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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

iquid biopsy can detect BRCA2 gene variants in female dogs with mammary neoplasi

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de Oliveira, Jessica Rodrigues [1] ; Colombo, Jucimara [2] ; Goncalves, Francine Moraes [2] ; Lopes de Carvalho, Lucas Amoroso [1] ; Costa, Douglas Santos [2] ; Henrique, Tiago [3] ; Novais, Adriana Alonso [2] ; Moscheta-Pinheiro, Marina Gobbe [2] ; de Almeida Chuffa, Luiz Gustavo [4] ; Coutinho, Luiz Lehmann [5] ; Santana, Aureo Evangelista [1] ; Pires de Campos Zuccari, Debora Aparecida [6, 2, 7]
Total Authors: 12
[1] Univ Estadual Paulista, Sch Agr & Veterinarian Sci, Dept Vet Clin & Surg, Sao Paulo - Brazil
[2] FAMERP, Canc Mol Res Lab LIMC, Dept Mol Biol, Sao Jose Do Rio Preto - Brazil
[3] FAMERP, Mol Markers & Bioinformat Lab, Dept Mol Biol, Sao Jose Do Rio Preto - Brazil
[4] Univ Estadual Paulista, Inst Biosci Botucatu, Dept Anat, IBB UNESP, Botucatu, SP - Brazil
[5] Univ Sao Paulo, Luiz de Queiroz Coll Agr ESALQ, Sao Paulo - Brazil
[6] FAMERP, Dept Mol Biol, Sao Paulo - Brazil
[7] UNESP IBILCE, Program Postgrad Genet, Sao Jose Do Rio Preto - Brazil
Total Affiliations: 7
Document type: Journal article
Web of Science Citations: 0

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. (AU)

FAPESP's process: 17/15006-5 - Tumor biomarkers in liquid biopsy: study of resistance mechanisms to block DNA repair: a comparative analysis
Grantee:Debora Aparecida Pires de Campos Zuccari
Support type: Regular Research Grants