Research Article
Identifying Sequence Variants of 18 Hereditary Ovarian Cancer-Associated Genes in Chinese Epithelial Ovarian Cancer Patients
Table 2
Novel variants identified in participants.
| Gene | Variant | Protein change | Function change | Cadd | Dann | SIFT score pred | POLYPHEN score pred | Mutationtaster score pred | Class | Patient | Diagnosed age |
| BRCA1 | c.2901delT | p.Pro968Glnfs32 | Frameshift | — | — | — | — | — | 4 | P5 | 50 | BRCA1 | c.5439delT | p.Asp1813Glufs21 | Frameshift | — | — | — | — | — | 4 | P58 | 54 | BRCA1 | c.2971_2975del AAAAC | p.Lys991 | Frameshift | — | — | — | — | — | 4 | P85 | 36 | BRCA1 | c.2483del | p.Gly828fs | Frameshift | — | — | — | — | — | 5 | P107 | 49 | BRCA2 | c.3861delT | p.Asn1287LysfsX6 | Frameshift | — | — | — | — | | 4 | P4 | 54 | ATM | c.7084G>C | p.Glu2362Gln | Missense | 3.5636 | 0.998 | D | D | D | 3 | P18 | 54 | BRIP1 | c.168_169insA | p.Leu57Thrfs12 | Frameshift | — | — | — | — | — | 4 | P55 | 47 | NBN | c.1037T>C | p.Val346Ala | Missense | -0.0005 | 0.643 | T | B | N | 3 | P18 | 54 |
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Variants are named according to Human Genome Variation Society (HGVS) nomenclature. SIFT score pred: D: damaging; T: tolerated; POLYPHEN score pred: B: benign; P: possibly damaging; D: probably damaging; MutationTaster score pred: D: disease causing; N: polymorphism.
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