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Is mammographic breast density an endophenotype for breast cancer?


Darcey, E and McCarthy, N and Moses, EK and Saunders, C and Cadby, G and Stone, J, Is mammographic breast density an endophenotype for breast cancer?, Cancers, 13, (15) pp. 1-11. ISSN 2072-6694 (2021) [Refereed Article]

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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 (

DOI: doi:10.3390/cancers13153916


Mammographic breast density (MBD) is a strong and highly heritable predictor of breast cancer 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 Health Study, 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 dense area (PDA). To address each endophenotype criterion, linear mixed models and heritability analysis were conducted. Both measures of MBD were significantly associated with breast cancer risk in two independent samples. These measures were also highly heritable. Meta-analyses of both studies showed that MBD measures were higher in cases compared to relatives (β = 0.48, 95% CI = 0.10, 0.86 and 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 Details

Item Type:Refereed Article
Keywords:mammographic breast density, breast cancer, risk factor, endophenotype
Research Division:Biomedical and Clinical Sciences
Research Group:Oncology and carcinogenesis
Research Field:Cancer genetics
Objective Division:Health
Objective Group:Clinical health
Objective Field:Diagnosis of human diseases and conditions
UTAS Author:Moses, EK (Professor Eric Moses)
ID Code:146916
Year Published:2021
Web of Science® Times Cited:2
Deposited By:Menzies Institute for Medical Research
Deposited On:2021-10-04
Last Modified:2022-08-29
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