Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer
Abstract 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 pati...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Federação Brasileira das Sociedades de Ginecologia e Obstetrícia
2023-07-01
|
| Series: | Revista Brasileira de Ginecologia e Obstetrícia |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032023000200074&lng=en&tlng=en |
| _version_ | 1797783295780454400 |
|---|---|
| author | Camila Martins de Carvalho Letícia da Conceição Braga Luciana Maria Silva Anisse Marques Chami Agnaldo Lopes da Silva Filho |
| author_facet | Camila Martins de Carvalho Letícia da Conceição Braga Luciana Maria Silva Anisse Marques Chami Agnaldo Lopes da Silva Filho |
| author_sort | Camila Martins de Carvalho |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-03-13T00:24:01Z |
| format | Article |
| id | doaj.art-40e6288a612f461688ebbaef95896dc4 |
| institution | Directory Open Access Journal |
| issn | 0100-7203 |
| language | English |
| last_indexed | 2024-03-13T00:24:01Z |
| publishDate | 2023-07-01 |
| publisher | Federação Brasileira das Sociedades de Ginecologia e Obstetrícia |
| record_format | Article |
| series | Revista Brasileira de Ginecologia e Obstetrícia |
| spelling | doaj.art-40e6288a612f461688ebbaef95896dc42023-07-11T07:46:23ZengFederação Brasileira das Sociedades de Ginecologia e ObstetríciaRevista Brasileira de Ginecologia e Obstetrícia0100-72032023-07-01452748110.1055/s-0042-1757956Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast CancerCamila Martins de Carvalhohttps://orcid.org/0000-0001-7376-5950Letícia da Conceição Bragahttps://orcid.org/0000-0002-6181-9410Luciana Maria Silvahttps://orcid.org/0000-0002-3875-3425Anisse Marques Chamihttps://orcid.org/0000-0002-2651-0995Agnaldo Lopes da Silva Filhohttps://orcid.org/0000-0002-8486-7861Abstract 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032023000200074&lng=en&tlng=engermline variantsgenetic counselinggynecological cancer riskhereditary syndromes |
| spellingShingle | Camila Martins de Carvalho Letícia da Conceição Braga Luciana Maria Silva Anisse Marques Chami Agnaldo Lopes da Silva Filho Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer Revista Brasileira de Ginecologia e Obstetrícia germline variants genetic counseling gynecological cancer risk hereditary syndromes |
| 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 |
| 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_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_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 |
| topic | germline variants genetic counseling gynecological cancer risk hereditary syndromes |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032023000200074&lng=en&tlng=en |
| work_keys_str_mv | AT camilamartinsdecarvalho germlinemutationslandscapeinacohortofthestateofminasgeraisbrazilinpatientswhounderwentgeneticcounselingforgynecologicalandbreastcancer AT leticiadaconceicaobraga germlinemutationslandscapeinacohortofthestateofminasgeraisbrazilinpatientswhounderwentgeneticcounselingforgynecologicalandbreastcancer AT lucianamariasilva germlinemutationslandscapeinacohortofthestateofminasgeraisbrazilinpatientswhounderwentgeneticcounselingforgynecologicalandbreastcancer AT anissemarqueschami germlinemutationslandscapeinacohortofthestateofminasgeraisbrazilinpatientswhounderwentgeneticcounselingforgynecologicalandbreastcancer AT agnaldolopesdasilvafilho germlinemutationslandscapeinacohortofthestateofminasgeraisbrazilinpatientswhounderwentgeneticcounselingforgynecologicalandbreastcancer |