Germline and Somatic mutations in postmenopausal breast cancer patients
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Clinics |
Texto Completo: | https://www.revistas.usp.br/clinics/article/view/212945 |
Resumo: | OBJECTIVES: In breast cancer (BC) patients, the frequency of germline BRCA mutations (gBRCA) may vary according to the ethnic background, age, and family history of cancer. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is the second most common somatic mutated gene in BC; however, the association of mutations in both genes with cancer has not been thoroughly investigated. Thus, our aims were to investigate gBRCA mutation frequency in a cohort of postmenopausal Brazilian BC patients and the association of gBRCA1/BRCA2 and PIK3CA somatic mutations. METHODS: Forty-nine postmenopausal (>55 years) and forty-one young (≤35 years) BC patients were included in this study. The postmenopausal group included patients who reported a positive family history of cancer. For these patients, gBRCA1/BRCA2 were sequenced using next-generation sequencing (NGS) or Sanger sequencing. Data for gBRCA in young patients were already available from a previous study. DNA from formalin-fixed, paraffin-embedded (FFPE) tumors was obtained from 27 postmenopausal and 41 young patients for analyzing exons 9 and 20 of PIK3CA. The association between gBRCA1/BRCA2 and somatic mutations in PIK3CA was investigated. RESULTS: The overall frequency of gBRCA1/BRCA2 among the 49 postmenopausal patients was 10.2%. The frequencies of somatic mutations in PIK3CA in the postmenopausal and young patients were 37% and 17%, respectively (ns). The most common PIK3CA mutation was found to be E454A. Nonsense and frameshift mutations, which may counteract the oncogenic potential of PIK3CA were also detected. Regardless of age, 25% of BRCA1/BRCA2 mutation carriers and non-carriers , each, had PIK3CA somatic mutations. CONCLUSIONS: Data obtained indicate that BRCA1/BRCA2 gene testing may be considered for postmenopausal patients with BC who have a family history of cancer. Although some of them are not considered pathogenic, somatic variants of PIK3CA are frequently observed in BC patients, especially in postmenopausal patients. |
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Clinics |
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Germline and Somatic mutations in postmenopausal breast cancer patientsBreast CancerGermline MutationSomatic MutationBRCA1BRCA2PIK3CAOBJECTIVES: In breast cancer (BC) patients, the frequency of germline BRCA mutations (gBRCA) may vary according to the ethnic background, age, and family history of cancer. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is the second most common somatic mutated gene in BC; however, the association of mutations in both genes with cancer has not been thoroughly investigated. Thus, our aims were to investigate gBRCA mutation frequency in a cohort of postmenopausal Brazilian BC patients and the association of gBRCA1/BRCA2 and PIK3CA somatic mutations. METHODS: Forty-nine postmenopausal (>55 years) and forty-one young (≤35 years) BC patients were included in this study. The postmenopausal group included patients who reported a positive family history of cancer. For these patients, gBRCA1/BRCA2 were sequenced using next-generation sequencing (NGS) or Sanger sequencing. Data for gBRCA in young patients were already available from a previous study. DNA from formalin-fixed, paraffin-embedded (FFPE) tumors was obtained from 27 postmenopausal and 41 young patients for analyzing exons 9 and 20 of PIK3CA. The association between gBRCA1/BRCA2 and somatic mutations in PIK3CA was investigated. RESULTS: The overall frequency of gBRCA1/BRCA2 among the 49 postmenopausal patients was 10.2%. The frequencies of somatic mutations in PIK3CA in the postmenopausal and young patients were 37% and 17%, respectively (ns). The most common PIK3CA mutation was found to be E454A. Nonsense and frameshift mutations, which may counteract the oncogenic potential of PIK3CA were also detected. Regardless of age, 25% of BRCA1/BRCA2 mutation carriers and non-carriers , each, had PIK3CA somatic mutations. CONCLUSIONS: Data obtained indicate that BRCA1/BRCA2 gene testing may be considered for postmenopausal patients with BC who have a family history of cancer. Although some of them are not considered pathogenic, somatic variants of PIK3CA are frequently observed in BC patients, especially in postmenopausal patients.Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo2021-07-16info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://www.revistas.usp.br/clinics/article/view/21294510.6061/clinics/2021/e2837Clinics; Vol. 76 (2021); e2837Clinics; v. 76 (2021); e2837Clinics; Vol. 76 (2021); e28371980-53221807-5932reponame:Clinicsinstname:Universidade de São Paulo (USP)instacron:USPenghttps://www.revistas.usp.br/clinics/article/view/212945/194986Copyright (c) 2023 Clinicsinfo:eu-repo/semantics/openAccessNagy, Tauana RodriguesMaistro, SimoneEncinas, GisellyKatayama, Maria Lucia HirataPereira, Glaucia Fernanda de LimaGaburo-Júnior, NelsonFranco, Lucas Augusto MoysesGouvêa, Ana Carolina Ribeiro Chaves deEstevez Diz, Maria del PilarLeite, Luiz Antonio SennaFolgueira, Maria Aparecida Azevedo Koike2023-07-06T13:04:05Zoai:revistas.usp.br:article/212945Revistahttps://www.revistas.usp.br/clinicsPUBhttps://www.revistas.usp.br/clinics/oai||clinics@hc.fm.usp.br1980-53221807-5932opendoar:2023-07-06T13:04:05Clinics - Universidade de São Paulo (USP)false |
dc.title.none.fl_str_mv |
Germline and Somatic mutations in postmenopausal breast cancer patients |
title |
Germline and Somatic mutations in postmenopausal breast cancer patients |
spellingShingle |
Germline and Somatic mutations in postmenopausal breast cancer patients Nagy, Tauana Rodrigues Breast Cancer Germline Mutation Somatic Mutation BRCA1 BRCA2 PIK3CA |
title_short |
Germline and Somatic mutations in postmenopausal breast cancer patients |
title_full |
Germline and Somatic mutations in postmenopausal breast cancer patients |
title_fullStr |
Germline and Somatic mutations in postmenopausal breast cancer patients |
title_full_unstemmed |
Germline and Somatic mutations in postmenopausal breast cancer patients |
title_sort |
Germline and Somatic mutations in postmenopausal breast cancer patients |
author |
Nagy, Tauana Rodrigues |
author_facet |
Nagy, Tauana Rodrigues Maistro, Simone Encinas, Giselly Katayama, Maria Lucia Hirata Pereira, Glaucia Fernanda de Lima Gaburo-Júnior, Nelson Franco, Lucas Augusto Moyses Gouvêa, Ana Carolina Ribeiro Chaves de Estevez Diz, Maria del Pilar Leite, Luiz Antonio Senna Folgueira, Maria Aparecida Azevedo Koike |
author_role |
author |
author2 |
Maistro, Simone Encinas, Giselly Katayama, Maria Lucia Hirata Pereira, Glaucia Fernanda de Lima Gaburo-Júnior, Nelson Franco, Lucas Augusto Moyses Gouvêa, Ana Carolina Ribeiro Chaves de Estevez Diz, Maria del Pilar Leite, Luiz Antonio Senna Folgueira, Maria Aparecida Azevedo Koike |
author2_role |
author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Nagy, Tauana Rodrigues Maistro, Simone Encinas, Giselly Katayama, Maria Lucia Hirata Pereira, Glaucia Fernanda de Lima Gaburo-Júnior, Nelson Franco, Lucas Augusto Moyses Gouvêa, Ana Carolina Ribeiro Chaves de Estevez Diz, Maria del Pilar Leite, Luiz Antonio Senna Folgueira, Maria Aparecida Azevedo Koike |
dc.subject.por.fl_str_mv |
Breast Cancer Germline Mutation Somatic Mutation BRCA1 BRCA2 PIK3CA |
topic |
Breast Cancer Germline Mutation Somatic Mutation BRCA1 BRCA2 PIK3CA |
description |
OBJECTIVES: In breast cancer (BC) patients, the frequency of germline BRCA mutations (gBRCA) may vary according to the ethnic background, age, and family history of cancer. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is the second most common somatic mutated gene in BC; however, the association of mutations in both genes with cancer has not been thoroughly investigated. Thus, our aims were to investigate gBRCA mutation frequency in a cohort of postmenopausal Brazilian BC patients and the association of gBRCA1/BRCA2 and PIK3CA somatic mutations. METHODS: Forty-nine postmenopausal (>55 years) and forty-one young (≤35 years) BC patients were included in this study. The postmenopausal group included patients who reported a positive family history of cancer. For these patients, gBRCA1/BRCA2 were sequenced using next-generation sequencing (NGS) or Sanger sequencing. Data for gBRCA in young patients were already available from a previous study. DNA from formalin-fixed, paraffin-embedded (FFPE) tumors was obtained from 27 postmenopausal and 41 young patients for analyzing exons 9 and 20 of PIK3CA. The association between gBRCA1/BRCA2 and somatic mutations in PIK3CA was investigated. RESULTS: The overall frequency of gBRCA1/BRCA2 among the 49 postmenopausal patients was 10.2%. The frequencies of somatic mutations in PIK3CA in the postmenopausal and young patients were 37% and 17%, respectively (ns). The most common PIK3CA mutation was found to be E454A. Nonsense and frameshift mutations, which may counteract the oncogenic potential of PIK3CA were also detected. Regardless of age, 25% of BRCA1/BRCA2 mutation carriers and non-carriers , each, had PIK3CA somatic mutations. CONCLUSIONS: Data obtained indicate that BRCA1/BRCA2 gene testing may be considered for postmenopausal patients with BC who have a family history of cancer. Although some of them are not considered pathogenic, somatic variants of PIK3CA are frequently observed in BC patients, especially in postmenopausal patients. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-07-16 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://www.revistas.usp.br/clinics/article/view/212945 10.6061/clinics/2021/e2837 |
url |
https://www.revistas.usp.br/clinics/article/view/212945 |
identifier_str_mv |
10.6061/clinics/2021/e2837 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
https://www.revistas.usp.br/clinics/article/view/212945/194986 |
dc.rights.driver.fl_str_mv |
Copyright (c) 2023 Clinics info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Copyright (c) 2023 Clinics |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo |
publisher.none.fl_str_mv |
Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo |
dc.source.none.fl_str_mv |
Clinics; Vol. 76 (2021); e2837 Clinics; v. 76 (2021); e2837 Clinics; Vol. 76 (2021); e2837 1980-5322 1807-5932 reponame:Clinics instname:Universidade de São Paulo (USP) instacron:USP |
instname_str |
Universidade de São Paulo (USP) |
instacron_str |
USP |
institution |
USP |
reponame_str |
Clinics |
collection |
Clinics |
repository.name.fl_str_mv |
Clinics - Universidade de São Paulo (USP) |
repository.mail.fl_str_mv |
||clinics@hc.fm.usp.br |
_version_ |
1800222766138392576 |