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GWAS Study

Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.

Lindström S, Thompson DJ, Paterson AD et al.

25342443 PubMed ID
GWAS Study Type
17979 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

LS
Lindström S
TD
Thompson DJ
PA
Paterson AD
LJ
Li J
GG
Gierach GL
SC
Scott C
SJ
Stone J
DJ
Douglas JA
DI
dos-Santos-Silva I
FP
Fernandez-Navarro P
VJ
Verghase J
SP
Smith P
BJ
Brown J
LR
Luben R
WN
Wareham NJ
LR
Loos RJ
HJ
Heit JA
PV
Pankratz VS
NA
Norman A
GE
Goode EL
CJ
Cunningham JM
DM
deAndrade M
VR
Vierkant RA
CK
Czene K
FP
Fasching PA
BL
Baglietto L
SM
Southey MC
GG
Giles GG
SK
Shah KP
CH
Chan HP
HM
Helvie MA
BA
Beck AH
KN
Knoblauch NW
HA
Hazra A
HD
Hunter DJ
KP
Kraft P
PM
Pollan M
FJ
Figueroa JD
CF
Couch FJ
HJ
Hopper JL
HP
Hall P
ED
Easton DF
BN
Boyd NF
VC
Vachon CM
TR
Tamimi RM
Chapter II

Abstract

Summary of the research findings

Mammographic density reflects the amount of stromal and epithelial tissues in relation to adipose tissue in the breast and is a strong risk factor for breast cancer. Here we report the results from meta-analysis of genome-wide association studies (GWAS) of three mammographic density phenotypes: dense area, non-dense area and percent density in up to 7,916 women in stage 1 and an additional 10,379 women in stage 2. We identify genome-wide significant (P<5 × 10(-8)) loci for dense area (AREG, ESR1, ZNF365, LSP1/TNNT3, IGF1, TMEM184B and SGSM3/MKL1), non-dense area (8p11.23) and percent density (PRDM6, 8p11.23 and TMEM184B). Four of these regions are known breast cancer susceptibility loci, and four additional regions were found to be associated with breast cancer (P<0.05) in a large meta-analysis. These results provide further evidence of a shared genetic basis between mammographic density and breast cancer and illustrate the power of studying intermediate quantitative phenotypes to identify putative disease-susceptibility loci.

7,600 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

17979
Total Participants
GWAS
Study Type
Yes
Replicated
343 European ancestry individuals, 1,472 Old Order Amish individuals, 8,564 individuals
Replication Participants
European, Other
Ancestry
Sweden, U.S., Poland, U.K., Spain, Australia
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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