Table I.
MUTYH and OGG1 germline variants identified in 59 patients with breast and ovarian cancer.
| A, MUTYH | |||||||
|---|---|---|---|---|---|---|---|
| Frequency n (%) | |||||||
| Nucleotide change(s) | Effect | SNP | Clinical significancea | Cases (n=59) | Controls (n=120) | Word population MAFb | Mutpred value |
| c.36+11C>T | - | rs2275602 | VUS | 1 (1.7) | 0 (0) | 0.01 | - |
| c.53C>T | Pro18Leu | rs79777494 | VUS | 1 (1.7) | 0 (0) | <0.01 | - |
| c.64G>A | Val22Met | rs3219484 | N | 2 (3.4) | - | 0.02 | - |
| c.74G>A | Gly25Asp | rs75321043 | VUS | 1 (1.7) | 0 (0) | <0.01 | - |
| c.157+30A>G | - | rs3219485 | N | 2 (3.4) | - | 0.01 | - |
| c.504+35A>G | - | rs3219487 | N | 8 (13.6) | - | 0.06 | - |
| c.701T>A | Val234Gly | - | D/Novel | 1 (1.7) | 0 (0) | - | 0.798 |
| c.1014 G>C | Gln338His | rs3219489 | N | 19(32) | - | 0.31 | - |
| c.1171 G>T | Val390Leu | - | Novel | 1 (1.7) | 0 (0) | - | 0.335 |
| c.1431G>C | Thr477Thr | rs74318065 | N | 1 (1.7) | 0 (0) | 0.01 | - |
| c.1477-40C>G | - | rs3219493 | N | 5 (8.5) | - | 0.06 | - |
| B, OGG1 | |||||||
| Frequency n (%) | |||||||
| Nucleotide change(s) | Effect | SNP | Clinical significancea | Cases (n=59) | Controls (n=120) | Word population MAFb | Mutpred value |
| c.137 G>A | Arg46Gln | rs104893751 | D | 1 (1.7) | 0 (0) | <0.01 | - |
| c.253G>A | Ala85Thr | rs17050550 | VUS | 1 (1.7) | 0 (0) | <0.01 | - |
| c.384 G>A | Gln128Gln | - | Novel | 1 (1.7) | 0 (0) | - | - |
| c.667G>A | Ala223Thr | - | Novel | 1 (1.7) | 0 (0) | - | 0.095 |
| c.899G>A | Gly300Glu | rs548981683 | VUS | 1 (1.7) | 0 (0) | <0.01 | - |
| c.923 G>A | Gly308Glu | rs113561019 | VUS | 1 (1.7) | 0 (0) | <0.01 | - |
| c.977 C>G | Ser326Cys | rs1052133 | N | 23(39) | - | 0.30 | - |
aResults based on the ClinVar-NCBI database.
bResults based on Ensembl genome browser 9. The pathogenicity of novel missense mutations was predicted using MutPred2 with a cut-off value of 0.61. D, deleterious; N, most likely neutral; VUS, variant of unknown clinical significance; SNP, single polymorphic nucleotide; MAF, minor allele frequency.