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.

Ramus, S., Kartsonaki, C., Gayther, S., Pharoah, P., Sinilnikova, O., Beesley, J., et al. (2011). Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. JOURNAL OF THE NATIONAL CANCER INSTITUTE, 103(2), 105-116 [10.1093/jnci/djq494].

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

ROVERSI, GAIA;
2011

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.
Articolo in rivista - Articolo scientifico
Aged, 80 and over; Retrospective Studies; Likelihood Functions; Alleles; Middle Aged; Germ-Line Mutation; Female; Polymorphism, Single Nucleotide; Risk Factors; Genotype; Heterozygote; Chromosomes, Human, Pair 9; Humans; Odds Ratio; Ovarian Neoplasms; Genes, BRCA2; Aged; Genes, BRCA1; Adult
English
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116
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Ramus, S., Kartsonaki, C., Gayther, S., Pharoah, P., Sinilnikova, O., Beesley, J., et al. (2011). Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. JOURNAL OF THE NATIONAL CANCER INSTITUTE, 103(2), 105-116 [10.1093/jnci/djq494].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/28431
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