Table 3.
Gene (Reference sequences) | Variant nomenclature | Variant classification | Cancers diagnosed in the patient |
---|---|---|---|
APC | c.1A > G, p.Met1Val | Start loss | Ovary |
BRCA2 | c.8954-5_8954-2delAACA | Splice variant | Ovary |
c.7617 + 2dupT | Splice variant | Primary Peritoneal | |
MSH2 | c.792 + 3A > T | Splice variant | Breast |
RECQL | c.2 T > C, p.Met1Thr | Start loss | Breast |
RECQL | c.2 T > C, p.Met1Thr | Start loss | Breast |
RAD51C | c.571 + 5G > A | Splice variant | Breast |
XRCC2 |
c.832G > T, p.Glu278* | Stop gain | Breast |