Liquid biopsy can detect BRCA2 gene variants in female dogs with mammary neoplasia
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/10.1111/vco.12758 http://hdl.handle.net/11449/229550 |
Resumo: | Mammary tumours (MT) are one of the most prevalent malignancies in female dogs and women. Currently, molecular analyzes have shown that each tumour type presents its own genetic signature. In this context, liquid biopsy allows a comprehensive genetic characterisation of the tumour, enabling early diagnosis and personalised treatment of patients. In women, deleterious mutations inherited in BRCA2 gene are associated with an increased risk of breast cancer, resistance to therapies and worse prognosis. In female dogs, there are many divergent data on the involvement of BRCA2 gene with mammary carcinogenesis and what its pathogenic potential is. Therefore, the objective was to identify BRCA2 gene variants in 20 plasma DNA samples, from 10 newly diagnosed dogs with mammary cancer (RD), five control (CTR) and five mastectomized patients. Eleven single nucleotide polymorphisms (SNPs) were detected, most of them in the exon 11 and two indels (deletion/insertion) in the BRCA2 gene. However, there was no statistically significant difference in the SNPs/indels detected between the groups. In addition, only one SNP (p.T1425P) and one deletion (p.L2307del) were considered deleterious using in silico computational models. Interestingly, most common variants were present in the plasma of all groups, except for the Ile2614Thr, Ile2614Val, Thr1425Pro and p.L2307del variants. Thus, we observed that SNPs are common in the BRCA2 gene of female dogs with MT, with a similar condition identified in women with breast cancer. Liquid biopsy approach in dogs with MT is useful for genetic and therapeutic proposals. |
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Liquid biopsy can detect BRCA2 gene variants in female dogs with mammary neoplasiaBRCA2 genebreast cancerdogsgenetic variantspersonalised medicineMammary tumours (MT) are one of the most prevalent malignancies in female dogs and women. Currently, molecular analyzes have shown that each tumour type presents its own genetic signature. In this context, liquid biopsy allows a comprehensive genetic characterisation of the tumour, enabling early diagnosis and personalised treatment of patients. In women, deleterious mutations inherited in BRCA2 gene are associated with an increased risk of breast cancer, resistance to therapies and worse prognosis. In female dogs, there are many divergent data on the involvement of BRCA2 gene with mammary carcinogenesis and what its pathogenic potential is. Therefore, the objective was to identify BRCA2 gene variants in 20 plasma DNA samples, from 10 newly diagnosed dogs with mammary cancer (RD), five control (CTR) and five mastectomized patients. Eleven single nucleotide polymorphisms (SNPs) were detected, most of them in the exon 11 and two indels (deletion/insertion) in the BRCA2 gene. However, there was no statistically significant difference in the SNPs/indels detected between the groups. In addition, only one SNP (p.T1425P) and one deletion (p.L2307del) were considered deleterious using in silico computational models. Interestingly, most common variants were present in the plasma of all groups, except for the Ile2614Thr, Ile2614Val, Thr1425Pro and p.L2307del variants. Thus, we observed that SNPs are common in the BRCA2 gene of female dogs with MT, with a similar condition identified in women with breast cancer. Liquid biopsy approach in dogs with MT is useful for genetic and therapeutic proposals.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Department of Veterinary Clinic and Surgery School of Agricultural and Veterinarian Sciences Univ. Estadual Paulista JaboticabalDepartment of Molecular Biology Cancer Molecular Research Laboratory (LIMC) FAMERPDepartment of Molecular Biology Molecular Markers and Bioinformatics Laboratory FAMERPDepartment of Anatomy-IBB/UNESP Institute of Biosciences of Botucatu Univ. Estadual Paulista BotucatuLuiz de Queiroz College of Agriculture (ESALQ) University of São Paulo PiracicabaDepartment of Molecular Biology FAMERPCollaborator in Program of Post-Graduate in Genetics UNESP/IBILCEDepartment of Veterinary Clinic and Surgery School of Agricultural and Veterinarian Sciences Univ. Estadual Paulista JaboticabalDepartment of Anatomy-IBB/UNESP Institute of Biosciences of Botucatu Univ. Estadual Paulista BotucatuCollaborator in Program of Post-Graduate in Genetics UNESP/IBILCEFAPESP: 2017/15006-5Universidade Estadual Paulista (UNESP)FAMERPUniversidade de São Paulo (USP)de Oliveira, Jéssica Rodrigues [UNESP]Colombo, JucimaraGonçalves, Francine Moraesde Carvalho, Lucas Amoroso Lopes [UNESP]Costa, Douglas SantosHenrique, TiagoNovais, Adriana AlonsoMoschetta-Pinheiro, Marina GobbeChuffa, Luiz Gustavo de Almeida [UNESP]Coutinho, Luiz LehmannSantana, Áureo Evangelista [UNESP]Zuccari, Debora Aparecida Pires de Campos [UNESP]2022-04-29T08:33:11Z2022-04-29T08:33:11Z2022-03-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article164-171http://dx.doi.org/10.1111/vco.12758Veterinary and Comparative Oncology, v. 20, n. 1, p. 164-171, 2022.1476-58291476-5810http://hdl.handle.net/11449/22955010.1111/vco.127582-s2.0-85115224408Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengVeterinary and Comparative Oncologyinfo:eu-repo/semantics/openAccess2022-04-29T08:33:11Zoai:repositorio.unesp.br:11449/229550Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462022-04-29T08:33:11Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Liquid biopsy can detect BRCA2 gene variants in female dogs with mammary neoplasia |
title |
Liquid biopsy can detect BRCA2 gene variants in female dogs with mammary neoplasia |
spellingShingle |
Liquid biopsy can detect BRCA2 gene variants in female dogs with mammary neoplasia de Oliveira, Jéssica Rodrigues [UNESP] BRCA2 gene breast cancer dogs genetic variants personalised medicine |
title_short |
Liquid biopsy can detect BRCA2 gene variants in female dogs with mammary neoplasia |
title_full |
Liquid biopsy can detect BRCA2 gene variants in female dogs with mammary neoplasia |
title_fullStr |
Liquid biopsy can detect BRCA2 gene variants in female dogs with mammary neoplasia |
title_full_unstemmed |
Liquid biopsy can detect BRCA2 gene variants in female dogs with mammary neoplasia |
title_sort |
Liquid biopsy can detect BRCA2 gene variants in female dogs with mammary neoplasia |
author |
de Oliveira, Jéssica Rodrigues [UNESP] |
author_facet |
de Oliveira, Jéssica Rodrigues [UNESP] Colombo, Jucimara Gonçalves, Francine Moraes de Carvalho, Lucas Amoroso Lopes [UNESP] Costa, Douglas Santos Henrique, Tiago Novais, Adriana Alonso Moschetta-Pinheiro, Marina Gobbe Chuffa, Luiz Gustavo de Almeida [UNESP] Coutinho, Luiz Lehmann Santana, Áureo Evangelista [UNESP] Zuccari, Debora Aparecida Pires de Campos [UNESP] |
author_role |
author |
author2 |
Colombo, Jucimara Gonçalves, Francine Moraes de Carvalho, Lucas Amoroso Lopes [UNESP] Costa, Douglas Santos Henrique, Tiago Novais, Adriana Alonso Moschetta-Pinheiro, Marina Gobbe Chuffa, Luiz Gustavo de Almeida [UNESP] Coutinho, Luiz Lehmann Santana, Áureo Evangelista [UNESP] Zuccari, Debora Aparecida Pires de Campos [UNESP] |
author2_role |
author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Universidade Estadual Paulista (UNESP) FAMERP Universidade de São Paulo (USP) |
dc.contributor.author.fl_str_mv |
de Oliveira, Jéssica Rodrigues [UNESP] Colombo, Jucimara Gonçalves, Francine Moraes de Carvalho, Lucas Amoroso Lopes [UNESP] Costa, Douglas Santos Henrique, Tiago Novais, Adriana Alonso Moschetta-Pinheiro, Marina Gobbe Chuffa, Luiz Gustavo de Almeida [UNESP] Coutinho, Luiz Lehmann Santana, Áureo Evangelista [UNESP] Zuccari, Debora Aparecida Pires de Campos [UNESP] |
dc.subject.por.fl_str_mv |
BRCA2 gene breast cancer dogs genetic variants personalised medicine |
topic |
BRCA2 gene breast cancer dogs genetic variants personalised medicine |
description |
Mammary tumours (MT) are one of the most prevalent malignancies in female dogs and women. Currently, molecular analyzes have shown that each tumour type presents its own genetic signature. In this context, liquid biopsy allows a comprehensive genetic characterisation of the tumour, enabling early diagnosis and personalised treatment of patients. In women, deleterious mutations inherited in BRCA2 gene are associated with an increased risk of breast cancer, resistance to therapies and worse prognosis. In female dogs, there are many divergent data on the involvement of BRCA2 gene with mammary carcinogenesis and what its pathogenic potential is. Therefore, the objective was to identify BRCA2 gene variants in 20 plasma DNA samples, from 10 newly diagnosed dogs with mammary cancer (RD), five control (CTR) and five mastectomized patients. Eleven single nucleotide polymorphisms (SNPs) were detected, most of them in the exon 11 and two indels (deletion/insertion) in the BRCA2 gene. However, there was no statistically significant difference in the SNPs/indels detected between the groups. In addition, only one SNP (p.T1425P) and one deletion (p.L2307del) were considered deleterious using in silico computational models. Interestingly, most common variants were present in the plasma of all groups, except for the Ile2614Thr, Ile2614Val, Thr1425Pro and p.L2307del variants. Thus, we observed that SNPs are common in the BRCA2 gene of female dogs with MT, with a similar condition identified in women with breast cancer. Liquid biopsy approach in dogs with MT is useful for genetic and therapeutic proposals. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-04-29T08:33:11Z 2022-04-29T08:33:11Z 2022-03-01 |
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/10.1111/vco.12758 Veterinary and Comparative Oncology, v. 20, n. 1, p. 164-171, 2022. 1476-5829 1476-5810 http://hdl.handle.net/11449/229550 10.1111/vco.12758 2-s2.0-85115224408 |
url |
http://dx.doi.org/10.1111/vco.12758 http://hdl.handle.net/11449/229550 |
identifier_str_mv |
Veterinary and Comparative Oncology, v. 20, n. 1, p. 164-171, 2022. 1476-5829 1476-5810 10.1111/vco.12758 2-s2.0-85115224408 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Veterinary and Comparative Oncology |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
164-171 |
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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1797789768419901440 |