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Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
Copyright policy )NIH| Australian Breast Cancer Family Registry ,
CIHR| unidentified ,
NIH| Fox Chase Clinical Epidemiology and Validation Center ,
NIH| Metropolitan New York Registry of Breast Cancer Families ,
NIH| Ontario Familial Breast Cancer Registry ,
EC| FIGHTINGDRUGFAILURE ,
NIH| A genome-wide association study for breast cancer in BRCA1 mutation carriers ,
EC| COGS ,
AKA| GENETIC SUSCEPTIBILITY TO BREAST CANCER: miRNAs in cancer predisposition and progression ,
NIH| CANCER CENTER SUPPORT GRANT ,
NIH| CASE-CONTROL STUDY OF BRAIN CANCER AND OCCUPATION ,
NIH| COMPREHENSIVE FAMILIAL BREAST CANCER REGISTRY ,
NIH| BRCA2 missense mutations and breast cancer ,
NIH| SPORE in Breast Cancer ,
NIH| COOPERATIVE BREAST CANCER REGISTRY ,
NIH| NORTHERN CALIFORNIA COOPERATIVE FAMILY REGISTRY
Mulligan, A. M.; Couch, F. J.; Barrowdale, D.; Domchek, S. M.; Eccles, D.; Nevanlinna, H.; Ramus, S. J.; +183 Authors
Mulligan, A. M.; Couch, F. J.; Barrowdale, D.; Domchek, S. M.; Eccles, D.; Nevanlinna, H.; Ramus, S. J.; Robson, M.; Sherman, M.; Spurdle, A. B.; Wappenschmidt, B.; Hansen, T. V.; Karlsson, P.; Ding, Y. C.; Neuhausen, S. L.; Ontario Cancer Genetics Network; Beattie, M.; Pharoah, P. D.; Ejlertsen, B.; Moysich, K. B.; Southey, M. C.; Niederacher, D.; Andrulis, I. L.; Schoenbuchner, I.; CIMBA; Mazoyer, S.; Osorio, A.; Coupier, I.; Muñoz-Repeto, I.; Durán, M.; Godino, J.; Pertesi, M.; Sutter, C.; Benítez, J.; Peterlongo, P.; Fiebig, B.; Manoukian, S.; Peissel, B.; Léoné, M.; Zaffaroni, D.; Cattaneo, E.; Lebrun, M.; Bonanni, B.; Deissler, H.; Viel, A.; Pasini, B.; Papi, L.; Heinritz, W.; Ottini, L.; Savarese, A.; Bernard, L.; Boutry-Kryza, N.; Radice, P.; Hamann, U.; Gadzicki, D.; Verheus, M.; Kientz, C.; Meijers-Heijboer, H. E.; Wijnen, J.; Schäfer, D.; Gómez García, E. B.; Nelen, M. R.; Kets, C. M.; Seynaeve, C.; Hardouin, A.; Isaacs, C.; Tilanus-Linthorst, M. M.; van der Luijt, R. B.; van Os, T.; Rookus, M.; Longy, M.; Gevensleben, H.; Frost, D.; Jones, J. L.; Evans, D. G.; Lalloo, F.; Kast, K.; Eeles, R.; Berthet, P.; Izatt, L.; Adlard, J.; Davidson, R.; Cook, J.; Caux-Moncoutier, V.; Donaldson, A.; Sevenet, N.; Dorkins, H.; Preisler-Adams, S.; Gregory, H.; Eason, J.; Houghton, C.; Muller, D.; Barwell, J.; Side, L. E.; McCann, E.; Fassy-Colcombet, M.; Murray, A.; Peock, S.; Mortemousque, I.; Godwin, A. K.; Stoppa-Lyonnet, D.; Schmutzler, R. K.; Rhiem, K.; Engel, C.; Fricker, J. P.; Meindl, A.; Ruehl, I.; Caldes, T.; Arnold, N.; Varon-Mateeva, R.; Cornelis, F.; Nathanson, K. L.; Pujol, P.; Hopper, J. L.; de la Hoya, M.; Antoniou, A. C.; Heikkinen, T.; Lee, A.; Aittomäki, K.; Blanco, I.; Lazaro, C.; Barkardottir, R. B.; Karlan, B. Y.; Soucy, P.; Dumont, M.; Terry, M. B.; Simard, J.; Montagna, M.; Breast Cancer Family Registry; Tognazzo, S.; D'Andrea, E.; McGuffog, L.; Fox, S.; Gross, J.; Yan, M.; Rebbeck, T.; Olopade, O.; Chung, W.; Weitzel, J. N.; Lynch, H. T.; Ganz, P. A.; EMBRACE; Tomlinson, G. E.; Wang, X.; John, E. M.; Fredericksen, Z.; Healey, S.; Pankratz, V. S.; Lindor, N. M.; Miron, A. F.; Szabo, C.; Offit, K.; Sakr, R.; Gaudet, M.; GEMO Study Collaborators; Nielsen, F. C.; Bhatia, J.; Kauff, N.; Singer, C. F.; Tea, M. K.; Sinilnikova, O. M.; Goldgar, D.; Gschwantler-Kaulich, D.; Fink-Retter, A.; Mai, P. L.; Greene, M. H.; Daly, M. B.; Imyanitov, E.; HEBON; O'Malley, F. P.; Ozcelik, H.; Glendon, G.; Toland, A. E.; Chenevix-Trench, G.; Gerdes, A. M.; Janavicius, R.; Thomassen, M.; Buys, S. M.; Kruse, T. A.; Jensen, U. B.; Skytte, A. B.; kConFab, Investigators; Caligo, M. A.; Soller, M.; Henriksson, K.; Easton, D. F.; Wachenfeldt, V. A.; Arver, B.; SWE-BRCA; Stenmark-Askmalm, M.;
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
Abstract Introduction Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. Methods We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. Results The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 × 10-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. Conclusions The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumour subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers.
- Conwy & Denbighshire NHS Trust United Kingdom
- Georgetown University United States
- German Cancer Research Center Germany
- James Cancer Hospital United States
- University of Southern California United States
Risk, Heterozygote, Molecular biology, Genes, BRCA2, Genes, BRCA1, 610, Social Sciences, [SDV.CAN]Life Sciences [q-bio]/Cancer, Breast Neoplasms, Polymorphism, Single Nucleotide, 610 Medical sciences Medicine, [SDV.CAN] Life Sciences [q-bio]/Cancer, SDG 3 - Good Health and Well-being, Receptors, Genetics, Humans, Genetic Predisposition to Disease, Polymorphism, Progesterone, Alleles, Medicine(all), Samhällsvetenskap, Single Nucleotide, Mutation (Biology), BRCA1, BRCA2, Estrogen, Genes, Oncology, Receptors, Estrogen, Cancer and Oncology, Breast--Cancer, FOS: Biological sciences, Mutation, EMC MM-03-47-11, Female, EMC MM-03-86-01, Receptors, Progesterone, Research Article
Risk, Heterozygote, Molecular biology, Genes, BRCA2, Genes, BRCA1, 610, Social Sciences, [SDV.CAN]Life Sciences [q-bio]/Cancer, Breast Neoplasms, Polymorphism, Single Nucleotide, 610 Medical sciences Medicine, [SDV.CAN] Life Sciences [q-bio]/Cancer, SDG 3 - Good Health and Well-being, Receptors, Genetics, Humans, Genetic Predisposition to Disease, Polymorphism, Progesterone, Alleles, Medicine(all), Samhällsvetenskap, Single Nucleotide, Mutation (Biology), BRCA1, BRCA2, Estrogen, Genes, Oncology, Receptors, Estrogen, Cancer and Oncology, Breast--Cancer, FOS: Biological sciences, Mutation, EMC MM-03-47-11, Female, EMC MM-03-86-01, Receptors, Progesterone, Research Article
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This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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