Skip to main content

Table 4 Significant breed-specific P-values for nonsynonmous variants

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 (%)CMT Cohort
Total CohortBreed Specific
DalmatianGolden RetrieverSiberian HuskyStandard Schnauzer
MAF (%)P-valueMAF (%)P-valueMAF (%)P-valueMAF (%)P-valueMAF (%)P-value
BRCA2: ENSCAFT00000010309.3rs23250374c.A428Gp.H143RmissenseBENIGN25.742.90.074933.30.6506700.004800.3447500.1847
rs850935038**c.T1158G**p.C386W**missenseBENIGN20.642.90.0095500.1107100.694883.30.0096500.1107
rs853007536**c.9995_9996insAAA**p.M3332delinsIK**indelNA20.942.90.01621500.1136100.69583.30.0006500.1136
STK11: ENSCAFT00000031055.3c.C109T^p.P37S^missenseUNKNOWN03.60.065416.70.0148010101
c.A286G^p.M96V^missenseBENIGN010.70.0003010133.30.000216.70.0148
c.T293C^p.F98S^missenseBENIGN010.70.0003010133.30.000216.70.0148
  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