Table 3. Identified HRR-related gene mutations.
| Case | Gene | Mutation | Function | COSMIC ID | dbSNP ID | Germline test | ExAC | ExAc East Asian |
HGVD |
|---|---|---|---|---|---|---|---|---|---|
| 10 | ATR | I774fs | Inactivating mutation | 1617015 | Not reported | negative | Not reported | Not reported | Not reported |
| ATM | L2005V | VUS | Not reported | Not reported | positive | Not reported | Not reported | Not reported | |
| BRCA2 | I1929V | VUS | Not reported | rs79538375 | positive | 9.6e-04 | 9.8e-03 | Not reported | |
| 11 | ATM | R2034X | Inactivating mutation | 922732 | rs532480170 | - | 1.7e-05 | 0 | Not reported |
| ATM | L2426I | VUS | Not reported | Not reported | - | Not reported | Not reported | Not reported | |
| BRCA1 | L52F | VUS | Not reported | rs80357084 | - | 1.3e-04 | 1.8e-03 | 2.5e-03 | |
| 12 | BRCA2 | S1989fs | Inactivating mutation | Not reported | rs80359552 | - | Not reported | Not reported | Not reported |
| BRCA2 | N2436I | VUS | Not reported | rs80358955 | - | 8.2e-06 | 0 | 2.1e-03 | |
| CHEK2 | R474C | Inactivating mutation | Not reported | rs540635787 | - | 8.8e-06 | 1.2e-04 | Not reported | |
| 13 | ATM | R1618X | Inactivating mutation | 1350875 | Not reported | positive | Not reported | Not reported | Not reported |
| 14 | BRCA2 | Q3026X | Inactivating mutation | 3468418 | rs80359159 | - | 1.7e-05 | 0 | Not reported |
| 15 | ATM | L1700fs | Inactivating mutation | Not reported | Not reported | - | Not reported | Not reported | Not reported |
| 16 | PALB2 | splice site 3350+5G>A | VUS | Not reported | rs587782566 | positive | Not reported | Not reported | Not reported |
| BRCA2 | A2351G | VUS | Not reported | rs80358932 | positive | 1.3e-04 | 1.7e-03 | 1.2e-03 | |
| 17 | BRCA1 | R1443X | Inactivating mutation | 979730 | rs41293455 | - | 1.6e-05 | 0 | Not reported |
| 24 | BRCA2 | S871X | Inactivating mutation | Not reported | rs397507634 | negative | Not reported | Not reported | Not reported |
| BRCA2 | splice site 7977-2A>T | Inactivating mutation | Not reported | rs276174899 | negative | Not reported | Not reported | Not reported | |
| BRCA2 | V2503I | VUS | Not reported | rs587782191 | negative | 8.2e-06 | Not reported | 4.2e-04 | |
| ATM | R2691C | VUS | 922745 | rs531980488 | negative | 1.1e-04 | 7.0e-04 | Not reported | |
| 25 | ATM | V1038X | Inactivating mutation | Not reported | Not reported | - | Not reported | Not reported | Not reported |
| 26 | BRCA2 | R2318X | Inactivating mutation | Not reported | rs80358920 | - | Not reported | Not reported | Not reported |
| 27 | BRCA2 | I1929V | VUS | Not reported | rs79538375 | - | 9.6e-04 | 9.8e-03 | 0.012 |
| ATM | V2951I | VUS | Not reported | Not reported | - | Not reported | Not reported | Not reported | |
| 28 | CHEK2 | splice site 1591-1G>A | VUS | Not reported | Not reported | - | Not reported | Not reported | Not reported |
VUS, variant of unknown significance; ExAC, Exome Aggregation Consortium; HGVD, Human Genetic Variation Database.