Familial Aspects of Mammographic Density Measures Associated with Breast Cancer Risk.
Authors
Nguyen, Tuong L
Dowty, James G
Trinh, Ho N
Evans, Christopher F
Tan, Maxine
Jenkins, Mark A
Giles, Graham G
Southey, Melissa C
Hopper, John L
Publication Date
2022-03-14Journal Title
Cancers (Basel)
ISSN
2072-6694
Publisher
MDPI AG
Volume
14
Issue
6
Language
en
Type
Article
This Version
VoR
Metadata
Show full item recordCitation
Nguyen, T. L., Li, S., Dowty, J. G., Dite, G. S., Ye, Z., Nguyen-Dumont, T., Trinh, H. N., et al. (2022). Familial Aspects of Mammographic Density Measures Associated with Breast Cancer Risk.. Cancers (Basel), 14 (6) https://doi.org/10.3390/cancers14061483
Abstract
Cumulus, Cumulus-percent, Altocumulus, Cirrocumulus, and Cumulus-white are mammogram risk scores (MRSs) for breast cancer based on mammographic density defined in effect by different levels of pixel brightness and adjusted for age and body mass index. We measured these MRS from digitized film mammograms for 593 monozygotic (MZ) and 326 dizygotic (DZ) female twin pairs and 1592 of their sisters. We estimated the correlations in relatives (r) and the proportion of variance due to genetic factors (heritability) using the software FISHER and predicted the familial risk ratio (FRR) associated with each MRS. The ρ estimates ranged from: 0.41 to 0.60 (standard error [SE] 0.02) for MZ pairs, 0.16 to 0.26 (SE 0.05) for DZ pairs, and 0.19 to 0.29 (SE 0.02) for sister pairs (including pairs of a twin and her non-twin sister), respectively. Heritability estimates were 39% to 69% under the classic twin model and 36% to 56% when allowing for shared non-genetic factors specific to MZ pairs. The FRRs were 1.08 to 1.17. These MRSs are substantially familial, due mostly to genetic factors that explain one-quarter to one-half as much of the familial aggregation of breast cancer that is explained by the current best polygenic risk score.
Keywords
breast cancer, cirrocumulus, cumulus, familial risk ratio, heritability, mammogram risk score, mammographic density, OPERA
Sponsorship
Cancer Council Victoria (AF7305)
National Institutes of Health (R01CA159868)
National Health and Medical Research Council (APP809195)
Victorian Cancer Agency (ECRF19020)
Identifiers
External DOI: https://doi.org/10.3390/cancers14061483
This record's URL: https://www.repository.cam.ac.uk/handle/1810/337735
Rights
Licence:
https://creativecommons.org/licenses/by/4.0/
Statistics
Total file downloads (since January 2020). For more information on metrics see the
IRUS guide.