A recent study published in the Cancer Journal of the Multidisciplinary Digital Publishing Institute, proposed that mammographic breast density (MBD) is an endophenotype for breast cancer. An endophenotype is a biological trait which is significantly heritable and closely associated with the disease. The study included a meta-analysis of data from the family-based kConFab Study and the 1994/1995 cross-sectional Busselton Health Study (BHS).
Mammographic breast density is a significant biomarker and a highly heritable factor associated with prediction of breast cancer risk. The study involved systemic assessment of MBD as a quantitative trait. The participants of the study were mainly divided into three groups: cases, relatives of cases and controls. All the relatives from both the studies were free of breast cancer.
Mammograms of these participants were selected based on the closest date to epidemiological data collection. These mammograms were then used to evaluate the absolute dense area (DA) and percentage dense area (PDA). Each endophenotype criterion was assessed using different types of heritability analysis.
Information collected from the kConFab group was used to create a record and assign participants to each status group. Information from the BHS group was analyzed using a different method before allocating participants to status groups.
The results of the study showed that both absolute and percent dense area measures met majority of the criteria of being identified as an endophenotype for breast cancer. Thus, the results of the study suggest that MBD dense area and percent dense area were both positively associated with increased breast cancer risk irrespective of age and Body Mass Index (BMI).
Source: Darcey E, McCarthy N, Moses E, Saunders C, Cadby G, Stone J. Is Mammographic Breast Density an Endophenotype for Breast Cancer? Cancers (Basel). (2021); 13(15):3916.
Source link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8345387/
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