KEGG   VARIANT: 672v1
Entry
672v1                      Variant                                 
Name
BRCA1 mutation
Type
Loss of function
Gene
BRCA1  BRCA1 DNA repair associated [KO:K10605]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 113705
Network
nt06506  Double-strand break repair
nt06508  Interstrand crosslink repair
Disease
H00019  Pancreatic cancer
H00031  Breast cancer
H00238  Fanconi anemia
H02531  Familial breast-ovarian cancer
Reference
PMID:7894492
  Authors
Simard J, Tonin P, Durocher F, Morgan K, Rommens J, Gingras S, Samson C, Leblanc JF, Belanger C, Dion F, et al.
  Title
Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families.
  Journal
Nat Genet 8:392-8 (1994)
DOI:10.1038/ng1294-392
Reference
PMID:32094664
  Authors
Tarsounas M, Sung P
  Title
The antitumorigenic roles of BRCA1-BARD1 in DNA repair and replication.
  Journal
Nat Rev Mol Cell Biol 21:284-299 (2020)
DOI:10.1038/s41580-020-0218-z
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