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  • Osorio, A.Spanish National Cancer Centre (author)

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

  • Article/chapterEnglish2011

Publisher, publication year, extent ...

  • 2011-03-22
  • Springer Science and Business Media LLC,2011

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:fd3db35e-17d2-47ed-95a6-e81cdffe31d1
  • https://lup.lub.lu.se/record/1965913URI
  • https://doi.org/10.1038/bjc.2011.91DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-152914URI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:122363665URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-67841URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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 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 mutation carriers. RESULTS: An association was observed between p.Arg280His-rs25489 and breast cancer risk for BRCA2 mutation carriers, with rare homozygotes at increased risk relative to common homozygotes (hazard ratio: 22.3, 95% confidence interval: 14.3-34, P<0.001). This association was further tested in a second series of 4480 BRCA1 and 3016 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2. CONCLUSIONS AND INTERPRETATION: No evidence of association was found when the larger series was analysed which lead us to conclude that none of the three SNPs are significant modifiers of breast cancer risk for mutation carriers. British Journal of Cancer (2011) 104, 1356-1361. doi:10.1038/bjc.2011.91 www.bjcancer.com Published online 22 March 2011 (C) 2011 Cancer Research UK

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Milne, R. L.Spanish National Cancer Centre (author)
  • Alonso, R.Spanish National Cancer Centre (author)
  • Pita, G.Spanish National Cancer Centre (author)
  • Peterlongo, P.Fdn IRCCS Ist Nazl Tumori (author)
  • Teule, A.Catalan Institute of Oncology (author)
  • Nathanson, K. L.University of Pennsylvania,University of Lund Hospital (author)
  • Domchek, S. M.University of Pennsylvania,Fdn IRCCS Ist Nazl Tumori (author)
  • Rebbeck, T.University of Pennsylvania (author)
  • Lasa, A.Hospital Santa Creu and Sant Pau (author)
  • Konstantopoulou, I.NCSR Demokritos (author)
  • Hogervorst, F. B.Netherlands Cancer Institute,Ist Europeo Oncology (author)
  • Verhoef, S.Netherlands Cancer Institute (author)
  • van Dooren, M. F.Erasmus University,University of Cambridge (author)
  • Jager, A.Erasmus University,Leiden University,Yorkshire Reg Genet Serv (author)
  • Ausems, M. G. E. M.University Medical Centre Utrecht,University of Kansas (author)
  • Aalfs, C. M.University of Amsterdam,University of Cambridge,University and University Hospital Pisa (author)
  • van Asperen, C. J. (author)
  • Vreeswijk, M.Leiden University (author)
  • Waisfisz, Q.Vrije University Amsterdam (author)
  • Van Roozendaal, C. E.University Medical Centre,Institute for Cancer Research and Royal Marsden (author)
  • Ligtenberg, M. J.Radboud University Nijmegen,University of Cambridge (author)
  • Easton, D. F.University of Cambridge,Newcastle Upon Tyne Hospital (author)
  • Peock, S.University of Cambridge (author)
  • Cook, M. (author)
  • Oliver, C. T.University of Cambridge (author)
  • Frost, D. (author)
  • Curzon, B.University of Cambridge,Royal Devon and Exeter Hospital (author)
  • Evans, D. G.Central Manchester University Hospital (author)
  • Lalloo, F.Central Manchester University Hospital,Catalan Institute of Oncology (author)
  • Eeles, R. (author)
  • Izatt, L.Guys and St Thomas (author)
  • Davidson, R.Yorkhill Hospital (author)
  • Adlard, J. (author)
  • Eccles, D.Princess Anne Hospital (author)
  • Ong, K-RBirmingham Womens Hospital (author)
  • Douglas, F. (author)
  • Downing, S.Addenbrookes Hospital (author)
  • Brewer, C. (author)
  • Walker, L.Churchill Hospital (author)
  • Nevanlinna, H.University of Helsinki (author)
  • Aittomaki, K.Mayo Clinic (author)
  • Couch, F. J. (author)
  • Fredericksen, Z.Mayo Clinic (author)
  • Lindor, N. M.Mayo Clinic (author)
  • Godwin, A. (author)
  • Isaacs, C.MD Georgetown University (author)
  • Caligo, M. A. (author)
  • Loman, NiklasLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)onk-nlo (author)
  • Jernström, HelenaLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,University of Lund Hospital(Swepub:lu)onk-hje (author)
  • Barbany-Bustinza, G.Karolinska Institutet,Karolinska University Hospital (author)
  • Liljegren, A.Karolinska Institutet,Karolinska University Hospital (author)
  • Ehrencrona, HansUppsala universitet,Uppsala University,Medicinsk genetik,Forskargrupp Hellström Pigg(Swepub:uu)habos227 (author)
  • Askmalm Stenmark, MarieLinköpings universitet,Onkologi,Hälsouniversitetet(Swepub:liu)marst93 (author)
  • Feliubadalo, L. (author)
  • Manoukian, S.Centre Hospital University Lyon (author)
  • Peissel, B.Fdn IRCCS Ist Nazl Tumori (author)
  • Zaffaroni, D.Fdn IRCCS Ist Nazl Tumori (author)
  • Bonanni, B.Queensland Institute Medical Research (author)
  • Fortuzzi, S.Cogentech (author)
  • Johannsson, O. T.University of Iceland (author)
  • Chenevix-Trench, G.Queensland Institute Medical Research (author)
  • Chen, X-CQueensland Institute Medical Research (author)
  • Beesley, J.Queensland Institute Medical Research (author)
  • Spurdle, A. B. (author)
  • Sinilnikova, O. M. (author)
  • Healey, S.Queensland Institute Med Research (author)
  • McGuffog, L. (author)
  • Antoniou, A. C.University of Cambridge (author)
  • Brunet, J.Catalan Institute of Oncololgy (author)
  • Radice, P. (author)
  • Benitez, J.Spanish National Cancer Centre (author)
  • Spanish National Cancer CentreFdn IRCCS Ist Nazl Tumori (creator_code:org_t)

Related titles

  • In:British Journal of Cancer: Springer Science and Business Media LLC104:8, s. 1356-13611532-18270007-0920

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