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KEGG   VARIANT: 675v1
Entry
675v1                      Variant                                 
Name
BRCA2 mutation
Gene
BRCA2  BRCA2 DNA repair associated [KO:K08775]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600185
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:8524414
  Authors
Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G
  Title
Identification of the breast cancer susceptibility gene BRCA2.
  Journal
Nature 378:789-92 (1995)
DOI:10.1038/378789a0
Reference
  Authors
Casilli F, Tournier I, Sinilnikova OM, Coulet F, Soubrier F, Houdayer C, Hardouin A, Berthet P, Sobol H, Bourdon V, Muller D, Fricker JP, Capoulade-Metay C, Chompret A, Nogues C, Mazoyer S, Chappuis P, Maillet P, Philippe C, Lortholary A, Gesta P, Bezieau S, Toulas C, Gladieff L, Maugard CM, Provencher DM, Dugast C, Delvincourt C, Nguyen TD, Faivre L, Bonadona V, Frebourg T, Lidereau R, Stoppa-Lyonnet D, Tosi M
  Title
The contribution of germline rearrangements to the spectrum of BRCA2 mutations.
  Journal
J Med Genet 43:e49 (2006)
DOI:10.1136/jmg.2005.040212
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