KEGG   VARIANT: 5889v1
Entry
5889v1                      Variant                                
Name
RAD51C mutation
Type
Loss of function
Gene
RAD51C  RAD51 paralog C [KO:K10870]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602774
Network
nt06506  Double-strand break repair
nt06508  Interstrand crosslink repair
Disease
H00238  Fanconi anemia
H02531  Familial breast-ovarian cancer
Reference
  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
Hum Mutat 33:95-9 (2012)
DOI:10.1002/humu.21625
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
Hum Mol Genet 20:3278-88 (2011)
DOI:10.1093/hmg/ddr229
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