Article
Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.
British journal of cancer - 12 Apr 2011
Osorio A, Milne R L, Alonso R, Pita G, Peterlongo P, Teulé A, Nathanson K L, Domchek S M, Rebbeck T, Lasa A, Konstantopoulou I, Hogervorst F B, Verhoef S, van Dooren M F, Jager A, Ausems M G E M, Aalfs C M, van Asperen C J, Vreeswijk M, Waisfisz Q, Van Roozendaal C E, Ligtenberg M J, Easton D F, Peock S, Cook M, Oliver C T, Frost D, Curzon B, Evans D G, Lalloo F, Eeles R, Izatt L, Davidson R, Adlard J, Eccles D, Ong K-r, Douglas F, Downing S, Brewer C, Walker L, Nevanlinna H, Aittomäki K, Couch F J, Fredericksen Z, Lindor N M, Godwin A, Isaacs C, Caligo M A, Loman N, Jernström H, Barbany-Bustinza G, Liljegren A, Ehrencrona H, Stenmark-Askmalm M, Feliubadaló L, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Fortuzzi S, Johannsson O T, Chenevix-Trench G, Chen X-C, Beesley J, Spurdle A B, Sinilnikova O M, Healey S, McGuffog L, Antoniou A C, Brunet J, Radice P, Benítez J
Abstract excerpt
BACKGROUND: Single-nucleotide polymorphisms (SNPs) in genes involved in DNA repair are good candidates to be tested as phenotypic modifiers for carriers of mutations in the high-risk susceptibility genes BRCA1 and BRCA2. The base excision repair (BER) pathway could be particularly interesting given the relation of synthetic lethality that exists between one of the components of the pathway, PARP1, and both BRCA1...
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