Table 1.
Pathogenic/likely pathogenic variants identified
| ID | Diagnosis (Age) | BC | OC | Gene | Function | cDNA variant ‐ HGVS | Protein level | ACMG‐ | ClinVar | Transcript | gnomAD | gnomAD | ABraOM |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FH | FH | AMP | (all) | (NF) | |||||||||
| 29 | Ovarian (42), Breast (53) | Yes | Yes | KRAS | tumor‐associated | c.461A>G | p.(Asp154Gly) | LP | NR | NM_004985.4 | 0.000003 | 0.000000 | NR |
| 65 | Breast (36) | Yes | No | LCP1 | tumor‐associated | c.1122C>A | p.(Tyr374*) | P | NR | NM_002298.4 | NR | NR | NR |
| 85 | Breast (51) | Yes | No | MLH1 | MMR/FA | c.794G>A | p.(Arg265His) | LP | CI | NM_000249.4 | 0.000047 | 0.000070 | NR |
| 133 | Breast (46) | Yes | Yes | DROSHA | tumor‐associated | c.1498G>T | p.(Glu500*) | P | NR | NM_013235.4 | NR | NR | NR |
| 306 | Melanoma (26), Breast (36) | Yes | No | PMS2 | MMR | c.2182_2184delACTinsG | p.(Thr728fs) | P | P | NM_000535.7 | 0.000180 | 0.000155 | 0.006061 |
| 344 | Ovarian (47) | No | Yes | PLK2 | tumor‐associated | c.1004dupT | p.(Leu335fs) | P | NR | NM_006622.3 | NR | NR | NR |
| VRK1 | tumor‐associated | c.683C>T | p.(Thr228Met) | LP | VUS | NM_003384.2 | 0.000055 | 0.000087 | NR | ||||
| 563 | Breast (39) | Yes | No | CTNNA1 | tumor‐associated | c.1206_1207insCC | p.(Val403fs) | P | NR | NM_001290307.2 | NR | NR | NR |
| MITF | tumor‐associated | c.1A>G | p.(Met1?) | LP | NR | NM_000248.3 | NR | NR | NR | ||||
| 565 | Ovarian (43) | No | Yes | SLC34A2 | tumor‐associated | c.113‐2A>G | . | LP | NR | NM_006424.2 | 0.000031 | 0.000008 | NR |
| BCAR1 | tumor‐associated | c.12+2T>C | . | LP | NR | NM_014567.4 | 0.003987 | 0.001507 | 0.008079 | ||||
| 633 | Bilateral Breast (38) | Yes | No | HERPUD1 | tumor‐associated | c.584_585delTT | p.(Phe195fs) | P | NR | NM_014685.4 | 0.001551 | NR | 0.004105 |
| 656 | Ovarian (41), Breast (48) | No | Yes | RAD51C | HR/FA | c.890_899delTTGTTCCTGC | p.(Leu297fs) | P | P | NM_058216.3 | NR | NR | NR |
| 695 | Ovarian (21) | Yes | No | CHEK2 | HR | c.538C>T | p.(Arg180Cys) | LP | CI | NM_007194.4 | 0.000999 | 0.001316 | NR |
| 974 | Breast (46) | Yes | No | MUTYH | BER | c.1147delC | p.(Ala385fs) | LP | CI | NM_001048171.2 | NR | NR | NR |
| 1055 | Ovarian (57) | Yes | No | RIPK1 | tumor‐associated | c.1802_1805delGTGC | p.(Cys601fs) | P | NR | NM_003804.3 | NR | NR | NR |
| PTCH1 | tumor‐associated | c.1A>G | p.(Met1?) | P | NR | NM_001083607.1 | 0.000008 | 0.000000 | NR | ||||
| 1097 | Bilateral Ovarian (46) | Yes | No | CTNNA2 | tumor‐associated | c.103‐1G>A | . | P | NR | NM_001282597.2 | 0.016465 | 0.000512 | NR |
| 1294 | Breast (26) | Yes | No | HERPUD1 | tumor‐associated | c.584_585delTT | p.(Phe195fs) | P | NR | NM_014685.3 | 0.001551 | NR | 0.004105 |
| 1326 | Breast (35) | Yes | No | CHEK2 | HR | c.349A>G | p.(Arg117Gly) | LP | P/LP | NM_145862.2 | 0.000117 | 0.000188 | 0.000821 |
Abbreviations: BC, breast cancer; BER, base excision repair; CI, conflicting interpretations; FA, Fanconi anemia; FH, family history; HR, homologous recombination; LP, likely pathogenic; MMR, mismatch repair; NF, non‐Finish; NR, not reported; OC, ovarian cancer; P, pathogenic.