 | | VARIANT: 5889v1 | |
| Entry |
|
| Name |
|
| Type |
Loss of function
|
| Gene |
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
nt06506 Double-strand break repair nt06508 Interstrand crosslink repair |
| Disease |
| H02531 | Familial breast-ovarian cancer |
|
| Reference |
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| Authors |
Thompson ER, Boyle SE, Johnson J, Ryland GL, Sawyer S, Choong DY, kConFab, Chenevix-Trench G, Trainer AH, Lindeman GJ, Mitchell G, James PA, Campbell IG |
| Title |
Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients. |
| Journal |
|
| Reference |
|
| Authors |
Pelttari LM, Heikkinen T, Thompson D, Kallioniemi A, Schleutker J, Holli K, Blomqvist C, Aittomaki K, Butzow R, Nevanlinna H |
| Title |
RAD51C is a susceptibility gene for ovarian cancer. |
| Journal |
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| LinkDB |
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