Genetic factors may play a large role in explaining variation in the mammographic areas of both dense and nondense tissue in the breast 

 


Percent mammographic density (PMD), defined by the radiological appearance of epithelial and stromal tissue in a mammogram, is an established and strong risk factor for breast cancer. Our previous twin studies comprised of 571 monozygous and 380 dizygous twin pairs recruited from Australia and North America showed that the heritability of PMD was 63%.  The computer assisted method that we have used to measure PMD generates a continuous quantitative measure of the area of the breast and the area of dense tissue. This allows separate examination of the factors associated with the absolute areas of dense and non-dense areas (total area minus dense area) in the mammogram. These associations are of interest because the association of PMD with risk of breast cancer must be explained by associations of one or both of the dense and non-dense areas with risk.  Here we found that after adjusting for measured determinants, heritability was estimated to be 65% (95% confidence interval (CI) 60-70%) for dense area and 66% (95% CI 61-71%) for non-dense area.  That is, differences in the amount of mammographically dense and non-dense (i.e.fatty) tissue in the breast across the population is likely due to genetic factors.  We also found that dense area and non-dense area are negatively correlated.  About two-thirds of the negative correlation between dense and non-dense area is explained by the same genetic factors influencing both traits, but in opposite directions.  These findings have implications for studies aimed at finding the genes involved in mammographic densities, and hence risk of breast cancer.   

 

Bibliographical reference:

Stone J, Dite GS, Gunasekara A, et al. The heritability of mammographically dense and nondense breast tissue. Cancer Epidemiol Biomarkers Prev, 2006 15(4):612-7

 

Jennifer Stone

Centre for Molecular Environmental Genetic and Analytic Epidemiology, The University of Melbourne, Carlton, Victoria, Australia