| Gene | Variant | RefSNP | Proband | MBC Patient | Functional Relevance |
| BRCA1 | p.Pro871Leu (c.2612C > T) | - | CT | CT | Associated with increased BRCA1 expression |
|
| p.Cys64Arg (c.190T > C) | - | TT | TT | Prevents BRCA1-BARD1 binding |
|
| 130delT | - | WT | WT | Premature stop codon at AA residue 409 |
|
| p.G1738R (g.5331G > A) | - | GG | GG | Destabilizes protein folding |
| TP53 | p.R72P | rs1042522 | RP | RP | Plays role in apoptosis |
|
| PIN3 Ins 16bp | rs17878362 | A1A2 | A1A1 | Affects function and expression of p53 |
|
| p.P47S | rs1800371 | PP | PP | Plays role in apoptosis |
|
| p.R213R | rs1800372 | AA | AA | Role in activity of protein |
|
| r.13494g > a | rs1625895 | GA | GG | Affects function and expression of p53 |
| VEGF | −2549I/D | rs35569394 | ID | II | D allele associated with increased transcriptional activity |
|
| −2578C/A | rs699947 | CA | AA | Alters the binding of GATA-2 transcription factor |
|
| +936C/T | rs3025039 | CC | CT | Alters binding of transcription factor activating enhancer binding protein |
|
| −417C/T | rs833062 | TT | TT | - |
|
| −172C/A | rs59260042 | CC | CC | Associated with ↑ VEGF m-RNA level |
|
| −165C/T | rs79469752 | CC | CC | - |
|
| −160C/T | - | CC | CC | - |
|
| −152G/A | rs13207351 | GA | AA | - |
|
| −141A/C | rs28357093 | AA | AA | - |
|
| −116G/A | rs1570360 | GA | AA | A allele associated with reduced plasma VEGF level |
|
| −7C/T | rs25648 | CC | CC | - |
| HIF1A | g.C1772T | rs11549465 | CC | CT | Associated with higher transcriptional activities and enhanced angiogenesis |
|
| g.G1790A | rs11549467 | GG | GG | |
|
| g.C111A | - | CC | CC | |
| MDM2 | SNP309T > G | rs2279744 | GG | GG | Associated with enhanced MDM2 expression and attenuates function of TP53 protein |
| VEGFR1 (FLT1) | −710C/T | - | CC | CC | - |