Liquid biopsy can detect BRCA2 gene variants in female dogs with mammary neoplasia.
BRCA2 gene
breast cancer
dogs
genetic variants
personalised medicine
Journal
Veterinary and comparative oncology
ISSN: 1476-5829
Titre abrégé: Vet Comp Oncol
Pays: England
ID NLM: 101185242
Informations de publication
Date de publication:
Mar 2022
Mar 2022
Historique:
revised:
09
07
2021
received:
02
05
2021
accepted:
28
07
2021
pubmed:
31
7
2021
medline:
1
4
2022
entrez:
30
7
2021
Statut:
ppublish
Résumé
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.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
164-171Subventions
Organisme : Fundação de Amparo à Pesquisa do Estado de São Paulo
ID : 2017/15006-5
Informations de copyright
© 2021 John Wiley & Sons Ltd.
Références
Rivera P, Melin M, Biagi T, et al. Mammary tumor development in dogs is associated with BRCA1 and BRCA2. Cancer Res. 2009;69(22):8770-8774.
Salas Y, Márquez A, Diaz D, Romero L. Epidemiological study of mammary tumors in female dogs diagnosed during the period 2002-2012: a growing animal health problem. PLoS One. 2015;10(5):e0127381.
Sorenmo KU, Worley DR, Zappulli V. Tumors of the mammary gland. Withrow & MacEwen's, Small Animal Clinical Oncology. 6a ed. St. Missouri, ST: Elsevier, Inc; 2020:604-625.
Fackenthal JD, Olopade OI. Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer. 2007;7(12):937-948.
Coelho AS, Santos MAS, Caetano RI, et al. Hereditary predisposition to breast cancer and its relation to the BRCA1 and BRCA2 genes: literature review. Rev Bras Anal Clin. 2018;50(1):17-21.
Metcalfe KA, Lubinski J, Gronwald J, et al. The risk of breast cancer in BRCA1 and BRCA2 mutation carriers without a first-degree relative with breast cancer. Clin Genet. 2018;93(5):1063-1068.
Mehta A, Vasudevan S, Sharma SK, et al. Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India. Cancer Manag Res. 2018;10:6505-6516.
Alimirzaie S, Bagherzadeh M, Akbari MR. Liquid biopsy in breast cancer: a comprehensive review. Clin Genet. 2019;95(6):643-660.
Barros BD, Kupper BEC, Aguiar Junior S, et al. Mutation detection in tumor-derived cell free DNA anticipates progression in a patient with metastatic colorectal cancer. Front Oncol. 2018;8:1-6. https://doi.org/10.3389/fonc.2018.00306
Chen M, Zhao H. Next-generation sequencing in liquid biopsy: cancer screening and early detection. Hum Genomics. 2019;13:34.
Lutful Kabir FM, Alvarez CE, Bird RC. Canine mammary carcinomas: a comparative analysis of altered gene expression. Vet Sci. 2015;3(1):1.
Crivellenti LZ, Silva GE, Borin-Crivellenti S, et al. Prevalence of glomerulopathies in canine mammary carcinoma. PLoS One. 2016;11(10):e0164479.
The European Bioinformatics Institute of the European Molecular Biology Laboratory. Ensembl. https://www.ensembl.org/index.html. 2020.
Hsu WL, Huang YH, Chang TJ, Wong ML, Chang SC. Single nucleotide variation in exon 11 of canine BRCA2 in healthy and cancerous mammary tissue. Vet J. 2010;184(3):351-356.
Borge KS, Borresen-Dale AL, Lingaas F. Identification of genetic variation in 11 candidate genes of canine mammary tumor. Vet Comp Oncol. 2011;9(4):241-250.
Ozmen O, Kul S, Risvanli A, et al. Somatic SNPs of the BRCA2 gene at the fragments encoding RAD51 binding sites of canine mammary tumors. Vet Comp Oncol. 2017;15(4):1479-1486.
Maués T, El-Jaick KB, Costa FB, et al. Common germline haplotypes and genotypes identified in BRCA2 exon 11 of dogs with mammary tumors and histopathological analyses. Vet Comp Oncol. 2018;16(3):379-384.
Yoshikawa Y, Ochiai K, Morimatsu M, et al. Effects of the missense mutations in canine BRCA2 on BRC repeat 3 functions and comparative analyses between canine and human BRC repeat 3. PLoS One. 2012;7(10):e45833.
Thumser-Henner P, Nytko KJ, Rohrer BC. Mutations of BRCA2 in canine mammary tumors and their targeting potential in clinical therapy. BMC Vet Res. 2020;16(30):2020.
Lord CJ, Ashworth A. PARP inhibitors: synthetic lethality in the clinic. Science. 2017;355(6330):1152-1158.
Rahim B, O'Regan R. AR signaling in breast cancer. Cancers (Basel). 2017;9(3):21.
Pérez-Barrios C, Nieto-Alcolado I, Torrente M, et al. Comparison of methods for circulating cell-free DNA isolation using blood from cancer patients: impact on biomarker testing. Transl Lung Cancer Res. 2016;5(6):665-672.
Luna LG. Manual of Histologic Staining Methods of the Armed Forces Institute of Pathology. 3rd ed. New York, NY: McGraw Hill; 1968.
Goldschmidt M, Peña L, Rasotto R, Zappulli V. Classification and grading of canine mammary tumors. Vet Pathol. 2011;48(1):117-131.
Elston CW, Ellis IO. Assessment of histological grade. In: Elston CW, Ellis IO, eds. Systemic Pathology - The Breast. London, UK: Churchill: Livingstone; 1998:365-384.
Andrews S. FastQC: A Quality Control Tool for High Throughput Sequence Data. Cambridge, UK: Babraham Bioinformatics, Babraham Institute; 2010.
Schmieder R, Edwards R. Quality control and preprocessing of metagenomic datasets. Bioinformatics. 2011;27(6):863-864.
Li H, Durbin R. Fast and accurate short read alignment with burrows-wheeler transform. Bioinformatics. 2009;25(14):1754-1760.
Wysoker A, Tibbetts K, Fennell T. Picard tools 2013. http://broadinstitute.github.io/picard/. 2018.
Li H, Handsaker B, Wysoker A, et al. The sequence alignment/map format and SAMtools. Bioinformatics. 2009;25(16):2078-2079.
McKenna A, Hanna M, Banks E, et al. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297-1303.
McLaren W, Gil L, Hunt SE, et al. The ensemble variant effect predictor. Genome Biol. 2016;17(1):122.
Choi Y, Sims GE, Murphy S, Miller JR, Chan AP. Predicting the functional effect of amino acid substitutions and indels. PLoS One. 2012;7(10):e46688.
Bendl J, Stourac J, Salanda O, et al. PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations. PLoS Comput Biol. 2014;10(1):e1003440.
Robinson JT, Thorvaldsdóttir H, Winckler W, et al. Integrative genomics viewer. Nat Biotechnol. 2011;29:24-26.
Mouliere F, Robert B, Peyrotte E. High fragmentation characterizes tumour derived circulating DNA. PLoS One. 2011;6:e23418.
Huskey A, Goebel K, Loveras-Fuentes C, et al. Whole genome sequencing for the investigation of canine mammary tumor inheritance - an initial assessment of high-risk breast cancer genes reveal BRCA2 and STK11 variants potentially associated with risk in purebred dogs. Canine Genet Epidemiol. 2020;7:1-13.
Yoshikawa Y, Morimatsu M, Ochiai K, et al. Novel variations and loss of heterozygosity of BRCA2 identified in a dog with mammary tumors. Am J Vet Res. 2008;69(10):1323-1328.
Ochiai K, Ishiguro-Oonuma T, Yoshikawa Y, et al. Polymorphisms of canine BRCA2 BRC repeats affecting interaction with RAD51. Biomed Res. 2015;36(2):155-158.
Yoshikawa Y, Morimatsu M, Ochiai K, et al. Establishment of a PCR analysis method for canine BRCA2. BMC Res Notes. 2012;3:173.
Yoshikawa Y, Morimatsu M, Ochiai K, et al. Analysis of genetic variations in the exon 27 region of the canine BRCA2 locus. J Vet Med Sci. 2005;67(10):1013-1017.
Enginler SO, Akış I, Toydemir TS, et al. Genetic variations of BRCA1 and BRCA2 genes in dogs with mammary tumours. Vet Res Commun. 2014;38(1):21-27.