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Common genetic variants and modification of penetrance of BRCA2-Associated breast cancer
- Source :
- PLoS Genetics, Scopus-Elsevier, PLoS, PLoS Genetics (print), 6(10). Public Library of Science, PLoS Genetics, 6(10). Public Library of Science, Plos Genetics, 6(10):1001183. Public Library of Science, Dipòsit Digital de la UB, Universidad de Barcelona, PLoS Genetics; 6(10) (2010), Recercat. Dipósit de la Recerca de Catalunya, instname, Gaudet, M M, Kirchhoff, T, Green, T, Vijai, J, Korn, J M, Guiducci, C, Segre, A V, Mcgee, K, McGuffog, L, Kartsonaki, C, Morrison, J, Healey, S, Sinilnikova, O M, Stoppa-Lyonnet, D, Mazoyer, S, Gauthier-Villars, M, Sobol, H, Longy, M, Frenay, M, Hogervorst, F B L, Rookus, M A, Collee, J M, Hoogerbrugge, N, van Roozendaal, K E P, Piedmonte, M, Rubinstein, W S, Nerenstone, S, Van Le, L, Blank, S V, Caldes, T, de la Hoya, M, Nevanlinna, H, Aittomaki, K, Lazaro, C, Blanco, I, Arason, A, Johannsson, O T, Barkardottir, R B, Devilee, P, Olopade, O I, Neuhausen, S L, Wang, X S, Fredericksen, Z S, Peterlongo, P, Manoukian, S, Barile, M, Viel, A, Radice, P, Phelan, C M, Narod, S, Rennert, G, Lejbkowicz, F, Flugelman, A, Andrulis, I L, Glendon, G, Ozcelik, H, Toland, A E, Montagna, M, D'Andrea, E, Friedman, E, Laitman, Y, Borg, A, Beattie, M, Ramus, S J, Domchek, S M, Nathanson, K L, Rebbeck, T, Spurdle, A B, Chen, X Q, Holland, H, John, E M, Hopper, J L, Buys, S S, Daly, M B, Southey, M C, Terry, M B, Tung, N, Hansen, T V O, Nielsen, F C, Greene, M I, Mai, P L, Osorio, A, Duran, M, Andres, R, Benitez, J, Weitzel, J N, Garber, J, Hamann, U, Peock, S, Cook, M, Oliver, C, Frost, D, Platte, R, Evans, D G, Lalloo, F, Eeles, R, Izatt, L, Walker, L & Eason, J A O 2010, ' Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer ', PLoS Genetics, vol. 6, no. 10, pp. e1001183 . https://doi.org/10.1371/journal.pgen.1001183, PLoS Genetics, Vol 6, Iss 10, p e1001183 (2010), University of Manchester-PURE, PLoS Genetics, 6(10), PLOS GENET, 6 (10), Article e1001183. (2010)
- Publication Year :
- 2010
- Publisher :
- Public Library of Science (PLoS), 2010.
-
Abstract
- The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors.1 To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage 1 using the Affymetrix 6.0 platform, 592,163 filtered SNPs genotyped were available on 899 young (<br />National Breast Cancer Foundation (U.S.)<br />Starr Cancer Consortium<br />National Institutes of Health (U.S.) (NCI: P20CA103694-3 )<br />Lymphoma Foundation
- Subjects :
- Cancer Research
Linkage disequilibrium
Chromosomes, Human, Pair 20
Genome-wide association study
Penetrance
RECURRENT BRCA1
312 Clinical medicine
QH426-470
PHENOTYPE
Linkage Disequilibrium
0302 clinical medicine
Breast cancer
Gene Frequency
Risk Factors
BRCA2 MUTATION CARRIERS
POPULATION
Genetics (clinical)
Genetics and Genomics/Genetics of Disease
RISK
Genetics
Genetics and Genomics/Medical Genetics
0303 health sciences
Genetics and Genomics/Functional Genomics
ASSOCIATION
Middle Aged
3. Good health
DNA-Binding Proteins
Genetics and Genomics/Gene Function
SUSCEPTIBILITY GENES
030220 oncology & carcinogenesis
Female
Genetics and Genomics/Gene Discovery
Research Article
Adult
Heterozygote
education
BRCA2 MUTATION CARRIERS, SUSCEPTIBILITY GENES, RECURRENT BRCA1, RISK, POPULATION, MODEL, PREDISPOSITION, ASSOCIATION, PHENOTYPE, FREQUENCY
Single-nucleotide polymorphism
Breast Neoplasms
Biology
FREQUENCY
Polymorphism, Single Nucleotide
White People
Càncer de mama
03 medical and health sciences
SDG 3 - Good Health and Well-being
medicine
Humans
Genetic Predisposition to Disease
Receptor, Fibroblast Growth Factor, Type 2
Genetics and Genomics/Genomics
Molecular Biology
Allele frequency
Genetics and Genomics/Cancer Genetics
Ecology, Evolution, Behavior and Systematics
030304 developmental biology
BRCA2 Protein
brca2 mutation carriers susceptibility genes recurrent brca1 risk population model predisposition association phenotype frequency
Chromosomes, Human, Pair 10
Haplotype
Genetics and Genomics
medicine.disease
PREDISPOSITION
MODEL
Minor allele frequency
Haplotypes
Cancer and Oncology
Mutation
Genome-Wide Association Study
Transcription Factors
Subjects
Details
- Language :
- English
- ISSN :
- 15537390 and 15537404
- Database :
- OpenAIRE
- Journal :
- PLoS Genetics, Scopus-Elsevier, PLoS, PLoS Genetics (print), 6(10). Public Library of Science, PLoS Genetics, 6(10). Public Library of Science, Plos Genetics, 6(10):1001183. Public Library of Science, Dipòsit Digital de la UB, Universidad de Barcelona, PLoS Genetics; 6(10) (2010), Recercat. Dipósit de la Recerca de Catalunya, instname, Gaudet, M M, Kirchhoff, T, Green, T, Vijai, J, Korn, J M, Guiducci, C, Segre, A V, Mcgee, K, McGuffog, L, Kartsonaki, C, Morrison, J, Healey, S, Sinilnikova, O M, Stoppa-Lyonnet, D, Mazoyer, S, Gauthier-Villars, M, Sobol, H, Longy, M, Frenay, M, Hogervorst, F B L, Rookus, M A, Collee, J M, Hoogerbrugge, N, van Roozendaal, K E P, Piedmonte, M, Rubinstein, W S, Nerenstone, S, Van Le, L, Blank, S V, Caldes, T, de la Hoya, M, Nevanlinna, H, Aittomaki, K, Lazaro, C, Blanco, I, Arason, A, Johannsson, O T, Barkardottir, R B, Devilee, P, Olopade, O I, Neuhausen, S L, Wang, X S, Fredericksen, Z S, Peterlongo, P, Manoukian, S, Barile, M, Viel, A, Radice, P, Phelan, C M, Narod, S, Rennert, G, Lejbkowicz, F, Flugelman, A, Andrulis, I L, Glendon, G, Ozcelik, H, Toland, A E, Montagna, M, D'Andrea, E, Friedman, E, Laitman, Y, Borg, A, Beattie, M, Ramus, S J, Domchek, S M, Nathanson, K L, Rebbeck, T, Spurdle, A B, Chen, X Q, Holland, H, John, E M, Hopper, J L, Buys, S S, Daly, M B, Southey, M C, Terry, M B, Tung, N, Hansen, T V O, Nielsen, F C, Greene, M I, Mai, P L, Osorio, A, Duran, M, Andres, R, Benitez, J, Weitzel, J N, Garber, J, Hamann, U, Peock, S, Cook, M, Oliver, C, Frost, D, Platte, R, Evans, D G, Lalloo, F, Eeles, R, Izatt, L, Walker, L & Eason, J A O 2010, ' Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer ', PLoS Genetics, vol. 6, no. 10, pp. e1001183 . https://doi.org/10.1371/journal.pgen.1001183, PLoS Genetics, Vol 6, Iss 10, p e1001183 (2010), University of Manchester-PURE, PLoS Genetics, 6(10), PLOS GENET, 6 (10), Article e1001183. (2010)
- Accession number :
- edsair.doi.dedup.....b96f1c8ba5f04bbdf08dc774a2add64a
- Full Text :
- https://doi.org/10.1371/journal.pgen.1001183