Table 2. Summary of germline mutations, somatic mutations, and methylation of BRCA1, BRCA2 and RAD51C.
Gene, n | |||||
---|---|---|---|---|---|
N Tested | BRCA1 | BRCA2 | RAD51C | Combined HRD | |
Germline deleterious mutation | 899 | 32 | 28 | 26 | 83 |
Somatic deleterious mutation | 279 | 6 | 4 | 0 | 10 |
Methylated | 482 | 45 | - | 7 | 52 |
No deleterious mutation, not methylated | NA | 237 | 261 | 263 | NA |
No deleterious germline mutation, unknown somatic mutation and/or tumor methylation status | NA | 592 | 606 | 604 | NA |
Not methylated, germline and somatic mutation status unknown | NA | 151 | 164 | 163 | NA |
Total | 1063 | 1063 | 1063 | 143 |
Deleterious mutations were frame shift insertion/deletion, splice site, rare missense supported by multiple methods to be damaging; NA, not applicable; one case carried germline deleterious mutations for both BRCA2 and RAD51C, and two patients carried germline deleterious mutations for BRCA1 and RAD51C, thus the combined number of germline deleterious mutation carriers is less than the sum of mutation carriers for each gene; one case carried a RAD51C germline deleterious mutation and methylated for BRCA1 and another case carried a BRCA2 somatic deleterious mutation and methylated for BRCA1, thus the total number of patients with a HRD phenotype is less than the sum of germline mutation carriers and patients with a somatically mutated or methylated gene.