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Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.

التفاصيل البيبلوغرافية
العنوان: Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.
المؤلفون: Ramus, Susan J, Kartsonaki, Christiana, Gayther, Simon A, Pharoah, Paul D P, Sinilnikova, Olga M, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Healey, Sue, Couch, Fergus J, Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Allavena, Anna, Ottini, Laura, Papi, Laura, Gismondi, Viviana, Capra, Fabio, Radice, Paolo, Greene, Mark H, Mai, Phuong L, Andrulis, Irene L, Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A, Cruger, Dorthe, Jensen, Uffe Birk, Caligo, Maria Adelaide, Olsson, Håkan, Kristoffersson, Ulf, Lindblom, Annika, Arver, Brita, Karlsson, Per, Stenmark Askmalm, Marie, Borg, Ake, Neuhausen, Susan L, Ding, Yuan Chun, Nathanson, Katherine L, Domchek, Susan M, Jakubowska, Anna, Lubiński, Jan, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Górski, Bohdan, Cybulski, Cezary, Dębniak, Tadeusz, Osorio, Ana, Durán, Mercedes, Tejada, Maria-Isabel, Benítez, Javier, Hamann, Ute, Rookus, Matti A, Verhoef, Senno, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Bodmer, Danielle, Ausems, Margreet G E M, van Os, Theo A, Asperen, Christi J, Blok, Marinus J, Meijers-Heijboer, Hanne E J, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Dunning, Alison M, Evans, D Gareth, Eeles, Ros, Pichert, Gabriella, Cole, Trevor, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Kennedy, M John, Rogers, Mark T, Side, Lucy E, Donaldson, Alan, Gregory, Helen, Godwin, Andrew, Stoppa-Lyonnet, Dominique, Moncoutier, Virginie, Castera, Laurent, Mazoyer, Sylvie, Barjhoux, Laure, Bonadona, Valérie, Leroux, Dominique, Faivre, Laurence, Lidereau, Rosette, Nogues, Catherine, Bignon, Yves-Jean, Prieur, Fabienne, Collonge-Rame, Marie-Agnès, Venat-Bouvet, Laurence, Fert-Ferrer, Sandra, Miron, Alex, Buys, Saundra S, Hopper, John L, Daly, Mary B, John, Esther M, Terry, Mary Beth, Goldgar, David, Hansen, Thomas v O, Jønson, Lars, Ejlertsen, Bent, Agnarsson, Bjarni A, Offit, Kenneth, Kirchhoff, Tomas, Vijai, Joseph, Dutra-Clarke, Ana V C, Przybylo, Jennifer A, Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny N, Janavicius, Ramunas, Blanco, Ignacio, Lázaro, Conxi, Moysich, Kirsten B, Karlan, Beth Y, Gross, Jenny, Beattie, Mary S, Schmutzler, Rita, Wappenschmidt, Barbara, Meindl, Alfons, Ruehl, Ina, Fiebig, Britta, Sutter, Christian, Arnold, Norbert, Deissler, Helmut, Varon-Mateeva, Raymonda, Kast, Karin, Niederacher, Dieter, Gadzicki, Dorothea, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Simard, Jacques, Soucy, Penny, Spurdle, Amanda B, Holland, Helene, Chenevix-Trench, Georgia, Easton, Douglas F, Antoniou, Antonis C
المساهمون: Department of Gynaecological Oncology, UCL EGA Institute for Women's Health, University College London, London, UK. sramus@usc.edu
سنة النشر: 2012
المجموعة: Hirsla - Landspítali University Hospital research archive
مصطلحات موضوعية: Adult, Aged, 80 and over, Alleles, Chromosomes, Human, Pair 9, Female, Genes, BRCA1, BRCA2, Genotype, Germ-Line Mutation, Heterozygote, Humans, Likelihood Functions, Middle Aged, Odds Ratio, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Retrospective Studies, Risk Factors
الوصف: To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. ; BACKGROUND: Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have been associated with ovarian cancer susceptibility. A genome-wide association study recently identified an association between the rare allele of the single-nucleotide polymorphism (SNP) rs3814113 (ie, the C allele) at 9p22.2 and decreased risk of ovarian cancer for women in the general population. We evaluated the association of this SNP with ovarian cancer risk among BRCA1 or BRCA2 mutation carriers by use of data from the Consortium of Investigators of Modifiers of BRCA1/2. METHODS: We genotyped rs3814113 in 10,029 BRCA1 mutation carriers and 5837 BRCA2 mutation carriers. Associations with ovarian and breast cancer were assessed with a retrospective likelihood approach. All statistical tests were two-sided. RESULTS: The minor allele of rs3814113 was associated with a reduced risk of ovarian cancer among BRCA1 mutation carriers (per-allele hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.72 to 0.85; P = 4.8 × 10(-9)) and BRCA2 mutation carriers (hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.67 to 0.90; P = 5.5 × 10(-4)). This SNP was not associated with breast cancer risk among either BRCA1 or BRCA2 mutation carriers. BRCA1 mutation carriers with the TT genotype at SNP rs3814113 were predicted to have an ovarian cancer risk to age 80 years of 48%, and those with the CC genotype were predicted to have a risk of 33%. CONCLUSION: Common genetic variation at the 9p22.2 locus was associated with decreased risk of ovarian cancer for carriers of a BRCA1 or BRCA2 mutation. ; National Cancer Institute (NCI) National Institutes of Health RFA-CA-06-503 P50 CA83638 U01 CA69631 5U01 CA113916 R01 CA128978 P50 CA116201 R01 CA74415 ...
نوع الوثيقة: article in journal/newspaper
اللغة: English
تدمد: 1460-2105
العلاقة: http://dx.doi.org/10.1093/jnci/djq494Test; J. Natl. Cancer Inst. 2011, 103(2):105-16; http://hdl.handle.net/2336/227832Test; Journal of the National Cancer Institute
DOI: 10.1093/jnci/djq494
الإتاحة: https://doi.org/10.1093/jnci/djq494Test
http://hdl.handle.net/2336/227832Test
حقوق: Archived with thanks to Journal of the National Cancer Institute
رقم الانضمام: edsbas.EC99A0A6
قاعدة البيانات: BASE
الوصف
تدمد:14602105
DOI:10.1093/jnci/djq494