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GWAS Study

Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk.

Sieh W, Rothstein JH, Klein RJ et al.

33037222 PubMed ID
GWAS Study Type
24192 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

SW
Sieh W
RJ
Rothstein JH
KR
Klein RJ
AS
Alexeeff SE
SL
Sakoda LC
JE
Jorgenson E
MR
McBride RB
GR
Graff RE
MV
McGuire V
AN
Achacoso N
AL
Acton L
LR
Liang RY
LJ
Lipson JA
RD
Rubin DL
YM
Yaffe MJ
ED
Easton DF
SC
Schaefer C
RN
Risch N
WA
Whittemore AS
HL
Habel LA
Chapter II

Abstract

Summary of the research findings

Mammographic density (MD) phenotypes are strongly associated with breast cancer risk and highly heritable. In this GWAS meta-analysis of 24,192 women, we identify 31 MD loci at P < 5 × 10-8, tripling the number known to 46. Seventeen identified MD loci also are associated with breast cancer risk in an independent meta-analysis (P < 0.05). Mendelian randomization analyses show that genetic estimates of dense area (DA), nondense area (NDA), and percent density (PD) are all significantly associated with breast cancer risk (P < 0.05). Pathway analyses reveal distinct biological processes involving DA, NDA and PD loci. These findings provide additional insights into the genetic basis of MD phenotypes and their associations with breast cancer risk.

24,192 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

24192
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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