American Kennel Club. Breeds by Year Recognized [Available from: https://www.akc.org/press-center/articles/breeds-by-year-recognized/. Accessed May 2019.
Parker HG, Shearin AL, Ostrander EA. Man's best friend becomes biology's best in show: genome analyses in the domestic dog. Annu Rev Genet. 2010;44:309–36.
Article
CAS
PubMed
PubMed Central
Google Scholar
Ostrander EA, Franklin H. Epstein lecture. Both ends of the leash--the human links to good dogs with bad genes. N Engl J Med. 2012;367(7):636–46.
Article
CAS
PubMed
PubMed Central
Google Scholar
Switonski M. Dog as a model in studies on human hereditary diseases and their gene therapy. Reprod Biol. 2014;14(1):44–50.
Article
PubMed
Google Scholar
Evans JP, Brinkhous KM, Brayer GD, Reisner HM, High KA. Canine hemophilia B resulting from a point mutation with unusual consequences. Proc Natl Acad Sci U S A. 1989;86(24):10095–9.
Article
CAS
PubMed
PubMed Central
Google Scholar
Grall A, Guaguere E, Planchais S, Grond S, Bourrat E, Hausser I, et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012;44(2):140–7.
Article
CAS
PubMed
Google Scholar
Lin L, Faraco J, Li R, Kadotani H, Rogers W, Lin X, et al. The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell. 1999;98(3):365–76.
Article
CAS
PubMed
Google Scholar
van De Sluis B, Rothuizen J, Pearson PL, van Oost BA, Wijmenga C. Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum Mol Genet. 2002;11(2):165–73.
Article
Google Scholar
Jonasdottir TJ, Mellersh CS, Moe L, Heggebo R, Gamlem H, Ostrander EA, et al. Genetic mapping of a naturally occurring hereditary renal cancer syndrome in dogs. Proc Natl Acad Sci U S A. 2000;97(8):4132–7.
Article
CAS
PubMed
PubMed Central
Google Scholar
Dobson JM. Breed-predispositions to cancer in pedigree dogs. ISRN Vet Sci. 2013;2013:941275.
Article
PubMed
PubMed Central
CAS
Google Scholar
Chandler MR, Bilgili EP, Merner ND. A review of whole-exome sequencing efforts toward hereditary breast Cancer susceptibility gene discovery. Hum Mutat. 2016;37(9):835–46.
Article
PubMed
Google Scholar
Schmidt LS, Warren MB, Nickerson ML, Weirich G, Matrosova V, Toro JR, et al. Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet. 2001;69(4):876–82.
Article
CAS
PubMed
PubMed Central
Google Scholar
Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. Cancer Cell. 2002;2(2):157–64.
Article
CAS
PubMed
Google Scholar
Lingaas F, Comstock KE, Kirkness EF, Sorensen A, Aarskaug T, Hitte C, et al. A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German shepherd dog. Hum Mol Genet. 2003;12(23):3043–53.
Article
CAS
PubMed
Google Scholar
Goebel K, Merner ND. A monograph proposing the use of canine mammary tumours as a model for the study of hereditary breast cancer susceptibility genes in humans. Vet Med Sci. 2017;3(2):51–62.
Article
CAS
PubMed
PubMed Central
Google Scholar
Egenvall A, Bonnett BN, Ohagen P, Olson P, Hedhammar A, von Euler H. Incidence of and survival after mammary tumors in a population of over 80,000 insured female dogs in Sweden from 1995 to 2002. Prev Vet Med. 2005;69(1–2):109–27.
Article
PubMed
Google Scholar
Jitpean S, Hagman R, Strom Holst B, Hoglund OV, Pettersson A, Egenvall A. Breed variations in the incidence of pyometra and mammary tumours in Swedish dogs. Reprod Domest Anim. 2012;47(Suppl 6):347–50.
Article
PubMed
Google Scholar
Liu D, Xiong H, Ellis AE, Northrup NC, Rodriguez CO Jr, O'Regan RM, et al. Molecular homology and difference between spontaneous canine mammary cancer and human breast cancer. Cancer Res. 2014;74(18):5045–56.
Article
CAS
PubMed
PubMed Central
Google Scholar
Rivera P, Melin M, Biagi T, Fall T, Haggstrom J, Lindblad-Toh K, et al. Mammary tumor development in dogs is associated with BRCA1 and BRCA2. Cancer Res. 2009;69(22):8770–4.
Article
CAS
PubMed
Google Scholar
Borge KS, Melin M, Rivera P, Thoresen SI, Webster MT, von Euler H, et al. The ESR1 gene is associated with risk for canine mammary tumours. BMC Vet Res. 2013;9:69.
Article
PubMed
PubMed Central
CAS
Google Scholar
Melin M, Rivera P, Arendt M, Elvers I, Muren E, Gustafson U, et al. Genome-wide analysis identifies germ-line risk factors associated with canine mammary Tumours. PLoS Genet. 2016;12(5):e1006029.
Article
PubMed
PubMed Central
CAS
Google Scholar
Sayyab S, Viluma A, Bergvall K, Brunberg E, Jagannathan V, Leeb T, et al. Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis. G3 (Bethesda). 2016;6(3):521–7.
Article
CAS
Google Scholar
Gilliam D, O'Brien DP, Coates JR, Johnson GS, Johnson GC, Mhlanga-Mutangadura T, et al. A homozygous KCNJ10 mutation in Jack Russell terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both. J Vet Intern Med. 2014;28(3):871–7.
Article
CAS
PubMed
PubMed Central
Google Scholar
Guo J, Johnson GS, Brown HA, Provencher ML, da Costa RC, Mhlanga-Mutangadura T, et al. A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian shepherd ancestry. Mol Genet Metab. 2014;112(4):302–9.
Article
CAS
PubMed
Google Scholar
Kolicheski AL, Johnson GS, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, Kinoshita T, et al. A homozygous PIGN missense mutation in soft-coated wheaten terriers with a canine paroxysmal dyskinesia. Neurogenetics. 2017;18(1):39–47.
Article
CAS
PubMed
Google Scholar
Fyfe JC, Hemker SL, Frampton A, Raj K, Nagy PL, Gibbon KJ, et al. Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant. BMC Vet Res. 2018;14(1):418.
Article
CAS
PubMed
PubMed Central
Google Scholar
Meurs KM, Friedenberg SG, Kolb J, Saripalli C, Tonino P, Woodruff K, et al. A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death. Hum Genet. 2019;138(5):515–24.
Article
CAS
PubMed
Google Scholar
Plassais J, Rimbault M, Williams FJ, Davis BW, Schoenebeck JJ, Ostrander EA. Analysis of large versus small dogs reveals three genes on the canine X chromosome associated with body weight, muscling and back fat thickness. PLoS Genet. 2017;13(3):e1006661.
Article
PubMed
PubMed Central
CAS
Google Scholar
Liu YH, Wang L, Xu T, Guo X, Li Y, Yin TT, et al. Whole-genome sequencing of African dogs provides insights into adaptations against tropical parasites. Mol Biol Evol. 2018;35(2):287–98.
Article
CAS
PubMed
Google Scholar
Van der Auwera GA, Carneiro MO, Hartl C, Poplin R, Del Angel G, Levy-Moonshine A, et al. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr Protoc Bioinformatics. 2013;43:11 0 1–33.
Google Scholar
Bolger AM, Lohse M, Usadel B. Trimmomatic: a flexible trimmer for Illumina sequence data. Bioinformatics. 2014;30(15):2114–20.
Article
CAS
PubMed
PubMed Central
Google Scholar
Hoeppner MP, Lundquist A, Pirun M, Meadows JR, Zamani N, Johnson J, et al. An improved canine genome and a comprehensive catalogue of coding genes and non-coding transcripts. PLoS One. 2014;9(3):e91172.
Article
PubMed
PubMed Central
CAS
Google Scholar
Li H, Durbin R. Fast and accurate short read alignment with burrows-wheeler transform. Bioinformatics. 2009;25(14):1754–60.
Article
CAS
PubMed
PubMed Central
Google Scholar
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297–303.
Article
CAS
PubMed
PubMed Central
Google Scholar
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16):e164.
Article
PubMed
PubMed Central
CAS
Google Scholar
Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S, et al. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res. 2016;44(D1):D862–8.
Article
CAS
PubMed
Google Scholar
Zerbino DR, Achuthan P, Akanni W, Amode MR, Barrell D, Bhai J, et al. Ensembl 2018. Nucleic Acids Res. 2018;46(D1):D754–D61.
Article
CAS
PubMed
Google Scholar
Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, et al. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013;45(9):1067–72.
Article
CAS
PubMed
Google Scholar
EVS. NHLBI GO Exome Sequencing Project (ESP). Seattle: WA; 2019.
Google Scholar
Guo MH, Plummer L, Chan YM, Hirschhorn JN, Lippincott MF. Burden testing of rare variants identified through exome sequencing via publicly available control data. Am J Hum Genet. 2018;103(4):522–34.
Article
CAS
PubMed
PubMed Central
Google Scholar
Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, et al. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. Neuron. 2014;84(2):324–31.
Article
CAS
PubMed
PubMed Central
Google Scholar
Olesen MS, Andreasen L, Jabbari J, Refsgaard L, Haunso S, Olesen SP, et al. Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation. Heart Rhythm. 2014;11(2):246–51.
Article
PubMed
Google Scholar
Ryman N, Jorde PE. Statistical power when testing for genetic differentiation. Mol Ecol. 2001;10(10):2361–73.
Article
CAS
PubMed
Google Scholar
Fisher's Exact Test for Single Variant Analysis [Available from: http://varianttools.sourceforge.net/Association/ExactTest. Accessed May 2020.
Kim HY. Statistical notes for clinical researchers: sample size calculation 2. Comparison of two independent proportions. Restor Dent Endod. 2016;41(2):154–6.
Article
CAS
PubMed
PubMed Central
Google Scholar
Borge KS, Borresen-Dale AL, Lingaas F. Identification of genetic variation in 11 candidate genes of canine mammary tumour. Vet Comp Oncol. 2011;9(4):241–50.
Article
CAS
PubMed
Google Scholar
Yoshikawa Y, Morimatsu M, Ochiai K, Nagano M, Tomioka Y, Sasaki N, et al. Novel variations and loss of heterozygosity of BRCA2 identified in a dog with mammary tumors. Am J Vet Res. 2008;69(10):1323–8.
Article
CAS
PubMed
Google Scholar
Yoshikawa Y, Morimatsu M, Ochiai K, Nagano M, Yamane Y, Tomizawa N, et al. Insertion/deletion polymorphism in the BRCA2 nuclear localization signal. Biomed Res. 2005;26(3):109–16.
Article
CAS
PubMed
Google Scholar
Pritzlaff M, Summerour P, McFarland R, Li S, Reineke P, Dolinsky JS, et al. Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. Breast Cancer Res Treat. 2017;161(3):575–86.
Article
PubMed
Google Scholar
Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011;12(11):745–55.
Article
CAS
PubMed
Google Scholar
Lindblad-Toh K, Wade CM, Mikkelsen TS, Karlsson EK, Jaffe DB, Kamal M, et al. Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature. 2005;438(7069):803–19.
Article
CAS
PubMed
Google Scholar
Frischknecht M, Niehof-Oellers H, Jagannathan V, Owczarek-Lipska M, Drogemuller C, Dietschi E, et al. A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism. PLoS One. 2013;8(3):e60149.
Article
CAS
PubMed
PubMed Central
Google Scholar
Jagannathan V, Bannoehr J, Plattet P, Hauswirth R, Drogemuller C, Drogemuller M, et al. A mutation in the SUV39H2 gene in Labrador retrievers with hereditary nasal parakeratosis (HNPK) provides insights into the epigenetics of keratinocyte differentiation. PLoS Genet. 2013;9(10):e1003848.
Article
PubMed
PubMed Central
CAS
Google Scholar
Owczarek-Lipska M, Jagannathan V, Drogemuller C, Lutz S, Glanemann B, Leeb T, et al. A frameshift mutation in the cubilin gene (CUBN) in border collies with Imerslund-Grasbeck syndrome (selective cobalamin malabsorption). PLoS One. 2013;8(4):e61144.
Article
CAS
PubMed
PubMed Central
Google Scholar
Ahonen SJ, Arumilli M, Lohi H. A CNGB1 frameshift mutation in Papillon and Phalene dogs with progressive retinal atrophy. PLoS One. 2013;8(8):e72122.
Article
CAS
PubMed
PubMed Central
Google Scholar
Broeckx BJ, Hitte C, Coopman F, Verhoeven GE, De Keulenaer S, De Meester E, et al. Improved canine exome designs, featuring ncRNAs and increased coverage of protein coding genes. Sci Rep. 2015;5:12810.
Article
CAS
PubMed
PubMed Central
Google Scholar
Belkadi A, Bolze A, Itan Y, Cobat A, Vincent QB, Antipenko A, et al. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants. Proc Natl Acad Sci U S A. 2015;112(17):5473–8.
Article
CAS
PubMed
PubMed Central
Google Scholar
van Steenbeek FG, Hytonen MK, Leegwater PA, Lohi H. The canine era: the rise of a biomedical model. Anim Genet. 2016;47(5):519–27.
Article
PubMed
Google Scholar
Forman OP, Hitti RJ, Boursnell M, Miyadera K, Sargan D, Mellersh C. Canine genome assembly correction facilitates identification of a MAP 9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration. Mamm Genome. 2016;27(5–6):237–45.
Article
CAS
PubMed
Google Scholar
Viluma A, Sayyab S, Mikko S, Andersson G, Bergstrom TF. Evaluation of whole-genome sequencing of four Chinese crested dogs for variant detection using the ion proton system. Canine Genet Epidemiol. 2015;2:16.
Article
PubMed
PubMed Central
Google Scholar
Enginler SO, Ates A, Diren Sigirci B, Sontas BH, Sonmez K, Karacam E, et al. Measurement of C-reactive protein and prostaglandin F2alpha metabolite concentrations in differentiation of canine pyometra and cystic endometrial hyperplasia/mucometra. Reprod Domest Anim. 2014;49(4):641–7.
Article
CAS
PubMed
Google Scholar
Murray ML, Cerrato F, Bennett RL, Jarvik GP. Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: variant reclassification and surgical decisions. Genet Med. 2011;13(12):998–1005.
Article
CAS
PubMed
Google Scholar
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248–9.
Article
CAS
PubMed
PubMed Central
Google Scholar
Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. 2013; Chapter 7:Unit7 20. https://doi.org/10.1002/0471142905.hg0720s76.
Thusberg J, Olatubosun A, Vihinen M. Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat. 2011;32(4):358–68.
Article
PubMed
Google Scholar
Wu K, Hinson SR, Ohashi A, Farrugia D, Wendt P, Tavtigian SV, et al. Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Cancer Res. 2005;65(2):417–26.
CAS
PubMed
Google Scholar
So MK, Jeong TD, Lim W, Moon BI, Paik NS, Kim SC, et al. Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines. Breast Cancer. 2019;26(4):510–9. https://doi.org/10.1007/s12282-019-00951-w. Epub 2019 Feb 6.
Canadas A, Santos M, Nogueira A, Assis J, Gomes M, Lemos C, et al. Canine mammary tumor risk is associated with polymorphisms in RAD51 and STK11 genes. J Vet Diagn Investig. 2018;30(5):733–8.
Article
CAS
Google Scholar
Mavaddat N, Michailidou K, Dennis J, Lush M, Fachal L, Lee A, et al. Polygenic risk scores for prediction of breast Cancer and breast Cancer subtypes. Am J Hum Genet. 2019;104(1):21–34.
Article
CAS
PubMed
Google Scholar
Godet I, Gilkes DM. BRCA1 and BRCA2 mutations and treatment strategies for breast cancer. Integr Cancer Sci Ther. 2017;4(1). https://doi.org/10.15761/ICST.1000228. Epub 2017 Feb 27.