Table 1.
Reported canine germline coding variants in orthologs of known or candidate BC susceptibility genes
| Gene | rs§ | Nomenclature | Reference | ||
|---|---|---|---|---|---|
| Genomic* | mRNA† | Protein‡ | |||
| BRCA1 | rs397510981 | chr9:g.19985060 | c.723A>G§ | p.K241K | (Enginler et al. 2014) |
| rs397512112 | chr9:g.19985075 | c.738T>A§ | p.T246T | (Enginler et al. 2014) | |
| rs397509570 | chr9:g.19988291 | c.3954G>A | p.S1318S | (Borge et al. 2011) | |
| BRCA2 | rs23250374 | chr25:g.7787056 | c.428A>G∥ | p.H143R | (Borge et al. 2011) |
| rs23244160 | chr25:g.7775050 | c.2401A>C | p.K801Q | (Borge et al. 2011) | |
| – | – | c.2414G>A*** | p.R805L | (Hsu et al. 2010) | |
| rs397511123 | chr25:g.7768691_7768693 | c.6918_6920delGTT | p.L2307del | (Borge et al. 2011; Enginler et al. 2014) | |
| rs23255542 | chr25:g.7768681 | c.6930C>T§ | p.F2310F | (Rowell et al. 2011; Enginler et al. 2014) | |
| rs397509895 | chr25:g.7747589 | c.9138A>G¶ | p.L3046L | (Enginler et al. 2014) | |
| – | chr25:g.7747332 | c.9308A>G | p.K3103R | (Borge et al. 2011; Enginler et al. 2014) | |
| rs397510884 | chr25:g.7735440 | c.9968G>A | p.S3323N | (Enginler et al. 2014) | |
| rs853007536 | chr25:g.7735654 | c.9995_9996insAAA** | p.M3332delinsIK | (Yoshikawa et al. 2005; Borge et al. 2011; Enginler et al. 2014) | |
| BRIP | rs397511741 | chr9:g.34983082 | c.3029G>A | p.R1010H | (Borge et al. 2011) |
| rs397512960 | chr9:g.34983223 | c.3170C>T | p.P1057L | (Borge et al. 2011) | |
| CDH1 | – | chr5:g.80784440_80784442 | c.387_389delCCA | p.H129del | (Borge et al. 2011) |
| rs397512866 | chr5:g.80776897 | c.945C>T | p.S315S | (Borge et al. 2011) | |
| EGFR | rs9206306 | chr18:g.5996046 | c.677G>A | p.R226Q | (Borge et al. 2011) |
| rs397513721 | chr18:g.5996076 | c.707C>T∥ | p.P236L | (Borge et al. 2011) | |
| HER2 (ERBB2) | rs397510212 | chr9:g.22773443 | c.1105A>G∥ | p.K369E | (Borge et al. 2011) |
| rs24616607 | chr9:g.22770524 | c.1575G>C | p.P525P | (Borge et al. 2011) | |
| rs24537329 | chr9:g.22770473 | c.1626A>G | p.E542E | (Borge et al. 2011) | |
| rs24537331 | chr9:g.22770288 | c.1728C>T | p.C576C | (Borge et al. 2011) | |
| rs397510076 | chr9:g.22766833 | c.1905G>A | p.A635A | (Borge et al. 2011) | |
| rs397512599 | chr9:g.22763063 | c.2769T>C | p.Y923Y | (Borge et al. 2011) | |
| rs397512289 | chr9:g.22761328 | c.3486G>A | p.P1162P | (Borge et al. 2011) | |
| rs397510013 | chr9:g.22761055 | c.3759C>T | p.Y1253Y | (Borge et al. 2011) | |
| ESR1 | rs21960513 | chr1:g.42131190 | c.627T>C | p.F209F | (Borge et al. 2011) |
| rs397512038 | chr1:g.42208686 | c.979A>G | p.I327V | (Borge et al. 2011) | |
| rs397512133 | chr1:g.42364093 | c.1578G>A | p.L526L | (Borge et al. 2011) | |
| PTEN | – | chr26:g.37910150 | c.975C>T | p.L325L | (Borge et al. 2011) |
| TP53 | – | chr5:g.32564669 | c.206C>T∥ | p.P69L | (Veldhoen et al. 1999) |
| – | chr5:g.32564760_32562912 | Germline deletion of exons 3‐7∥ | (Veldhoen et al. 1999) | ||
*Genome build: Broad CanFam3.1/canFam3 (Dog Assembly. Sept. 2011). † Nucleotide accession numbers: BRCA1: NM_001013416.1, BRCA2: NM_001006653.4, BRIP: XM_847556.4, CDH1: NM_001287125.1, EGFR: ENSCAFT00000005575.3, HER2: NM_001003217.2, ESR1: NM_001286958.1, PTEN: NM_001003192, TP53: NM_000546.5. ‡ Protein accession numbers: BRCA1: NP_001013434, BRCA2: NP_001006654, BRIP: ENSCAFT00000045493.2, CDH1: NP_001274054.1, EGFR: ENSCAFT00000005575.3, HER2: NP_001003217, ESR1: NP_001273887.1, PTEN: NP_001003192, TP53: NP_001003210. §variants found only in CMT‐affected dogs. ¶claimed to be associated with CMT. ∥predicted to be pathogenic in respective papers. **variant was initially suspected pathogenic but is now considered neutral. ***variant is named as reported in Hsu et al.; due to lack of information presented, locating this variant within NM_001006653 and Broad CanFam3.1/canFam3 was not possible.