HUGO gene symbol | HGVS description of variant | HGMD tag | Sequence ontology | Driver genes | Target | Occurrences in COSMIC by primary sites (gene mutated) |
---|---|---|---|---|---|---|
MSH2 | c.2732T>A | NA | Missense variant | TSG | NA | Cervix(1), large intestine (106), autonomic ganglia (2), central nervous system (2), liver(1), small intestine (1), haematopoietic and lymphoid tissue (7), endometrium (18), urinary tract (1), lung (14), breast (7), skin (4), stomach (1), esophagus (1), ovary (4), NS (2), prostate (2), kidney (6), pancreas (1) |
BRCA1 | c.2955delC | DM | Frameshift deletion | TSG | PARP inhibitor | Cervix (1), large intestine (66), stomach (8), central nervous system (2), pancreas (1), meninges (1), haematopoietic and lymphoid tissue (3), endometrium (23), urinary tract (5), lung (42), liver (5), skin (6), oesophagus (4), ovary (39), NS (2); prostate (2), kidney (5), breast (33) |