Breast stem cell markers and cancer stem cells in carriers of BRCA1, BRCA2 and non-BRCA1/2 mutations

Start Year: 2006
Finish Year: 2009
Chief Investigator: Dr Elgene Lim
Grant Type: Fellowships
Institution: Walter and Eliza Hall Institute of Medical Research

Doctoral Research Scholarship

Breast stem cells are required for normal development and maintenance of the organ. Some breast tumours are now believed to originate in a breast stem cell or ‘daughter’ cell, which becomes the target of progressive genetic changes that ultimately lead to cancer.

This emerging breast cancer stem cell model is based on studies in other tumour types and the recent identification of ‘tumour-initiating cells’ resident within human breast cancer. No data on cancer stem cells are available for tumours arising in patients with a strong hereditary susceptibility to breast cancer, which often occur at a very early age. Such individuals carry an alteration in a gene such as BRCA1, BRCA2, or an as yet unidentified gene. Tumours that arise in BRCA1 carriers have a distinctive appearance down the microscope, which has led to speculation that they originate in a stem cell.

Dr Lim is studying the breast stem cell in BRCA1/2 carriers to determine whether it has distinct features compared to ‘normal’ breast tissue as well as stem cell characteristics in tumours collected from women with an altered BRCA1 or BRCA2 gene at different ages. Data on the composition of the breast stem cell and cancer stem cell could lead to new breast cancer markers and new therapeutic strategies to target both hereditary and sporadic forms of breast cancer.