OMIA:001777-9615 : Mammary tumour in Canis lupus familiaris (dog)

In other species: chimpanzee , domestic cat , tiger

Categories: Neoplasm

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 114480 (trait)

Mendelian trait/disorder: unknown

Mode of inheritance: Somatic mutation

Considered a defect: yes

Molecular basis: Arendt et al. (2023) investigate the somatic genetic aberrations occurring in canine mammary neoplasia by exome capture and next generation sequencing. Based on 55 tumor-normal pairs we identified the PIK3CA gene as the most commonly mutated gene in canine mammary tumors, with 25% of samples carrying mutations in this gene. A recurrent missense mutation was identified, p.H1047R, which is homologous to the human PIK3CA hotspot mutation found in different types of breast neoplasia. Mutations homologous to other known human mutation hotspots such as the PIK3CA p.E545K and the KRAS p.G12V/D were also identified. We identified copy number aberrations affecting important tumor suppressor and oncogenic pathways including deletions affecting the PTEN tumor suppressor gene.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha Canis lupus familiaris 34 NC_051838.1 (12496918..12576076) PIK3CA Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001777-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Çıldır, Ö.Ş., Özmen, Ö., Kul, S., Rişvanlı, A., Özalp, G., Sabuncu, A., Kul, O. :
Genetic analysis of PALB2 gene WD40 domain in canine mammary tumour patients. Vet Med Sci 10:e1366, 2024. Pubmed reference: 38527110. DOI: 10.1002/vms3.1366.
da Fonseca, I.I.M., Nagamine, M.K., Sato, A., Rossatto-Jr, C.A., Yeh, E.S., Dagli, M.L.Z. :
Inhibitory effects of alpha-connexin carboxyl-terminal peptide on canine mammary epithelial cells: A study on benign and malignant phenotypes. Cancers (Basel) 16:820, 2024. Pubmed reference: 38398211. DOI: 10.3390/cancers16040820.
Dolka, I., Czopowicz, M., Stopka, D., Wojtkowska, A., Kaszak, I., Sapierzyński, R. :
Risk factor analysis and clinicopathological characteristics of female dogs with mammary tumours from a single-center retrospective study in Poland. Sci Rep 14:5569, 2024. Pubmed reference: 38448646. DOI: 10.1038/s41598-024-56194-z.
Ferreira, T., da Costa, R.M.G., Dias, F., Gama, A., Gaspar, V.M., Mano, J.F., Oliveira, P.A., Medeiros, R. :
Exploring the role of microRNAs as diagnostic and prognostic biomarkers in canine mammary tumors. Geroscience , 2024. Pubmed reference: 38954129. DOI: 10.1007/s11357-024-01260-7.
Gherman, L.M., Tomuleasa, D., Cismaru, A., Nutu, A., Berindan-Neagoe, I. :
Exploring the contrasts: in-depth analysis of human and canine mammary tumors - discoveries at the frontier. Med Pharm Rep 97:132-142, 2024. Pubmed reference: 38746025. DOI: 10.15386/mpr-2733.
Ke, C.H., Lin, C.N., Lin, C.S. :
Hormone, targeted, and combinational therapies for breast cancers: From humans to dogs. Int J Mol Sci 25:732, 2024. Pubmed reference: 38255807. DOI: 10.3390/ijms25020732.
Mei, C., Zhang, X., Zhi, Y., Liang, Z., Xu, H., Liu, Z., Liu, Y., Lyu, Y., Wang, H. :
Isorhamnetin regulates programmed death ligand-1 expression by suppressing the EGFR-STAT3 signaling pathway in canine mammary tumors. Int J Mol Sci 25:670, 2024. Pubmed reference: 38203840. DOI: 10.3390/ijms25010670.
Nosalova, N., Huniadi, M., Horňáková, Ľ., Valenčáková, A., Horňák, S., Nagoos, K., Vozar, J., Cizkova, D. :
Canine mammary tumors: Classification, biomarkers, traditional and personalized therapies. Int J Mol Sci 25:2891, 2024. Pubmed reference: 38474142. DOI: 10.3390/ijms25052891.
Razavirad, A., Rismanchi, S., Mortazavi, P., Muhammadnejad, A. :
Canine mammary tumors as a potential model for human breast cancer in comparative oncology. Vet Med Int 2024:9319651, 2024. Pubmed reference: 38766503. DOI: 10.1155/2024/9319651.
Rueda, J.R., Porto, C.D., Franco, R.P., da Costa, I.B., Bueno, L.M.C., Girio, R.J.S., Manhoso, F.F.R., Bueno, P.C.D.S., Repetti, C.S.F. :
Mammary neoplasms in female dogs: Clinical, diagnostic and therapeutic aspects. Vet Med (Praha) 69:99-114, 2024. Pubmed reference: 38751991. DOI: 10.17221/4/2024-VETMED.
2023 Araki, M., Noguchi, S., Kubo, Y., Yasuda, A., Koh, M., Otsuka, H., Yokosuka, M., Soeta, S. :
Expression of type VI collagen α3 chain in canine mammary carcinomas. Res Vet Sci 159:171-182, 2023. Pubmed reference: 37148736. DOI: 10.1016/j.rvsc.2023.04.010.
Arendt, M.L., Sakthikumar, S., Melin, M., Elvers, I., Rivera, P., Larsen, M., Saellström, S., Lingaas, F., Rönnberg, H., Lindblad-Toh, K. :
PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia. Sci Rep 13:632, 2023. Pubmed reference: 36635367. DOI: 10.1038/s41598-023-27664-7.
Canadas-Sousa, A., Santos, M., Dias-Pereira, P. :
Protective effect of HER2 gene polymorphism rs24537331 in the outcome of canine mammary tumors. Animals (Basel) 13:1384, 2023. Pubmed reference: 37106947. DOI: 10.3390/ani13081384.
Carvalho, P.T., Niza-Ribeiro, J., Amorim, I., Queiroga, F., Severo, M., Ribeiro, A.I., Pinello, K. :
Comparative epidemiological study of breast cancer in humans and canine mammary tumors: insights from Portugal. Front Vet Sci 10:1271097, 2023. Pubmed reference: 38098996. DOI: 10.3389/fvets.2023.1271097.
Edmunds, G., Beck, S., Kale, K.U., Spasic, I., O'Neill, D., Brodbelt, D., Smalley, M.J. :
Associations between dog breed and clinical features of mammary epithelial neoplasia in bitches: an epidemiological study of submissions to a single diagnostic pathology centre between 2008-2021. J Mammary Gland Biol Neoplasia 28:6, 2023. Pubmed reference: 36961631. DOI: 10.1007/s10911-023-09531-3.
Ettlin, J., Bauer, A., Opitz, L., Malbon, A., Markkanen, E. :
Deciphering stromal changes between metastatic and non-metastatic canine mammary carcinomas. J Mammary Gland Biol Neoplasia 28:14, 2023. Pubmed reference: 37391533. DOI: 10.1007/s10911-023-09542-0.
Fedets, O.M., Dmytruk, K.V., Adaszek, L., Kurlyak, I.M., Dmytruk, O.V., Lisiecka, U., Winiarczyk, S. :
Polymorphism of glutathione S-transferase P1 of dogs with mammary tumors. Vet Comp Oncol 21:270-278, 2023. Pubmed reference: 36808425. DOI: 10.1111/vco.12885.
Ferreira, T., Gama, A., Seixas, F., Faustino-Rocha, A.I., Lopes, C., Gaspar, V.M., Mano, J.F., Medeiros, R., Oliveira, P.A. :
Mammary glands of women, female dogs and female rats: Similarities and differences to be considered in breast cancer research. Vet Sci 10:379, 2023. Pubmed reference: 37368765. DOI: 10.3390/vetsci10060379.
Gherman, L.M., Chiroi, P., Nuţu, A., Bica, C., Berindan-Neagoe, I. :
Profiling canine mammary tumors: A potential model for studying human breast cancer. Vet J 303:S1090-0233(23)00106-5:106055, 2023. Pubmed reference: 38097103. DOI: 10.1016/j.tvjl.2023.106055.
Kim, K., Song, J.E., Joo, J.B., Park, H.A., Choi, C.H., Je, C.Y., Kim, O.K., Park, S.W., Do, Y.J., Hur, T.Y., Park, S.I., Lee, C.M. :
Genome-wide association study of mammary gland tumors in Maltese dogs. Front Vet Sci 10:1255981, 2023. Pubmed reference: 37859946. DOI: 10.3389/fvets.2023.1255981.
Koo, H., Lee, S., Kim, W.H. :
Usability of serum hedgehog signalling proteins as biomarkers in canine mammary carcinomas. BMC Vet Res 19:231, 2023. Pubmed reference: 37932728. DOI: 10.1186/s12917-023-03761-7.
Kwon, J.Y., Moskwa, N., Kang, W., Fan, T.M., Lee, C. :
Canine as a comparative and translational model for human mammary tumor. J Breast Cancer 26:1-13, 2023. Pubmed reference: 36762784. DOI: 10.4048/jbc.2023.26.e4.
Maqoud, F., Zizzo, N., Attimonelli, M., Tinelli, A., Passantino, G., Antonacci, M., Ranieri, G., Tricarico, D. :
Immunohistochemical, pharmacovigilance, and omics analyses reveal the involvement of ATP-sensitive K<sup>+</sup> channel subunits in cancers: role in drug-disease interactions. Front Pharmacol 14:1115543, 2023. Pubmed reference: 37180726. DOI: 10.3389/fphar.2023.1115543.
Mucha, A., Nowak, B., Dzimira, S., Liszka, B., Zatoń-Dobrowolska, M. :
Identification of SNP markers for canine mammary gland tumours in females based on a genome-wide association study - preliminary results. J Vet Res 67:427-436, 2023. Pubmed reference: 37786854. DOI: 10.2478/jvetres-2023-0040.
Oh, J.H., Cho, J.Y. :
Comparative oncology: overcoming human cancer through companion animal studies. Exp Mol Med 55:725-734, 2023. Pubmed reference: 37009802. DOI: 10.1038/s12276-023-00977-3.
Rodríguez-Bejarano, O.H., Roa, L., Vargas-Hernández, G., Botero-Espinosa, L., Parra-López, C., Patarroyo, M.A. :
Strategies for studying immune and non-immune human and canine mammary gland cancer tumour infiltrate. Biochim Biophys Acta Rev Cancer 1879:S0304-419X(23)00213-5:189064, 2023. Pubmed reference: 38158026. DOI: 10.1016/j.bbcan.2023.189064.
Sammarco, A., Gomiero, C., Beffagna, G., Cavicchioli, L., Ferro, S., Michieletto, S., Orvieto, E., Patruno, M., Zappulli, V. :
Epithelial-to-mesenchymal transition and phenotypic marker evaluation in human, canine, and feline mammary gland tumors. Animals (Basel) 13:878, 2023. Pubmed reference: 36899736. DOI: 10.3390/ani13050878.
Santos, D.B., Fernandez, G.J., Pardini, L.M.C., Pardini, M.I.M.C., Ferrasi, A.C. :
Transcriptomic profile of canine mammary ductal carcinoma. Int J Mol Sci 24:5212, 2023. Pubmed reference: 36982287. DOI: 10.3390/ijms24065212.
Seitz, J., Bilsland, A., Puget, C., Baasner, I., Klopfleisch, R., Stein, T. :
SFRP1 expression is inversely associated with metastasis formation in canine mammary tumours. J Mammary Gland Biol Neoplasia 28:15, 2023. Pubmed reference: 37402051. DOI: 10.1007/s10911-023-09543-z.
Sgadari, M., Cacciola, N.A., Power, K., Martano, M., Restucci, B. :
Sirtuin 1 expression in canine mammary tumors: A pilot study. Animals (Basel) 13:2609, 2023. Pubmed reference: 37627400. DOI: 10.3390/ani13162609.
Tamarindo, G.H., Novais, A.A., Chuffa, L.G.A., Zuccari, D.A.P.C. :
Metabolic alterations in canine mammary tumors. Animals (Basel) 13:2757, 2023. Pubmed reference: 37685021. DOI: 10.3390/ani13172757.
Tkaczyk-Wlizło, A., Kowal, K., Śmiech, A., Ślaska, B. :
Occurrence of mammary gland tumours in male dogs and its weak association with development of testicular tumours: a review. J Appl Genet 65:137-153, 2023. Pubmed reference: 38123735. DOI: 10.1007/s13353-023-00818-z.
Varney, D., O'Neill, D., O'Neill, M., Church, D., Stell, A., Beck, S., Smalley, M.J., Brodbelt, D. :
Epidemiology of mammary tumours in bitches under veterinary care in the UK in 2016. Vet Rec 193:e3054, 2023. Pubmed reference: 37231594. DOI: 10.1002/vetr.3054.
Vazquez, E., Lipovka, Y., Cervantes-Arias, A., Garibay-Escobar, A., Haby, M.M., Queiroga, F.L., Velazquez, C. :
Canine mammary cancer: State of the art and future perspectives. Animals (Basel) 13:3147, 2023. Pubmed reference: 37835752. DOI: 10.3390/ani13193147.
Watson, J., Wang, T., Ho, K.L., Feng, Y., Dobbin, K.K., Zhao, S. :
Human basal-like breast cancer is represented by one of the two mammary tumor subtypes in dogs. bioRxiv , 2023. Pubmed reference: 37034591. DOI: 10.1101/2023.03.02.530622.
Yang, N.Y., Zheng, H.H., Yu, C., Ye, Y., Du, C.T., Xie, G.H. :
Research progress of good markers for canine mammary carcinoma. Mol Biol Rep 50:10617-10625, 2023. Pubmed reference: 37943402. DOI: 10.1007/s11033-023-08863-x.
Yeom, J., Cho, Y., Ahn, S., Jeung, S. :
Anticancer effects of alpelisib on PIK3CA-mutated canine mammary tumor cell lines. Front Vet Sci 10:1279535, 2023. Pubmed reference: 38033642. DOI: 10.3389/fvets.2023.1279535.
Zhu, Z., Kitano, T., Morimatsu, M., Ochiai, K., Ishiguro-Oonuma, T., Oosumi, K., Lin, X., Orino, K., Yoshikawa, Y. :
A highly conserved region in BRCA2 suppresses the RAD51-interaction activity of BRC repeats. Vet Sci 10:145, 2023. Pubmed reference: 36851449. DOI: 10.3390/vetsci10020145.
2021 de Oliveira, J.R., Colombo, J., Gonçalves, F.M., de Carvalho, L.A.L., Costa, D.S., Henrique, T., Novais, A.A., Moschetta-Pinheiro, M.G., Chuffa, L.G.A., Coutinho, L.L., Santana, Á.E., Zuccari, D.A.P.C. :
Liquid biopsy can detect BRCA2 gene variants in female dogs with mammary neoplasia. Vet Comp Oncol 20:164-171, 2021. Pubmed reference: 34328705. DOI: 10.1111/vco.12758.
2020 Kim, J.H. :
PIK3CA mutations matter for cancer in dogs. Res Vet Sci 133:39-41, 2020. Pubmed reference: 32932196. DOI: 10.1016/j.rvsc.2020.09.001.
2019 Kowal, K., Ślaska, B., Bownik, A., Horecka, B., Gawor, J., Śmiech, A., Tkaczyk, A. :
Analysis of mitochondrial genome from Labrador (Canis lupus familiaris) with mammary gland tumour reveals novel mutations and polymorphisms. Ann. Anim. Sci. 19:619-632, 2019. DOI: 10.2478/aoas-2019-0027.
Maués, T., El-Jaick, K.B., Costa, F.B., Freitas, P.V.S., Moreira, A.S., Castro, L., Ferreira, M.L.G., Ferreira, A.M.R. :
Could polymorphisms in ABCB1 gene represent a genetic risk factor for the development of mammary tumors in dogs? Vet J 248:58-63, 2019. Pubmed reference: 31113564. DOI: 10.1016/j.tvjl.2019.04.010.
2018 Canadas, A., Santos, M., Pinto, R., Medeiros, R., Dias-Pereira, P. :
Catechol-o-methyltransferase genotypes are associated with progression and biological behaviour of canine mammary tumours. Vet Comp Oncol 16:664-669, 2018. Pubmed reference: 30168237. DOI: 10.1111/vco.12438.
2016 Melin, M., Rivera, P., Arendt, M., Elvers, I., Murén, E., Gustafson, U., Starkey, M., Borge, K.S., Lingaas, F., Häggström, J., Saellström, S., Rönnberg, H., Lindblad-Toh, K. :
Genome-wide analysis identifies germ-line risk factors associated with canine mammary tumours. PLoS Genet 12:e1006029, 2016. Pubmed reference: 27158822. DOI: 10.1371/journal.pgen.1006029.
Surdyka, M., Slaska, B. :
Defect of the mitochondrial DNA hypervariable region as a risk factor for canine mammary tumour. Vet Comp Oncol 15:820-828, 2016. Pubmed reference: 27198058. DOI: 10.1111/vco.12224.
2015 Sun, W., Yang, X., Qiu, H., Zhang, D., Wang, H., Huang, J., Lin, D. :
Relationship between three novel SNPs of BRCA1 and canine mammary tumors. J Vet Med Sci 77:1541-3, 2015. Pubmed reference: 26156012. DOI: 10.1292/jvms.15-0044.
2013 Borge, K.S., Melin, M., Rivera, P., Thoresen, S.I., Webster, M.T., von Euler, H., Lindblad-Toh, K., Lingaas, F. :
The ESR1 gene is associated with risk for canine mammary tumours. BMC Vet Res 9:69, 2013. Pubmed reference: 23574728. DOI: 10.1186/1746-6148-9-69.
Dobson, J.M. :
Breed-predispositions to cancer in pedigree dogs. ISRN Vet Sci 2013:941275, 2013. Pubmed reference: 23738139. DOI: 10.1155/2013/941275.
2008 Dias Pereira, P., Lopes, C.C., Matos, A.J., Pinto, D., Gärtner, F., Lopes, C., Medeiros, R. :
Estrogens metabolism associated with polymorphisms: influence of COMT G482a genotype on age at onset of canine mammary tumors. Vet Pathol 45:124-30, 2008. Pubmed reference: 18424824. DOI: 10.1354/vp.45-2-124.
1998 Schafer, K.A., Kelly, G., Schrader, R., Griffith, W.C., Muggenburg, B.A., Tierney, L.A., Lechner, J.E., Janovitz, E.B., Hahn, F.F. :
A canine model of familial mammary gland neoplasia Vet Pathol 35:168-77, 1998. Pubmed reference: 9598580. DOI: 10.1177/030098589803500302.

Edit History

  • Created by Frank Nicholas on 17 Apr 2013
  • Changed by Imke Tammen2 on 28 Aug 2021
  • Changed by Imke Tammen2 on 16 Sep 2021
  • Changed by Imke Tammen2 on 16 Jan 2023
  • Changed by Imke Tammen2 on 23 Jan 2023
  • Changed by Imke Tammen2 on 15 Feb 2023