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Editorial
. 2014 Aug 7;371(6):566-8.
doi: 10.1056/NEJMe1405784.

PALB2 mutations and breast-cancer risk

Michele K Evans  1 , Dan L Longo
Affiliations
Editorial

PALB2 mutations and breast-cancer risk

Michele K Evans et al. N Engl J Med. .
No abstract available

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Figures

Figure 1
Figure 1. DNA-Repair Pathways
DNA damage from exogenous or endogenous sources may be repaired by a variety of DNA damage-response and damage-repair pathways, depending on the type of DNA damage induced. Interstrand cross-link repair, the single-strand-break repair subpathway of base excision repair, and homologous recombination address specific forms of damage with different, but in some cases common, proteins. The final step of interstrand cross-link repair involves homologous recombination. APE1 denotes apurinic-apirimidinic endonuclease 1; ATM ataxia telangiectasia mutated; ATR serine–threonine kinase; BLM Bloom’s syndrome, RecQ helicase–like; BRCA1 breast cancer 1, early onset; BRCA2 breast cancer 2, early onset; BRIP1 BRCA1-interacting protein C-terminal helicase 1; CtlP retinoblastoma binding protein 8; DNA2 DNA replication helicase/nuclease 2; ERCC1 excision repair cross-complementation group 1; EXO1 exonuclease 1; FANC core complex Fanconi’s anemia core complex; FANCM Fanconi’s anemia, complementation group M; FANCD2 Fanconi’s anemia, complementation group D2; FANCl Fanconi’s anemia, complementation group l; FANCJ Fanconi’s anemia, complementation group J; FEN-1 flap structure–specific endonuclease 1;·γ-H2AX phosphorylation of histone H2AX on serine 139; Lig I DNA ligase I; Lig III DNA ligase III; PALB2 partner and localizer of BRCA2; PARP1 poly(ADP-ribose) polymerase 1; PCNA proliferating-cell nuclear antigen; PNK polynucleotide kinase; Polδ/ɛ DNA polymerase δ/DNA polymerase ɛ; Polβ DNA polymerase β; RAD51 RAD51 recombinase; RPA replication protein A; TOPO IIIα DNA topoisomerase IIIα; XPF xeroderma pigmentosum, complementation group F; and XRCC1 x-ray repair complementing defective repair in Chinese hamster cells 1. The MRN complex is made up of Mre11, Rad50, and Nibrin.
See this image and copyright information in PMC

Comment on

  • Breast-cancer risk in families with mutations in PALB2.
    Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, Lee A, Subramanian D, De Leeneer K, Fostira F, Tomiak E, Neuhausen SL, Teo ZL, Khan S, Aittomäki K, Moilanen JS, Turnbull C, Seal S, Mannermaa A, Kallioniemi A, Lindeman GJ, Buys SS, Andrulis IL, Radice P, Tondini C, Manoukian S, Toland AE, Miron P, Weitzel JN, Domchek SM, Poppe B, Claes KB, Yannoukakos D, Concannon P, Bernstein JL, James PA, Easton DF, Goldgar DE, Hopper JL, Rahman N, Peterlongo P, Nevanlinna H, King MC, Couch FJ, Southey MC, Winqvist R, Foulkes WD, Tischkowitz M. Antoniou AC, et al. N Engl J Med. 2014 Aug 7;371(6):497-506. doi: 10.1056/NEJMoa1400382. N Engl J Med. 2014. PMID: 25099575 Free PMC article.

References

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    1. Antoniou AC, Casadei S, Heikkinen T, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371:497–506. - PMC - PubMed
    1. Zheng Y, Zhang J, Niu Q, Huo D, Olopade OI. Novel germline PALB2 truncating mutations in African American breast cancer patients. Cancer. 2012;118:1362–70. - PMC - PubMed

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