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

A Osorio, R L Milne, R Alonso, G Pita, P Peterlongo, A Teulé, K L Nathanson, S M Domchek, T Rebbeck, A Lasa, I Konstantopoulou, F B Hogervorst, S Verhoef, M F van Dooren, A Jager, M G E M Ausems, C M Aalfs, C J van Asperen, M Vreeswijk, Q WaisfiszC E Van Roozendaal, M J Ligtenberg, D F Easton, S Peock, M Cook, C T Oliver, D Frost, B Curzon, D G Evans, F Lalloo, R Eeles, L Izatt, R Davidson, J Adlard, D Eccles, K-r Ong, F Douglas, S Downing, C Brewer, L Walker, H Nevanlinna, K Aittomäki, F J Couch, Z Fredericksen, N M Lindor, A Godwin, C Isaacs, M A Caligo, N Loman, HEBON, Zosia Miedzybrodzka

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Abstract

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.
Original languageEnglish
Pages (from-to)1356-1361
Number of pages6
JournalBritish Journal of Cancer
Volume104
Issue number8
Early online date22 Mar 2011
DOIs
Publication statusPublished - 12 Apr 2011

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DNA Repair
Research Personnel
Mutation
BRCA2 Gene
BRCA1 Gene
Genes
Single Nucleotide Polymorphism
Synthetic Lethal Mutations

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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; 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; HEBON ; Miedzybrodzka, Zosia.

In: British Journal of Cancer, Vol. 104, No. 8, 12.04.2011, p. 1356-1361.

Research output: Contribution to journalArticle

Osorio, A, Milne, RL, Alonso, R, Pita, G, Peterlongo, P, Teulé, A, Nathanson, KL, Domchek, SM, Rebbeck, T, Lasa, A, Konstantopoulou, I, Hogervorst, FB, Verhoef, S, van Dooren, MF, Jager, A, Ausems, MGEM, Aalfs, CM, van Asperen, CJ, Vreeswijk, M, Waisfisz, Q, Van Roozendaal, CE, Ligtenberg, MJ, Easton, DF, Peock, S, Cook, M, Oliver, CT, Frost, D, Curzon, B, Evans, DG, Lalloo, F, Eeles, R, Izatt, L, Davidson, R, Adlard, J, Eccles, D, Ong, K, Douglas, F, Downing, S, Brewer, C, Walker, L, Nevanlinna, H, Aittomäki, K, Couch, FJ, Fredericksen, Z, Lindor, NM, Godwin, A, Isaacs, C, Caligo, MA, Loman, N, HEBON & Miedzybrodzka, Z 2011, '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, vol. 104, no. 8, pp. 1356-1361. https://doi.org/10.1038/bjc.2011.91
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 ; HEBON ; Miedzybrodzka, Zosia. / 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. In: British Journal of Cancer. 2011 ; Vol. 104, No. 8. pp. 1356-1361.
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AU - Osorio, A

AU - Milne, R L

AU - Alonso, R

AU - Pita, G

AU - Peterlongo, P

AU - Teulé, A

AU - Nathanson, K L

AU - Domchek, S M

AU - Rebbeck, T

AU - Lasa, A

AU - Konstantopoulou, I

AU - Hogervorst, F B

AU - Verhoef, S

AU - van Dooren, M F

AU - Jager, A

AU - Ausems, M G E M

AU - Aalfs, C M

AU - van Asperen, C J

AU - Vreeswijk, M

AU - Waisfisz, Q

AU - Van Roozendaal, C E

AU - Ligtenberg, M J

AU - Easton, D F

AU - Peock, S

AU - Cook, M

AU - Oliver, C T

AU - Frost, D

AU - Curzon, B

AU - Evans, D G

AU - Lalloo, F

AU - Eeles, R

AU - Izatt, L

AU - Davidson, R

AU - Adlard, J

AU - Eccles, D

AU - Ong, K-r

AU - Douglas, F

AU - Downing, S

AU - Brewer, C

AU - Walker, L

AU - Nevanlinna, H

AU - Aittomäki, K

AU - Couch, F J

AU - Fredericksen, Z

AU - Lindor, N M

AU - Godwin, A

AU - Isaacs, C

AU - Caligo, M A

AU - Loman, N

AU - HEBON

AU - Miedzybrodzka, Zosia

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AB - 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.

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