KEGG   VARIANT: 580v1
Entry
580v1                      Variant                                 
Name
BARD1 mutation
Type
Loss of function
Gene
BARD1  BRCA1 associated RING domain 1 [KO:K10683]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601593
Network
nt06506  Double-strand break repair
nt06508  Interstrand crosslink repair
Disease
H00031  Breast cancer
Reference
PMID:15342711
  Authors
Karppinen SM, Heikkinen K, Rapakko K, Winqvist R
  Title
Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer.
  Journal
J Med Genet 41:e114 (2004)
DOI:10.1136/jmg.2004.020669
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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