title: Fine mapping of 14q24.1 breast cancer susceptibility locus.
abstract: In the National Cancer Institute Cancer Genetic Markers of Susceptibility (CGEMS) genome-wide association study of breast cancer, a single nucleotide polymorphism (SNP) marker, rs999737, in the 14q24.1 interval, was associated with breast cancer risk. In order to fine map this region, we imputed a 3.93 MB region flanking rs999737 for Stages 1 and 2 of the CGEMS study (5,692 cases, 5,576 controls) using the combined reference panels of the HapMap 3 and the 1000 Genomes Project. Single-marker association testing and variable-sized sliding-window haplotype analysis were performed, and for both analyses the initial tagging SNP rs999737 retained the strongest association with breast cancer risk. Investigation of contiguous regions did not reveal evidence for an additional independent signal. Therefore, we conclude that rs999737 is an optimal tag SNP for common variants in the 14q24.1 region and thus narrow the candidate variants that should be investigated in follow-up laboratory evaluation.
authors.affiliation: Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: Phoebe
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authors.lastname: Lee
authors.forename: Yi-Ping
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authors.lastname: Fu
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authors.lastname: Figueroa
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authors.lastname: Prokunina-Olsson
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authors.lastname: Gonzalez-Bosquet
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authors.lastname: Kraft
authors.forename: Zhaoming
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authors.lastname: Wang
authors.forename: Kevin B
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authors.lastname: Jacobs
authors.forename: Meredith
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authors.lastname: Yeager
authors.forename: Marie-Josèphe
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authors.lastname: Horner
authors.forename: Susan E
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authors.lastname: Hankinson
authors.forename: Amy
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authors.lastname: Hutchinson
authors.forename: Nilanjan
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authors.lastname: Chatterjee
authors.forename: Montserrat
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authors.lastname: Garcia-Closas
authors.forename: Regina G
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authors.lastname: Ziegler
authors.forename: Christine D
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authors.lastname: Berg
authors.forename: Saundra S
authors.initials: SS
authors.lastname: Buys
authors.forename: Catherine A
authors.initials: CA
authors.lastname: McCarty
authors.forename: Heather Spencer
authors.initials: HS
authors.lastname: Feigelson
authors.forename: Michael J
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authors.lastname: Thun
authors.forename: Ryan
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authors.lastname: Diver
authors.forename: Ross
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authors.lastname: Prentice
authors.forename: Rebecca
authors.initials: R
authors.lastname: Jackson
authors.forename: Charles
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authors.lastname: Kooperberg
authors.forename: Rowan
authors.initials: R
authors.lastname: Chlebowski
authors.forename: Jolanta
authors.initials: J
authors.lastname: Lissowska
authors.forename: Beata
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authors.lastname: Peplonska
authors.forename: Louise A
authors.initials: LA
authors.lastname: Brinton
authors.forename: Margaret
authors.initials: M
authors.lastname: Tucker
authors.forename: Joseph F
authors.initials: JF
authors.lastname: Fraumeni
authors.forename: Robert N
authors.initials: RN
authors.lastname: Hoover
authors.forename: Gilles
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authors.lastname: Thomas
authors.forename: David J
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authors.lastname: Hunter
authors.forename: Stephen J
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authors.lastname: Chanock
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D002874:Chromosome Mapping / Q000379:methods; D002883:Chromosomes, Human, Pair 14; D005260:Female; D020022:Genetic Predisposition to Disease; D060148:HapMap Project; D006239:Haplotypes; D006801:Humans; D020641:Polymorphism, Single Nucleotide