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Table 3 Summary of canine coding variants found within orthologs of human breast cancer susceptibility genes

From: 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

GeneRS ID NumberVariant NameProtein NameVariant TypePolyphen ScoreMAF in EVA Control Cohort (%)MAF in CMT cases Cohort (%)P-values (Total CMT Cases versus EVA Controls)Initially Reported - CMT Heritability Study (Reference #)
BRCA1: ENSCAFT00000043953.1rs397509570**c.G3075A**p.S1025S**synonymousNA49.346.40.8465Borge et al. 2011 [46]
BRCA2: ENSCAFT00000010309.3rs23250374c.A428Gp.H143RmissenseBENIGN25.742.90.0749Yoshikawa et al. 2008 [47]
rs850935038**c.T1158G**p.C386W**missenseBENIGN20.642.90.0095Yoshikawa et al. 2008 [47]
rs851104585**c.C2144A**p.P715Q**missenseBENIGN001
rs852009320**c.C2154A**p.S718S**synonymousNA001
rs851813778**c.C2183T**p.A728V**missenseBENIGN001
rs851048998**c.A2222G**p.N741S**missenseBENIGN001
rs23244160c.A2401Cp.K801QmissensePOSSIBLY DAMAGING31.214.30.0868Borge et al. 2011 [46]
rs8676219c.A4304Gp.K1435RmissenseBENIGN25.942.90.0758Yoshikawa et al. 2008 [47]
rs397511123c.6918_6920delGTTp.L2307delIn frame deletionNA31.214.30.0868Borge et al. 2011 [46]
rs23255542c.C6930Tp.F2310FsynonymousNA28.942.90.1359Yoshikawa et al. 2008 [47]
rs853007536**c.9995_9996insAAA**p.M3332delinsIK**indelNA20.942.90.0162Yoshikawa et al. 2005 [48]
CDH1: ENSCAFT00000032333.3rs852509306c.387_389delCCAp.129delHIn frame deletionNA18.917.91Borge et al. 2011 [46]
rs397512866c.C945Tp.S315SsynonymousNA12.314.30.7659Borge et al. 2011 [46]
rs851557759c.A2448Gp.E816EsynonymousNA8.63.60.7187
PTEN: ENSCAFT00000024821.3rs397513087c.C909Tp.L303LsynonymousNA3.77.10.2970Borge et al. 2011 [46]
STK11: ENSCAFT00000031055.3c.C109T^p.P37S^missenseUNKNOWN03.60.0654
c.A286G^p.M96V^missenseBENIGN010.70.0003
c.T293C^p.F98S^missenseBENIGN010.70.0003
TP53: ENSCAFT00000026465.3no mutations were found
  1. ** Major allele corresponds to the alternate allele, not the reference allele (based on EVA control data)
  2. ^ P-values for these variants were generated following the assumption that 200 of the control dogs were successfully sequenced in this location, and no mutations were identified