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

被引：30

作者：

Sieh, Weiva ^{[1
,2
]}

Rothstein, Joseph H. ^{[1
,2
]}

Klein, Robert J. ^{[2
]}

Alexeeff, Stacey E. ^{[3
]}

Sakoda, Lori C. ^{[3
]}

Jorgenson, Eric ^{[3
]}

McBride, Russell B. ^{[4
]}

Graff, Rebecca E. ^{[5
]}

McGuire, Valerie ^{[6
]}

Achacoso, Ninah ^{[3
]}

Acton, Luana ^{[3
]}

Liang, Rhea Y. ^{[7
]}

Lipson, Jafi A. ^{[7
]}

Rubin, Daniel L. ^{[7
,8
,9
]}

Yaffe, Martin J. ^{[10
,11
]}

Easton, Douglas F. ^{[12
,13
]}

Schaefer, Catherine ^{[3
]}

Risch, Neil ^{[3
,5
,14
]}

Whittemore, Alice S. ^{[6
,8
]}

Habel, Laurel A. ^{[3
]}

机构：

[1] Icahn Sch Med Mt Sinai, Dept Populat Hlth Sci & Policy, New York, NY 10029 USA

[2] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA

[3] Kaiser Permanente Northern Calif, Div Res, Oakland, CA USA

[4] Icahn Sch Med Mt Sinai, Dept Pathol, New York, NY 10029 USA

[5] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA

[6] Stanford Univ, Sch Med, Dept Epidemiol & Populat Hlth, Stanford, CA 94305 USA

[7] Stanford Univ, Sch Med, Dept Radiol, Stanford, CA 94305 USA

[8] Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USA

[9] Stanford Univ, Sch Med, Dept Med, Stanford, CA 94305 USA

[10] Univ Toronto, Dept Med Biophys, Toronto, ON, Canada

[11] Univ Toronto, Dept Med Imaging, Toronto, ON, Canada

[12] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge, England

[13] Univ Cambridge, Dept Oncol, Cambridge, England

[14] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA

来源：

NATURE COMMUNICATIONS | 2020年 / 11卷 / 01期

基金：

加拿大健康研究院; 欧盟地平线“2020”; 美国国家卫生研究院;

关键词：

GENOME-WIDE ASSOCIATION; GENETIC EPIDEMIOLOGY RESEARCH; GENOTYPE IMPUTATION; INTEGRATIVE ANALYSIS; ADULT HEALTH; HERITABILITY; LANDSCAPE; BIOMARKER; VARIANTS; TISSUE;

D O I：

10.1038/s41467-020-18883-x

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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<5x10(-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. Mammographic density represents one the strongest predictors of breast cancer risk. Here the authors perform genome-wide association study meta-analysis of women screened with full-field digital mammography and identify 31 previously unreported loci associated with mammographic density phenotypes.

引用

页数：11

共 50 条

[1] Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk
Weiva Sieh
Joseph H. Rothstein
Robert J. Klein
Stacey E. Alexeeff
Lori C. Sakoda
Eric Jorgenson
Russell B. McBride
Rebecca E. Graff
Valerie McGuire
Ninah Achacoso
Luana Acton
Rhea Y. Liang
Jafi A. Lipson
Daniel L. Rubin
Martin J. Yaffe
Douglas F. Easton
Catherine Schaefer
Neil Risch
Alice S. Whittemore
Laurel A. Habel
Nature Communications, 11
[2] Mammographic Density Phenotypes and Risk of Breast Cancer: A Meta-analysis
Pettersson, Andreas
Graff, Rebecca E.
Ursin, Giske
Silva, Isabel dos Santos
McCormack, Valerie
Baglietto, Laura
Vachon, Celine
Bakker, Marije F.
Giles, Graham G.
Chia, Kee Seng
Czene, Kamila
Eriksson, Louise
Hall, Per
Hartman, Mikael
Warren, Ruth M. L.
Hislop, Greg
Chiarelli, Anna M.
Hopper, John L.
Krishnan, Kavitha
Li, Jingmei
Li, Qing
Pagano, Ian
Rosner, Bernard A.
Wong, Chia Siong
Scott, Christopher
Stone, Jennifer
Maskarinec, Gertraud
Boyd, Norman F.
van Gils, Carla H.
Tamimi, Rulla M.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2014, 106 (05):
[3] Breast cancer susceptibility loci and mammographic density
Rulla M Tamimi
David Cox
Peter Kraft
Graham A Colditz
Susan E Hankinson
David J Hunter
Breast Cancer Research, 10
[4] Is mammographic density a marker of breast cancer phenotypes?
Kanbayti, Ibrahem H.
Rae, William I. D.
McEntee, Mark F.
Al-Foheidi, Meteb
Ashour, Sawsan
Turson, Smeera A.
Ekpo, Ernest U.
CANCER CAUSES & CONTROL, 2020, 31 (08) : 749 - 765
[5] Breast cancer susceptibility loci and mammographic density
Tamimi, Rulla M.
Cox, David
Kraft, Peter
Colditz, Graham A.
Hankinson, Susan E.
Hunter, David J.
BREAST CANCER RESEARCH, 2008, 10 (04)
[6] Is mammographic density a marker of breast cancer phenotypes?
Ibrahem H. Kanbayti
William I. D. Rae
Mark F. McEntee
Meteb Al-Foheidi
Sawsan Ashour
Smeera A. Turson
Ernest U. Ekpo
Cancer Causes & Control, 2020, 31 : 749 - 765
[7] Breast Cancer Risk Associations with Digital Mammographic Density by Pixel Brightness Threshold and Mammographic System
Nguyen, Tuong L.
Choi, Yoon-Ho
Aung, Ye K.
Evans, Christopher F.
Trinh, Nhut H.
Li, Shuai
Dite, Gillian S.
Kim, Myeong-Seong
Brennan, Patrick C.
Jenkins, Mark A.
Sung, Joohon
Song, Yun-Mi
Hopper, John L.
RADIOLOGY, 2018, 286 (02) : 433 - 442
[8] Mammographic density and breast cancer risk
Boyd, NF
BREAST CANCER RESEARCH AND TREATMENT, 2004, 88 : S3 - S3
[9] Mammographic density and breast cancer risk
van Gils, CH
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, 1999, 86 (02) : 127 - 128
[10] Mammographic density and risk of breast cancer
Stone, J
Hislop, G
Fishell, EK
Jong, RA
Minkin, S
Martin, L
Yaffe, MJ
Boyd, NF
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2002, 11 (10) : 1225S - 1225S

← 1 2 3 4 5 →