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
- Osorio, A.
- Milne, R.L.
- Alonso, R.
- Pita, G.
- Peterlongo, P.
- Teule, A.
- Nathanson, K.L.
- Domchek, S.M.
- Rebbeck, T.
- Lasa, A.
- Konstantopoulou, I.
- Hogervorst, F.B.L.
- Verhoef, S.
- Dooren, M.F. van
- Jager, A.
- Ausems, M.G.
- Aalfs, C.M.
- Asperen, C.J. van
- Vreeswijk, M.
- Waisfisz, Q.
- Roozendaal, C.E.P. van
- Ligtenberg, M.J.L.
- 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.
- Aittomaki, K.
- Couch, F.J.
- Fredericksen, Z.
- Lindor, N.M.
- Godwin, A.
- Isaacs, C.
- Caligo, M.A.
- Loman, N.
- Jernstrom, H.
- Barbany-Bustinza, G.
- Liljegren, A.
- Ehrencrona, H.
- Stenmark-Askmalm, M.
- Feliubadalo, 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.
- Benitez, J.
DOIAbstract
Item does not contain fulltextBACKGROUND: 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 and BRCA2. In this study, we have evaluated the XRCC1 gene that participates in the BER pathway, as phenotypic modifier of BRCA1 and BRCA2. METHODS: Three common SNPs in the gene, c.-77C>T (rs3213245) p.Arg280His (rs25489) and p.Gln399Arg (rs25487) were analysed in a series of 701 BRCA1 and 576 BRCA2 mu...
Add to ORKG