@article{301b780649234d8ebd93579999d8d59d,
title = "Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk",
abstract = "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.",
author = "Weiva Sieh and Rothstein, {Joseph H.} and Klein, {Robert J.} and Alexeeff, {Stacey E.} and Sakoda, {Lori C.} and Eric Jorgenson and McBride, {Russell B.} and Graff, {Rebecca E.} and Valerie McGuire and Ninah Achacoso and Luana Acton and Liang, {Rhea Y.} and Lipson, {Jafi A.} and Rubin, {Daniel L.} and Yaffe, {Martin J.} and Easton, {Douglas F.} and Catherine Schaefer and Neil Risch and Whittemore, {Alice S.} and Habel, {Laurel A.}",
note = "Funding Information: We thank Priyanka Nandakumar, Mark Westley, Marvella Villase{\~n}or, Marc Sofilos, Shannon Walters, Anoma Gunasekara, and Gordon Mawdsley for their technical expertise and assistance. This study was supported by grants from the National Institutes of Health (R01CA166827, R01CA168893, R01CA237541, RC2AG036607, K07CA143047), Robert Wood Johnson Foundation, Ellison Medical Foundation, Wayne and Gladys Valley Foundation, and Kaiser Permanente National and Regional Community Benefit Programs. The breast cancer genome-wide association analyses were conducted by the BCAC and were supported by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the {\textquoteleft}Minist{\`e}re de l′ {\'E}conomie, de la Science et de l′Innovation du Qu{\'e}bec{\textquoteright} through Genome Qu{\'e}bec and grant PSR-SIIRI-701, National Institutes of Health (U19CA148065, X01HG007492), Cancer Research UK (C1287/A10118, C1287/A16563, C1287/A10710) and European Union (HEALTH-F2-2009-223175 and H2020 633784 and 634935); all studies and funders are listed15. Publisher Copyright: {\textcopyright} 2020, The Author(s).",
year = "2020",
month = dec,
day = "1",
doi = "10.1038/s41467-020-18883-x",
language = "English",
volume = "11",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "Nature Publishing Group",
number = "1",
}