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Is mammographic breast density an endophenotype for breast cancer?


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Darcey, E, McCarthy, N, Moses, EK ORCID: 0000-0001-7781-4465, Saunders, C, Cadby, G and Stone, J 2021 , 'Is mammographic breast density an endophenotype for breast cancer?' , Cancers, vol. 13, no. 15 , pp. 1-11 , doi: 10.3390/cancers13153916.

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Mammographic breast density (MBD) is a strong and highly heritable predictor of breastcancer risk and a biomarker for the disease. This study systematically assesses MBD as an endophenotype for breast cancer—a quantitative trait that is heritable and genetically correlated with disease risk.Using data from the family-based kConFab Study and the 1994/1995 cross-sectional Busselton HealthStudy, participants were divided into three status groups—cases, relatives of cases and controls.Participant’s mammograms were used to measure absolute dense area (DA) and percentage densearea (PDA). To address each endophenotype criterion, linear mixed models and heritability analysiswere conducted. Both measures of MBD were significantly associated with breast cancer risk in twoindependent samples. These measures were also highly heritable. Meta-analyses of both studiesshowed that MBD measures were higher in cases compared to relatives (β = 0.48, 95% CI = 0.10, 0.86and β = 0.41, 95% CI = 0.06, 0.78 for DA and PDA, respectively) and in relatives compared to controls(β = 0.16, 95% CI = −0.24, 0.56 and β = 0.16, 95% CI = −0.21, 0.53 for DA and PDA, respectively).This study formally demonstrates, for the first time, that MBD is an endophenotype for breast cancer.

Item Type: Article
Authors/Creators:Darcey, E and McCarthy, N and Moses, EK and Saunders, C and Cadby, G and Stone, J
Keywords: mammographic breast density, breast cancer, risk factor, endophenotype
Journal or Publication Title: Cancers
Publisher: MDPI AG
ISSN: 2072-6694
DOI / ID Number: 10.3390/cancers13153916
Copyright Information:

Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons 4.0 International (CC BY 4.0) license (

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