Fine mapping of 14q24.1 breast cancer susceptibility locus

Phoebe Lee; Yi-Ping Fu; Jonine D Figueroa; Ludmila Prokunina-Olsson; Jesus Gonzalez-Bosquet; Peter Kraft; Zhaoming Wang; Kevin B Jacobs; Meredith Yeager; Marie-Josèphe Horner; Susan E Hankinson; Amy Hutchinson; Nilanjan Chatterjee; Montserrat Garcia-Closas; Regina G Ziegler; Christine D Berg; Saundra S Buys; Catherine A McCarty; Heather Spencer Feigelson; Michael J Thun; Ryan Diver; Ross Prentice; Rebecca Jackson; Charles Kooperberg; Rowan Chlebowski; Jolanta Lissowska; Beata Peplonska; Louise A Brinton; Margaret Tucker; Joseph F Fraumeni Jr; Robert N Hoover; Gilles Thomas; David J Hunter; Stephen J Chanock

doi:10.1007/s00439-011-1088-4

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Fine mapping of 14q24.1 breast cancer susceptibility locus

Journal article

Open access

Peer reviewed

Fine mapping of 14q24.1 breast cancer susceptibility locus

Phoebe Lee, Yi-Ping Fu, Jonine D Figueroa, Ludmila Prokunina-Olsson, Jesus Gonzalez-Bosquet, Peter Kraft, Zhaoming Wang, Kevin B Jacobs, Meredith Yeager, Marie-Josèphe Horner, …

Human genetics, Vol.131(3), pp.479-490

03/2012

DOI: 10.1007/s00439-011-1088-4

PMCID: PMC4159746

PMID: 21959381

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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.

Haplotypes

Genetic Predisposition to Disease

Breast Neoplasms - genetics

HapMap Project

Chromosome Mapping - methods

Humans

Chromosomes, Human, Pair 14

Female

Polymorphism, Single Nucleotide

Case-Control Studies

Details

Title: Subtitle: Fine mapping of 14q24.1 breast cancer susceptibility locus
Creators: Phoebe Lee - Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
Yi-Ping Fu
Jonine D Figueroa
Ludmila Prokunina-Olsson
Jesus Gonzalez-Bosquet
Peter Kraft
Zhaoming Wang
Kevin B Jacobs
Meredith Yeager
Marie-Josèphe Horner
Susan E Hankinson
Amy Hutchinson
Nilanjan Chatterjee
Montserrat Garcia-Closas
Regina G Ziegler
Christine D Berg
Saundra S Buys
Catherine A McCarty
Heather Spencer Feigelson
Michael J Thun
Ryan Diver
Ross Prentice
Rebecca Jackson
Charles Kooperberg
Rowan Chlebowski
Jolanta Lissowska
Beata Peplonska
Louise A Brinton
Margaret Tucker
Joseph F Fraumeni Jr
Robert N Hoover
Gilles Thomas
David J Hunter
Stephen J Chanock
Resource Type: Journal article
Publication Details: Human genetics, Vol.131(3), pp.479-490
DOI: 10.1007/s00439-011-1088-4
PMID: 21959381
PMCID: PMC4159746
NLM abbreviation: Hum Genet
ISSN: 1432-1203
eISSN: 1432-1203
Publisher: Springer Science and Business Media LLC; Germany
Grant note: ZIA CP010126-14 / Intramural NIH HHS UO1 CA098710 / NCI NIH HHS CA87969 / NCI NIH HHS 5UO1CA098233 / NCI NIH HHS CA67262 / NCI NIH HHS CA50385 / NCI NIH HHS CA 65725 / NCI NIH HHS
Language: English
Date published: 03/2012
Academic Unit: Obstetrics and Gynecology
Record Identifier: 9983930328602771

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