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

Susan J Ramus; Christiana Kartsonaki; Simon A Gayther; Paul D P Pharoah; Olga M Sinilnikova; Jonathan Beesley; Xiaoqing Chen; Lesley McGuffog; Sue Healey; Fergus J Couch; Xianshu Wang; Zachary Fredericksen; Paolo Peterlongo; Siranoush Manoukian; Bernard Peissel; Daniela Zaffaroni; Gaia Roversi; Monica Barile; Alessandra Viel; Anna Allavena; Laura Ottini; Laura Papi; Viviana Gismondi; Fabio Capra; Paolo Radice; Mark H Greene; Phuong L Mai; Irene L Andrulis; Gord Glendon; Hilmi Ozcelik; Mads Thomassen; Anne-Marie Gerdes; Torben A Kruse; Dorthe Cruger; Uffe Birk Jensen; Maria Adelaide Caligo; Håkan Olsson; Ulf Kristoffersson; Annika Lindblom; Brita Arver; Per W. Karlsson; Marie Stenmark Askmalm; Ake Borg; Susan L Neuhausen; Yuan Chun Ding; Katherine L Nathanson; Susan M Domchek; Thomas v O Hansen; Lars Jønson; Bent Ejlertsen; OCGN

doi:10.1093/jnci/djq494

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

Susan J Ramus, Christiana Kartsonaki, Simon A Gayther, Paul D P Pharoah, Olga M Sinilnikova, Jonathan Beesley, Xiaoqing Chen, Lesley McGuffog, Sue Healey, Fergus J Couch, Xianshu Wang, Zachary Fredericksen, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Gaia Roversi, Monica Barile, Alessandra Viel, Anna AllavenaLaura Ottini, Laura Papi, Viviana Gismondi, Fabio Capra, Paolo Radice, Mark H Greene, Phuong L Mai, Irene L Andrulis, Gord Glendon, Hilmi Ozcelik, Mads Thomassen, Anne-Marie Gerdes, Torben A Kruse, Dorthe Cruger, Uffe Birk Jensen, Maria Adelaide Caligo, Håkan Olsson, Ulf Kristoffersson, Annika Lindblom, Brita Arver, Per W. Karlsson, Marie Stenmark Askmalm, Ake Borg, Susan L Neuhausen, Yuan Chun Ding, Katherine L Nathanson, Susan M Domchek, Thomas v O Hansen, Lars Jønson, Bent Ejlertsen, OCGN

38 Citationer (Scopus)

Abstract

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.

Originalsprog	Engelsk
Tidsskrift	National Cancer Institute. Journal (Print)
Vol/bind	103
Udgave nummer	2
Sider (fra-til)	105-16
Antal sider	12
ISSN	0027-8874
DOI	https://doi.org/10.1093/jnci/djq494
Status	Udgivet - 2011

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10.1093/jnci/djq494

Citationsformater

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., ... OCGN (2011). Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. National Cancer Institute. Journal (Print), 103(2), 105-16. https://doi.org/10.1093/jnci/djq494

Ramus, SJ, Kartsonaki, C, Gayther, SA, Pharoah, PDP, Sinilnikova, OM, Beesley, J, Chen, X, McGuffog, L, Healey, S, Couch, FJ, 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, MH, Mai, PL, Andrulis, IL, Glendon, G, Ozcelik, H, Thomassen, M, Gerdes, A-M, Kruse, TA, Cruger, D, Jensen, UB, Caligo, MA, Olsson, H, Kristoffersson, U, Lindblom, A, Arver, B, Karlsson, PW, Stenmark Askmalm, M, Borg, A, Neuhausen, SL, Ding, YC, Nathanson, KL, Domchek, SM, Hansen, TVO, Jønson, L, Ejlertsen, B & OCGN 2011, 'Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers', National Cancer Institute. Journal (Print), bind 103, nr. 2, s. 105-16. https://doi.org/10.1093/jnci/djq494

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

abstract = "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.",

keywords = "Adult, Aged, Aged, 80 and over, Alleles, Chromosomes, Human, Pair 9, Female, Genes, BRCA1, Genes, BRCA2, Genotype, Germ-Line Mutation, Heterozygote, Humans, Likelihood Functions, Middle Aged, Odds Ratio, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Retrospective Studies, Risk Factors",

author = "Ramus, {Susan J} and Christiana Kartsonaki and Gayther, {Simon A} and Pharoah, {Paul D P} and Sinilnikova, {Olga M} and Jonathan Beesley and Xiaoqing Chen and Lesley McGuffog and Sue Healey and Couch, {Fergus J} and Xianshu Wang and Zachary Fredericksen and Paolo Peterlongo and Siranoush Manoukian and Bernard Peissel and Daniela Zaffaroni and Gaia Roversi and Monica Barile and Alessandra Viel and Anna Allavena and Laura Ottini and Laura Papi and Viviana Gismondi and Fabio Capra and Paolo Radice and Greene, {Mark H} and Mai, {Phuong L} and Andrulis, {Irene L} and Gord Glendon and Hilmi Ozcelik and Mads Thomassen and Anne-Marie Gerdes and Kruse, {Torben A} and Dorthe Cruger and Jensen, {Uffe Birk} and Caligo, {Maria Adelaide} and H{\aa}kan Olsson and Ulf Kristoffersson and Annika Lindblom and Brita Arver and Karlsson, {Per W.} and {Stenmark Askmalm}, Marie and Ake Borg and Neuhausen, {Susan L} and Ding, {Yuan Chun} and Nathanson, {Katherine L} and Domchek, {Susan M} and Hansen, {Thomas v O} and Lars J{\o}nson and Bent Ejlertsen and OCGN",

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doi = "10.1093/jnci/djq494",

language = "English",

volume = "103",

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TY - JOUR

T1 - Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

AU - Ramus, Susan J

AU - Kartsonaki, Christiana

AU - Gayther, Simon A

AU - Pharoah, Paul D P

AU - Sinilnikova, Olga M

AU - Beesley, Jonathan

AU - Chen, Xiaoqing

AU - McGuffog, Lesley

AU - Healey, Sue

AU - Couch, Fergus J

AU - Wang, Xianshu

AU - Fredericksen, Zachary

AU - Peterlongo, Paolo

AU - Manoukian, Siranoush

AU - Peissel, Bernard

AU - Zaffaroni, Daniela

AU - Roversi, Gaia

AU - Barile, Monica

AU - Viel, Alessandra

AU - Allavena, Anna

AU - Ottini, Laura

AU - Papi, Laura

AU - Gismondi, Viviana

AU - Capra, Fabio

AU - Radice, Paolo

AU - Greene, Mark H

AU - Mai, Phuong L

AU - Andrulis, Irene L

AU - Glendon, Gord

AU - Ozcelik, Hilmi

AU - Thomassen, Mads

AU - Gerdes, Anne-Marie

AU - Kruse, Torben A

AU - Cruger, Dorthe

AU - Jensen, Uffe Birk

AU - Caligo, Maria Adelaide

AU - Olsson, Håkan

AU - Kristoffersson, Ulf

AU - Lindblom, Annika

AU - Arver, Brita

AU - Karlsson, Per W.

AU - Stenmark Askmalm, Marie

AU - Borg, Ake

AU - Neuhausen, Susan L

AU - Ding, Yuan Chun

AU - Nathanson, Katherine L

AU - Domchek, Susan M

AU - Hansen, Thomas v O

AU - Jønson, Lars

AU - Ejlertsen, Bent

AU - OCGN

PY - 2011

Y1 - 2011

N2 - 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.

AB - 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.

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Alleles

KW - Chromosomes, Human, Pair 9

KW - Female

KW - Genes, BRCA1

KW - Genes, BRCA2

KW - Genotype

KW - Germ-Line Mutation

KW - Heterozygote

KW - Humans

KW - Likelihood Functions

KW - Middle Aged

KW - Odds Ratio

KW - Ovarian Neoplasms

KW - Polymorphism, Single Nucleotide

KW - Retrospective Studies

KW - Risk Factors

U2 - 10.1093/jnci/djq494

DO - 10.1093/jnci/djq494

M3 - Journal article

C2 - 21169536

SN - 0027-8874

VL - 103

SP - 105

EP - 116

JO - National Cancer Institute. Journal (Print)

JF - National Cancer Institute. Journal (Print)

IS - 2

ER -

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

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