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Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers
- Source :
- JOURNAL OF THE NATIONAL CANCER INSTITUTE, 103(2), 105-116. Oxford University Press, Ramus, S J, Kartsonaki, C, Gayther, S A, Pharoah, P D P, Sinilnikova, O M, Beesley, J, Chen, X Q, McGuffog, L, Healey, S, Couch, F J, Wang, X S, Fredericksen, Z, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, Allavena, A, Ottini, L, Papi, L, Gismondi, V, Capra, F, Radice, P, Greene, M H, Mai, P L, Andrulis, I L, Glendon, G, Ozcelik, H, Thomassen, M, Gerdes, A M, Kruse, T A, Cruger, D, Jensen, U B, Caligo, M A, Olsson, H, Kristoffersson, U, Lindblom, A, Arver, B, Karlsson, P, Askmalm, M S, Borg, A, Neuhausen, S L, Ding, Y C, Nathanson, K L, Domchek, S M, Jakubowska, A, Lubinski, J, Huzarski, T, Byrski, T, Gronwald, J, Gorski, B, Cybulski, C, Debniak, T, Osorio, A, Duran, M, Tejada, M I, Benitez, J, Hamann, U, Rookus, M A, Verhoef, S, Tilanus-Linthorst, M A, Vreeswijk, M P, Bodmer, D, Ausems, M G E M, Os, T A, van Asperen, C J, Blok, M J, Meijers-Heijboer, E J, Peock, S, Cook, M, Oliver, C, Frost, D, Dunning, A M, Evans, D G, Eeles, R, Pichert, G, Cole, T, Hodgson, S, Brewer, C, Morrison, P J, Porteous, M, Kennedy, M J, Rogers, M T, Side, L E, Donaldson, A, Gregory, H, Godwin, A, Stoppa-Lyonnet, D, Moncoutier, V, Castera, L, Mazoyer, S, Barjhoux, L, Bonadona, V, Leroux, D, Faivre, L, Lidereau, R & Nogues, C 2011, ' Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers ', Journal of the National Cancer Institute, vol. 103, no. 2, pp. 105-116 . https://doi.org/10.1093/jnci/djq494, Ramus, S J, Kartsonaki, C, Gayther, S A, Pharoah, P D P, Sinilnikova, O M, Beesley, J, Chen, X, McGuffog, L, Healey, S, Couch, F J, Wang, X, Fredericksen, Z, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, Allavena, A, Ottini, L, Papi, L, Gismondi, V, Capra, F, Radice, P, Greene, M H, Mai, P L, Andrulis, I L, Glendon, G, Ozcelik, H, Thomassen, M, Gerdes, A-M A, Kruse, T A, Cruger, D, Jensen, U B, Caligo, M A, Olsson, H, Kristoffersson, U, Lindblom, A, Arver, B, Karlsson, P W, Stenmark Askmalm, M, Borg, A, Neuhausen, S L, Ding, Y C, Nathanson, K L, Frost, D, Hansen, T V O, Holland, H & OCGN 2011, ' Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers ', Journal of the National Cancer Institute, vol. 103, no. 2, pp. 105-16 . https://doi.org/10.1093/jnci/djq494, University of Manchester-PURE, Journal of the National Cancer Institute, Journal of the National Cancer Institute, 2011, 103, pp.1-13, Journal of the National Cancer Institute, 103(2). Oxford University Press, JNCI: Journal of the National Cancer Institute, JNCI: Journal of the National Cancer Institute, 2011, 103, pp.1-13. ⟨10.1093/jnci/djq494⟩, Digital.CSIC. Repositorio Institucional del CSIC, instname, Ramus, S J, Kartsonaki, C, Gayther, S A, Pharoah, P D P, Sinilnikova, O M, Beesley, J, Chen, X, McGuffog, L, Healey, S, Couch, F J, Wang, X, Fredericksen, Z, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, Allavena, A, Ottini, L, Papi, L, Gismondi, V, Capra, F, Radice, P, Greene, M H, Mai, P L, Andrulis, I L, Glendon, G, Ozcelik, H, Thomassen, M, Gerdes, A-M, Kruse, T A, Cruger, D, Jensen, U B, Caligo, M A, Olsson, H, Kristoffersson, U, Lindblom, A, Arver, B, Karlsson, P, Stenmark Askmalm, M, Borg, A, Neuhausen, S L, Ding, Y C, Nathanson, K L, Domchek, S M, Jakubowska, A, Lubinski, J, Huzarski, T & OCGN 2011, ' Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers ', National Cancer Institute. Journal, , vol. 103, no. 2, pp. 105-116 . https://doi.org/10.1093/jnci/djq494, Journal of the National Cancer Institute, 103(2), 105-116. Oxford University Press
- Publication Year :
- 2011
- Publisher :
- Oxford University Press, 2011.
-
Abstract
- [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.<br />Spanish National Cancer Center (CNIO) and the Spanish Consortium: Partially supported by Fundación Mutua Madrileña, Asociación Española Contra el Cáncer, and the Spanish Ministry of Science and Innovation (FIS PI08 1120).
- Subjects :
- Oncology
Cancer Research
endocrine system diseases
Genes, BRCA2
Genes, BRCA1
Genome-wide association study
FAMILIES
0302 clinical medicine
Risk Factors
Retrospective Studie
Genotype
Odds Ratio
skin and connective tissue diseases
POPULATION
Genetics
Ovarian Neoplasms
Aged, 80 and over
Allele
0303 health sciences
education.field_of_study
Likelihood Functions
Articles
GERMLINE MUTATIONS
Middle Aged
Likelihood Function
female genital diseases and pregnancy complications
3. Good health
030220 oncology & carcinogenesis
Female
Chromosomes, Human, Pair 9
Human
Adult
[SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT]
medicine.medical_specialty
Heterozygote
SUSCEPTIBILITY LOCI
PROTEINS
Population
Biology
Polymorphism, Single Nucleotide
BASONUCLIN-2
03 medical and health sciences
Breast cancer
Germline mutation
SDG 3 - Good Health and Well-being
Internal medicine
medicine
BREAST-CANCER
Humans
GENOME-WIDE ASSOCIATION
education
Alleles
Germ-Line Mutation
030304 developmental biology
Retrospective Studies
Aged
IDENTIFICATION
Risk Factor
Ovarian Neoplasm
Editorials
Cancer
medicine.disease
Minor allele frequency
Ovarian cancer
Subjects
Details
- Language :
- English
- ISSN :
- 00278874 and 14602105
- Database :
- OpenAIRE
- Journal :
- JOURNAL OF THE NATIONAL CANCER INSTITUTE, 103(2), 105-116. Oxford University Press, Ramus, S J, Kartsonaki, C, Gayther, S A, Pharoah, P D P, Sinilnikova, O M, Beesley, J, Chen, X Q, McGuffog, L, Healey, S, Couch, F J, Wang, X S, Fredericksen, Z, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, Allavena, A, Ottini, L, Papi, L, Gismondi, V, Capra, F, Radice, P, Greene, M H, Mai, P L, Andrulis, I L, Glendon, G, Ozcelik, H, Thomassen, M, Gerdes, A M, Kruse, T A, Cruger, D, Jensen, U B, Caligo, M A, Olsson, H, Kristoffersson, U, Lindblom, A, Arver, B, Karlsson, P, Askmalm, M S, Borg, A, Neuhausen, S L, Ding, Y C, Nathanson, K L, Domchek, S M, Jakubowska, A, Lubinski, J, Huzarski, T, Byrski, T, Gronwald, J, Gorski, B, Cybulski, C, Debniak, T, Osorio, A, Duran, M, Tejada, M I, Benitez, J, Hamann, U, Rookus, M A, Verhoef, S, Tilanus-Linthorst, M A, Vreeswijk, M P, Bodmer, D, Ausems, M G E M, Os, T A, van Asperen, C J, Blok, M J, Meijers-Heijboer, E J, Peock, S, Cook, M, Oliver, C, Frost, D, Dunning, A M, Evans, D G, Eeles, R, Pichert, G, Cole, T, Hodgson, S, Brewer, C, Morrison, P J, Porteous, M, Kennedy, M J, Rogers, M T, Side, L E, Donaldson, A, Gregory, H, Godwin, A, Stoppa-Lyonnet, D, Moncoutier, V, Castera, L, Mazoyer, S, Barjhoux, L, Bonadona, V, Leroux, D, Faivre, L, Lidereau, R & Nogues, C 2011, ' Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers ', Journal of the National Cancer Institute, vol. 103, no. 2, pp. 105-116 . https://doi.org/10.1093/jnci/djq494, Ramus, S J, Kartsonaki, C, Gayther, S A, Pharoah, P D P, Sinilnikova, O M, Beesley, J, Chen, X, McGuffog, L, Healey, S, Couch, F J, Wang, X, Fredericksen, Z, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, Allavena, A, Ottini, L, Papi, L, Gismondi, V, Capra, F, Radice, P, Greene, M H, Mai, P L, Andrulis, I L, Glendon, G, Ozcelik, H, Thomassen, M, Gerdes, A-M A, Kruse, T A, Cruger, D, Jensen, U B, Caligo, M A, Olsson, H, Kristoffersson, U, Lindblom, A, Arver, B, Karlsson, P W, Stenmark Askmalm, M, Borg, A, Neuhausen, S L, Ding, Y C, Nathanson, K L, Frost, D, Hansen, T V O, Holland, H & OCGN 2011, ' Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers ', Journal of the National Cancer Institute, vol. 103, no. 2, pp. 105-16 . https://doi.org/10.1093/jnci/djq494, University of Manchester-PURE, Journal of the National Cancer Institute, Journal of the National Cancer Institute, 2011, 103, pp.1-13, Journal of the National Cancer Institute, 103(2). Oxford University Press, JNCI: Journal of the National Cancer Institute, JNCI: Journal of the National Cancer Institute, 2011, 103, pp.1-13. ⟨10.1093/jnci/djq494⟩, Digital.CSIC. Repositorio Institucional del CSIC, instname, Ramus, S J, Kartsonaki, C, Gayther, S A, Pharoah, P D P, Sinilnikova, O M, Beesley, J, Chen, X, McGuffog, L, Healey, S, Couch, F J, Wang, X, Fredericksen, Z, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, Allavena, A, Ottini, L, Papi, L, Gismondi, V, Capra, F, Radice, P, Greene, M H, Mai, P L, Andrulis, I L, Glendon, G, Ozcelik, H, Thomassen, M, Gerdes, A-M, Kruse, T A, Cruger, D, Jensen, U B, Caligo, M A, Olsson, H, Kristoffersson, U, Lindblom, A, Arver, B, Karlsson, P, Stenmark Askmalm, M, Borg, A, Neuhausen, S L, Ding, Y C, Nathanson, K L, Domchek, S M, Jakubowska, A, Lubinski, J, Huzarski, T & OCGN 2011, ' Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers ', National Cancer Institute. Journal, , vol. 103, no. 2, pp. 105-116 . https://doi.org/10.1093/jnci/djq494, Journal of the National Cancer Institute, 103(2), 105-116. Oxford University Press
- Accession number :
- edsair.doi.dedup.....3cf6585e461a42f7e37cbee4d0997795
- Full Text :
- https://doi.org/10.1093/jnci/djq494