brasil, em pacientes submetidas ao aconselhamento genético para câncer ginecológico e de mama |
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 |
spellingShingle |
Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer Carvalho, Camila Martins De genetic counseling germline variants gynecological cancer risk hereditary syndromes |
title_short |
Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer |
title_full |
Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer |
title_fullStr |
Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer |
title_full_unstemmed |
Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer |
title_sort |
Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer |
author |
Carvalho, Camila Martins De |
author_facet |
Carvalho, Camila Martins De Braga, Letícia Da Conceição Silva, Luciana Maria Chami, Anisse Marques [UNESP] Silva Filho, Agnaldo Lopes Da [UNESP] |
author_role |
author |
author2 |
Braga, Letícia Da Conceição Silva, Luciana Maria Chami, Anisse Marques [UNESP] Silva Filho, Agnaldo Lopes Da [UNESP] |
author2_role |
author author author author |
dc.contributor.none.fl_str_mv |
Universidade Federal de Minas Gerais (UFMG) OncoTag Desenvolvimento de Produtos e Serviços Para Saúde Humana Pesquisa e Inovação Fundação Ezequiel Dias Universidade Estadual Paulista (UNESP) |
dc.contributor.author.fl_str_mv |
Carvalho, Camila Martins De Braga, Letícia Da Conceição Silva, Luciana Maria Chami, Anisse Marques [UNESP] Silva Filho, Agnaldo Lopes Da [UNESP] |
dc.subject.por.fl_str_mv |
genetic counseling germline variants gynecological cancer risk hereditary syndromes |
topic |
genetic counseling germline variants gynecological cancer risk hereditary syndromes |
description |
Objective 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. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-04-26 2023-07-29T12:58:01Z 2023-07-29T12:58:01Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1055/s-0042-1757956 Revista Brasileira de Ginecologia e Obstetricia, v. 45, n. 2, p. 74-81, 2022. 0100-7203 http://hdl.handle.net/11449/247063 10.1055/s-0042-1757956 2-s2.0-85151114811 |
url |
http://dx.doi.org/10.1055/s-0042-1757956 http://hdl.handle.net/11449/247063 |
identifier_str_mv |
Revista Brasileira de Ginecologia e Obstetricia, v. 45, n. 2, p. 74-81, 2022. 0100-7203 10.1055/s-0042-1757956 2-s2.0-85151114811 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Revista Brasileira de Ginecologia e Obstetricia |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
74-81 |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
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1808128487502905344 |