Application of Personalised Medicine Using an Integrated Service and Research Approach: Evaluation of Vitamin D in Breast Cancer Patients
Prof Maritha Kotze
Title of the project
Application of personalised medicine using an integrated service and research approach: Evaluation of vitamin D in breast cancer patients.
The high global incidence of cancer drives the development of novel approaches for prevention and treatment at an affordable yet efficient manner. BRCA1 and BRCA2 are the most frequently mutated tumour suppressor genes in familial breast cancer and loss of expression is associated with an increased risk of many common cancers. Although carriers of BRCA1/2 germline mutations have a significantly increased lifetime risk (60-85%), incomplete mutation penetrance implicates the involvement of other genetic and environmental factors as modifiers of disease risk and metastatic potential. These include vitamin D deficiency suggested to promote malignancy by causing DNA repair defects and activation of mechanisms underlying drug resistance (Graziano et al. 2016).
In this study the genetic contribution to vitamin D levels will be studied in relation to breast cancer development, recurrence and treatment response. The aim is to determine the measurement range associated with high-risk clinical outcomes. Breast cancer patients with vitamin D deficiency (<20 ng/ml) at increased risk for adverse outcome will be selected for whole exome sequencing (WES) and their genetic profile compared with vitamin D sufficient (>30 ng/ml) patients.