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Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2 (CIMBA)
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2009 (Engelska)Ingår i: British Journal of Cancer, ISSN 0007-0920, E-ISSN 1532-1827, Vol. 101, nr 12, s. 2048-2054Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Background: In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers. Methods: We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach. Results: We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P0.5) mutation carriers. Conclusion: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.

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Nature Publishing Group, 2009. Vol. 101, nr 12, s. 2048-2054
Nyckelord [en]
BRCA1, BRCA2, Breast cancer, ERCC4, BRCA1 protein, BRCA2 protein, article, cancer risk, cancer susceptibility, ERCC4 gene, female, gene, gene mutation, gene sequence, genetic association, genetic susceptibility, genotype, heterozygote, human, major clinical study, priority journal, retrospective study, single nucleotide polymorphism, Cohort Studies, DNA-Binding Proteins, Genes, BRCA1, Genes, BRCA2, Humans, Mutation, Polymorphism, Single Nucleotide, Retrospective Studies
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Cancer och onkologi
Identifikatorer
URN: urn:nbn:se:hj:diva-39672DOI: 10.1038/sj.bjc.6605416ISI: 000272557800015PubMedID: 19920816Scopus ID: 2-s2.0-71649085141OAI: oai:DiVA.org:hj-39672DiVA, id: diva2:1212036
Anmärkning

The Swedish BRCA1 and BRCA2 study collaborators (SWEBRCA): Per Karlsson, Margareta Nordling, Annika Bergman and Zakaria Einbeigi, Gothenburg, Sahlgrenska University Hospital; Marie Stenmark-Askmalm and Sigrun Liedgren, Linkoping University Hospital; Ake Borg, Niklas Loman, Hakan Olsson, Ulf Kristoffersson, Helena Jernstrom, Katja Harbst and Karin Henriksson, Lund University Hospital; Annika Lindblom, Brita Arver, Anna von Wachenfeldt, Annelie Liljegren, Gisela Barbany-Bustinza and Johanna Rantala, Stockholm, Karolinska University Hospital; Beatrice Malmer, Eva-Lena Stattin and Monica Emanuelsson, Umea University Hospital; Hans Ehrencrona, Richard Rosenquist Brandell and Niklas Dahl, Uppsala University Hospital.

Tillgänglig från: 2018-06-01 Skapad: 2018-06-01 Senast uppdaterad: 2018-06-01Bibliografiskt granskad

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