Table 2.
Clinical data of patients with identified loss-of-function variants
| TruncatingVariant | Other variants identified | Histology | Subtype | Grade | Other cancers in the patient | Metastasis |
|---|---|---|---|---|---|---|
|
BRCA1 c.5266dupC |
– | epithelial | serous | Gx | – | – |
| – | epithelial | clear cell | G2 | – | – | |
| – | epithelial | serous | G2 | – | – | |
| – | epithelial | serous | G2 | – | omental metastases | |
|
BRCA2 c.4043G>C |
epithelial | squamous cell | G3 | cervical cancer; breast cancer | liver metastases | |
| – | epithelial | serous | G4 | breast cancer | – | |
| – | epithelial | serous | Gx | – | vaginal metastases | |
|
BRCA1 c.3700_3704delGTAAA |
ATM c.2149C>T | epithelial | serous | G4 | – | omental and mesenteric metastases |
|
BRCA1 c.3143delG |
PALB2 c.1486G>C |
epithelial | serous | G2 | – | – |
| – | epithelial | serous | G2 | breast cancer | lymph node metastases | |
|
BRCA1 c.4035delA |
– | epithelial | serous | G3 | – | omental metastases |
|
BRCA1 c.181 T > G |
– | epithelial | mucinous | G2/G3 | – | omental metastases |
|
BRCA2 c.3751dupA |
– | epithelial | serous | G2 | – | – |
|
CHEK2 c.1100delC |
ATM c.6028A>G |
epithelial | serous | Gx | – | – |
|
NBN c.429G > A |
– | epithelial | serous | Gx | – | – |
|
MSH6 c.1299 T > G |
BRCA2 c.5624A>C; MUTYH c.985G>A |
epithelial | mixed | G2/G3 | endometrial cancer | – |