Table 1.
RAD51C cancer variants analyzed in this study
| Variant | Cancer type | Allele origin |
|---|---|---|
| Q11R* | Epithelial ovarian cancer | Germline# |
| P21A* | Breast carcinoma | Somatic# |
| P21S | Breast carcinoma | Somatic# |
| K26M* | Epithelial ovarian and breast cancer | Germline# |
| L27P | Epithelial ovarian cancer | Germline# |
| A30E | Breast cancer | Germline |
| P43S | Epithelial ovarian cancer | Germline# |
| L91F | Epithelial ovarian cancer | Germline# |
| F103V | Bilateral breast cancer | Germline# |
| D108Y | Colorectal adenocarcinoma | Somatic |
| G112V | Epithelial ovarian cancer | Germline# |
| G113S | Breast invasive ductal carcinoma | Somatic |
| T121R | Ovarian cancer | Somatic |
| G125V | Breast cancer (pathogenic) | Germline# |
| A126T* | Breast and ovarian cancer, melanoma (benign) | Germline# |
| G130A | Breast cancer | Somatic# |
| T132P | Ovarian cancer (likely pathogenic) | Germline# |
| Q133K | Epithelial ovarian cancer | Germline# |
| C135R | Breast cancer | Germline |
| C135Y | Breast and ovarian cancer | Germline |
| M136L* | Lung adenocarcinoma | Somatic# |
| L138F* | Breast and ovarian cancer (pathogenic) | Germline# |
| V140G* | Epithelial ovarian cancer | Germline |
| Q143R* | Breast cancer (uncertain) | Germline# |
| I144T* | Epithelial ovarian cancer | Germline# |
| G153D* | Breast cancer | Germline# |
| G153S | Liver cancer | Somatic |
| D159N | Breast cancer (conflicting) | Germline# |
| G162E* | Breast and ovarian cancer | Germline# |
| G162R | Malignant melanoma | Somatic |
| R212C* | Lung and uterine endometrioid carcinoma | Somatic# |
| R214C* | Colon adenocarcinoma | Somatic# |
| L219S* | Breast and ovarian cancer (conflicting) | Germline# |
| Y224H | Bladder urothelial carcinoma | Somatic |
| L226P | Epithelial ovarian cancer | Germline# |
| P247L | Malignant melanoma | Somatic# |
| R249C* | Breast cancer, cutaneous melanoma, duodenal adenocarcinoma | Somatic# |
| R249H* | Epithelial ovarian cancer | Germline# |
| L257V* | Liver cancer | Somatic# |
| R258H* | Colon and prostate carcinoma, GBM (pathogenic) | Somatic# |
| R260W* | Prostate adenocarcinoma | Somatic# |
| L262V* | Epithelial ovarian cancer | Germline# |
| A279V | Endometrioid carcinoma | Somatic |
| T287A* | Breast and ovarian cancer (benign) | Germline# |
| R312W* | Ovarian and large intestine carcinoma (conflicting) | Germline, somatic# |
| D318E | Breast carcinoma | Somatic |
| A324T | Colorectal adenocarcinoma | Somatic# |
| P330H | Urinary tract carcinoma | Somatic |
| T336P* | Epithelial ovarian cancer | Germline# |
| E360Q | Invasive breast carcinoma | Somatic |
| R366Q* | Breast and ovarian cancer (uncertain) | Germline# |
Sources of the cancer variants are indicated in SI Appendix, Table S1. An asterisk indicates the variant was also identified in populations (Table 2). R258H was also identified as a biallelic germ line mutation in Fanconi anemia–like syndrome. Variants also found in ClinVar, which are all germline, are indicated with a “#". The clinical significance notation from ClinVar is indicated in parentheses for the 10 variants with previous functional characterization. The rest of the variants that are in ClinVar are listed as uncertain significance, except for C135Y, which is listed as likely pathogenic, and L219S and R312W, which are listed as conflicting interpretations of pathogenicity.