Prof Lizette Jv Rensburg – Breast/ovarian cancer susceptibility in SA women: Clinical utility of multi-gene panel testing
Prof Lizette Jansen van Rensburg
- Department of Genetics/ Human Genetics section, Cancer Genetics Research, University of Pretoria and Steve Biko Academic Hospital
Title of the project
Breast/ovarian cancer susceptibility in South African women: Clinical utility of multi-gene panel testing
Breast cancer is the most common cancer worldwide. In South Africa, breast cancer ranks first in White, Coloured and Asian women and second in Black females. Carcinogenesis is a multistage process, which results from a process of genetic changes, some inherited, some induced by environmental exposures and some occurring by chance. Much progress has been made in recent years in the identification of genetic lesions that predispose individuals to cancer. It has been estimated that ~ 20% of female breast cancers are due to inheritance of a number of highly penetrant mutations. Genetic testing for cancer predisposition genes is an important advance in cancer medicine. With the advent of next-generation sequencing, simultaneous sequencing of multiple cancer susceptibility genes is available through multiplex panels at a cost comparable to that for single gene testing. As we have been investigating breast (and ovarian) cancer susceptibility in South Africans (with the support of CANSA grants) for some time now and have gathered a substantial volume of data/information, we are of the opinion that it is now an opportune time to embark on a translational study. This study will investigate the clinical utility of multi-gene targeted next-generation DNA sequencing in clinical practice, specifically with regards to applications for breast surgeons and the wider breast cancer multidisciplinary team.
We (multidisciplinary team) propose to determine how often panel-based mutation screening (using targeted next generation sequencing of cancer predisposition genes) will identify clinically actionable mutations among patients newly diagnosed with breast or ovarian cancer (unselected for family history of breast or ovarian cancer). This is in order to investigate the feasibility of translating this type of testing to clinical practice that will provide breast cancer units (surgeons, oncologists, etc) with enhanced ability to make informed decisions about patient care.