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Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
- Source :
- Breast Cancer Research; 14(1) (2012), Breast cancer research, 14(1):33. BioMed Central Ltd., Breast Cancer Research, Breast Cancer Research, 2012, 14 (1), pp.R33. ⟨10.1186/bcr3121⟩, Breast Cancer Research : BCR, Antoniou, Antonis C; Kuchenbaecker, Karoline B; Soucy, Penny; Beesley, Jonathan; Chen, Xiaoqing; McGuffog, Lesley; et al.(2012). Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Research, 14(1), R33. doi: http://dx.doi.org/10.1186/bcr3121. Retrieved from: http://www.escholarship.org/uc/item/9n99d8tb, Breast Cancer Research, 14(1), Breast Cancer Research, 14(1). BioMed Central Ltd., Breast Cancer Research; Vol 14, Antoniou, A, Kuchenbaecker, K, Soucy, P, Beesley, J, Chen, X, McGuffog, L, Lee, A, Barrowdale, D, Healey, S, Sinilnikova, O, Caligo, M, Loman, N, Harbst, K, Lindblom, A, Arver, B, Rosenquist, R, Karlsson, P, Nathanson, K, Domchek, S, Rebbeck, T, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Złowowcka-Perłowska, E, Osorio, A, Durán, M, Andrés, R, Benítez, J, Hamann, U, Hogervorst, F, van Os, T, Verhoef, S, Meijers-Heijboer, H, Wijnen, J, Gómez Garcia, E, Ligtenberg, M, Kriege, M, Collée, J M, Ausems, M, Oosterwijk, J, Peock, S, Frost, D, Ellis, S, Platte, R, Fineberg, E, Thomassen, M, Gerdes, A-M, Skytte, A-B, Kruse, T A & CIMBA, SWE-BRCA 2012, ' Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers ', Breast Cancer Research (Online Edition), vol. 14, no. 1, pp. R33 . https://doi.org/10.1186/bcr3121, Breast Cancer Research, BioMed Central, 2012, 14 (1), pp.R33. ⟨10.1186/bcr3121⟩, Breast Cancer Research, 14(1):R33. BioMed Central Ltd, Antoniou, A C, Kuchenbaecker, K B, Soucy, P, Beesley, J, Chen, X Q, McGuffog, L, Lee, A, Barrowdale, D, Healey, S, Sinilnikova, O M, Caligo, M A, Loman, N, Harbst, K, Lindblom, A, Arver, B, Rosenquist, R, Karlsson, P, Nathanson, K, Domchek, S, Rebbeck, T, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Zlowowcka-Perlowska, E, Osorio, A, Duran, M, Andres, R, Benitez, J, Hamann, U, Hogervorst, FB, Os, T A, Verhoef, S, Meijers-Heijboer, E J, van Wijnen, J, Garcia, E B G, Ligtenberg, M J, Kriege, M, Collee, M, Ausems, M G E M, Oosterwijk, J C, Peock, S, Frost, D, Ellis, S D, Platte, R, Fineberg, E, Evans, D G, Lalloo, F, Jacobs, C, Eeles, R, Adlard, J, Davidson, R, Cole, T, Cook, J, Paterson, J, Douglas, F, Brewer, C, Hodgson, S, Morrison, P J, Walker, L, Rogers, M T, Donaldson, A, Dorkins, H, Godwin, A K, Bove, B, Stoppa-Lyonnet, D, Houdayer, C, Buecher, B, de Pauw, A, Mazoyer, S, Calender, A, Leone, M, Bressac-de Paillerets, B, Caron, O, Sobol, H, Frenay, M, Prieur, F, Ferrer, S F, Mortemousque, I, Buys, S, Daly, M, Miron, A, Terry, M B, Hopper, J L, John, E M, Southey, M, Goldgar, D, Singer, C F, Fink-Retter, A, Tea, M K, Kaulich, D G, Hansen, T V O, Nielsen, F C, Barkardottir, R B, Gaudet, M, Kirchhoff, T, Joseph, V, Dutra-Clarke, A & Offit, K 2012, ' Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers ', Breast Cancer Research, vol. 14, no. 1, R33 . https://doi.org/10.1186/bcr3121, Antoniou, AC; Kuchenbaecker, KB; Soucy, P; Beesley, J; Chen, X; McGuffog, L; et al.(2012). Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. BREAST CANCER RESEARCH, 14(1). doi: 10.1186/bcr3121. UCLA: Retrieved from: http://www.escholarship.org/uc/item/4pr3h3nc, Breast cancer research, 14(1). BioMed Central, Breast Cancer Research, 14(1):R33. BioMed Central, Antoniou, A C, Kuchenbaecker, K B, Soucy, P, Beesley, J, Chen, X, McGuffog, L, Lee, A R, Barrowdale, D, Healey, S, Sinilnikova, O M, Caligo, M A, Loman, N, Harbst, K, Lindblom, A, Arver, B, Rosenquist, R, Karlsson, P W, Nathanson, K, Domchek, S, Rebbeck, T, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Złowowcka-Perłowska, E, Osorio, A, Durán, M, Andrés, R, Benítez, J, Hamann, U, Hogervorst, F B, van Os, T A, Verhoef, S, Meijers-Heijboer, H E J, Wijnen, J, Gómez Garcia, E B, Ligtenberg, M J, Kriege, M, Collée, J M, Ausems, M G E M, Oosterwijk, J C, Peock, S, Frost, D, Ellis, S D, Platte, R, Fineberg, E, Evans, D G, Lalloo, F, Jacobs, C, Jensen, U B, Skytte, A-B S & CIMBA, SWE-BRCA 2012, ' Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers ', Breast Cancer Research (Online Edition), vol. 14, no. 1, pp. R33 . https://doi.org/10.1186/bcr3121
- Publication Year :
- 2012
- Publisher :
- BioMed Central, 2012.
-
Abstract
- INTRODUCTION: Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). METHODS: To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. RESULTS: Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 x 10-4). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 x 10-5, P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 x 10-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049). CONCLUSIONS: The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers.<br />published_or_final_version
- Subjects :
- Oncology
Medicin och hälsovetenskap
Estrogen receptor
Genome-wide association study
HORMONE-RELATED PROTEIN
Chromosomes, Human, Pair 9 - genetics
Medical and Health Sciences
0302 clinical medicine
610 Medical sciences Medicine
CDKN2A
Risk Factors
Genotype
INVESTIGATORS
Chromosomes, Human, Pair 12 - genetics
skin and connective tissue diseases
MAMMOGRAPHIC DENSITY
Medicine(all)
0303 health sciences
BRCA1 Protein
Middle Aged
BRCA2 Protein
3. Good health
DNA-Binding Proteins
Hereditary Breast and Ovarian Cancer Syndrome - genetics
030220 oncology & carcinogenesis
Hereditary Breast and Ovarian Cancer Syndrome
TUMOR SUBTYPES
Female
Chromosomes, Human, Pair 9
Research Article
Adult
Breast cancer
BRCA1
BRCA2
medicine.medical_specialty
Heterozygote
SUSCEPTIBILITY LOCI
Single-nucleotide polymorphism
[SDV.CAN]Life Sciences [q-bio]/Cancer
Biology
Polymorphism, Single Nucleotide
OVARIAN-CANCER
03 medical and health sciences
[SDV.CAN] Life Sciences [q-bio]/Cancer
SDG 3 - Good Health and Well-being
Internal medicine
medicine
Humans
ddc:610
GENOME-WIDE ASSOCIATION
ddc:611
Genetic Association Studies
030304 developmental biology
Aged
Gynecology
Chromosomes, Human, Pair 12
CONSORTIUM
BRCA1 Protein - genetics
ALLELES
medicine.disease
BRCA2 Protein - genetics
Cancer and Oncology
GENETIC MODIFIERS
Ovarian cancer
Transcription Factors
Subjects
Details
- Language :
- English
- ISSN :
- 14655411 and 1465542X
- Database :
- OpenAIRE
- Journal :
- Breast Cancer Research; 14(1) (2012), Breast cancer research, 14(1):33. BioMed Central Ltd., Breast Cancer Research, Breast Cancer Research, 2012, 14 (1), pp.R33. ⟨10.1186/bcr3121⟩, Breast Cancer Research : BCR, Antoniou, Antonis C; Kuchenbaecker, Karoline B; Soucy, Penny; Beesley, Jonathan; Chen, Xiaoqing; McGuffog, Lesley; et al.(2012). Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Research, 14(1), R33. doi: http://dx.doi.org/10.1186/bcr3121. Retrieved from: http://www.escholarship.org/uc/item/9n99d8tb, Breast Cancer Research, 14(1), Breast Cancer Research, 14(1). BioMed Central Ltd., Breast Cancer Research; Vol 14, Antoniou, A, Kuchenbaecker, K, Soucy, P, Beesley, J, Chen, X, McGuffog, L, Lee, A, Barrowdale, D, Healey, S, Sinilnikova, O, Caligo, M, Loman, N, Harbst, K, Lindblom, A, Arver, B, Rosenquist, R, Karlsson, P, Nathanson, K, Domchek, S, Rebbeck, T, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Złowowcka-Perłowska, E, Osorio, A, Durán, M, Andrés, R, Benítez, J, Hamann, U, Hogervorst, F, van Os, T, Verhoef, S, Meijers-Heijboer, H, Wijnen, J, Gómez Garcia, E, Ligtenberg, M, Kriege, M, Collée, J M, Ausems, M, Oosterwijk, J, Peock, S, Frost, D, Ellis, S, Platte, R, Fineberg, E, Thomassen, M, Gerdes, A-M, Skytte, A-B, Kruse, T A & CIMBA, SWE-BRCA 2012, ' Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers ', Breast Cancer Research (Online Edition), vol. 14, no. 1, pp. R33 . https://doi.org/10.1186/bcr3121, Breast Cancer Research, BioMed Central, 2012, 14 (1), pp.R33. ⟨10.1186/bcr3121⟩, Breast Cancer Research, 14(1):R33. BioMed Central Ltd, Antoniou, A C, Kuchenbaecker, K B, Soucy, P, Beesley, J, Chen, X Q, McGuffog, L, Lee, A, Barrowdale, D, Healey, S, Sinilnikova, O M, Caligo, M A, Loman, N, Harbst, K, Lindblom, A, Arver, B, Rosenquist, R, Karlsson, P, Nathanson, K, Domchek, S, Rebbeck, T, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Zlowowcka-Perlowska, E, Osorio, A, Duran, M, Andres, R, Benitez, J, Hamann, U, Hogervorst, FB, Os, T A, Verhoef, S, Meijers-Heijboer, E J, van Wijnen, J, Garcia, E B G, Ligtenberg, M J, Kriege, M, Collee, M, Ausems, M G E M, Oosterwijk, J C, Peock, S, Frost, D, Ellis, S D, Platte, R, Fineberg, E, Evans, D G, Lalloo, F, Jacobs, C, Eeles, R, Adlard, J, Davidson, R, Cole, T, Cook, J, Paterson, J, Douglas, F, Brewer, C, Hodgson, S, Morrison, P J, Walker, L, Rogers, M T, Donaldson, A, Dorkins, H, Godwin, A K, Bove, B, Stoppa-Lyonnet, D, Houdayer, C, Buecher, B, de Pauw, A, Mazoyer, S, Calender, A, Leone, M, Bressac-de Paillerets, B, Caron, O, Sobol, H, Frenay, M, Prieur, F, Ferrer, S F, Mortemousque, I, Buys, S, Daly, M, Miron, A, Terry, M B, Hopper, J L, John, E M, Southey, M, Goldgar, D, Singer, C F, Fink-Retter, A, Tea, M K, Kaulich, D G, Hansen, T V O, Nielsen, F C, Barkardottir, R B, Gaudet, M, Kirchhoff, T, Joseph, V, Dutra-Clarke, A & Offit, K 2012, ' Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers ', Breast Cancer Research, vol. 14, no. 1, R33 . https://doi.org/10.1186/bcr3121, Antoniou, AC; Kuchenbaecker, KB; Soucy, P; Beesley, J; Chen, X; McGuffog, L; et al.(2012). Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. BREAST CANCER RESEARCH, 14(1). doi: 10.1186/bcr3121. UCLA: Retrieved from: http://www.escholarship.org/uc/item/4pr3h3nc, Breast cancer research, 14(1). BioMed Central, Breast Cancer Research, 14(1):R33. BioMed Central, Antoniou, A C, Kuchenbaecker, K B, Soucy, P, Beesley, J, Chen, X, McGuffog, L, Lee, A R, Barrowdale, D, Healey, S, Sinilnikova, O M, Caligo, M A, Loman, N, Harbst, K, Lindblom, A, Arver, B, Rosenquist, R, Karlsson, P W, Nathanson, K, Domchek, S, Rebbeck, T, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Złowowcka-Perłowska, E, Osorio, A, Durán, M, Andrés, R, Benítez, J, Hamann, U, Hogervorst, F B, van Os, T A, Verhoef, S, Meijers-Heijboer, H E J, Wijnen, J, Gómez Garcia, E B, Ligtenberg, M J, Kriege, M, Collée, J M, Ausems, M G E M, Oosterwijk, J C, Peock, S, Frost, D, Ellis, S D, Platte, R, Fineberg, E, Evans, D G, Lalloo, F, Jacobs, C, Jensen, U B, Skytte, A-B S & CIMBA, SWE-BRCA 2012, ' Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers ', Breast Cancer Research (Online Edition), vol. 14, no. 1, pp. R33 . https://doi.org/10.1186/bcr3121
- Accession number :
- edsair.doi.dedup.....a262a44389663b34550d4aab2a2ab775
- Full Text :
- https://doi.org/10.1186/bcr3121⟩