Research Projects

Breast Cancer Research – Prof Elizabeth Jansen van Rensburg

Breast Cancer Research – Prof Elizabeth Jansen van Rensburg

Prof Lizette Jansen van Rensburg

Prof Elizabeth Jansen van Rensburg

Title of the project

RAD51C-gene in South African Breast/Ovarian Cancer Susceptibility

Project Description

Much progress has been made in recent years in the identification of genetic lesions that predispose individuals to breast cancer. The purpose of this study is to determine what proportion of the overall burden of breast cancer in South African women is attributable to mutations in breast cancer predisposition genes. Overall this data will allow us to assess the potential clinical and public health significance of these genes in South African women with breast cancer.

It has been estimated that 15 to 20% of all female breast cancers are due to inheritance of a mutation in either of two genes called BRCA1 and BRCA2. We have previously shown that these two genes account for 66% of high-risk South African breast cancer families. An interaction partner of the BRCA2 protein, PALB2, was shown to be involved in approximately 2% of South African early-onset breast cancer cases, without a strong family history of breast cancer.

Recently it was shown that another gene, RAD51C, is also associated with predisposition to breast and ovarian cancer. Variation in the RAD51C gene may contribute to breast cancer susceptibility in the general South African population and therefore we are investigating this gene.

Identification of variants within the RAD51C gene will lead to the development of additional screening techniques to identify high-risk individuals who, just like the PALB2- and BRCA-mutation positive women, can be offered counselling and help with the management of their risks, i.e., early detection and also possible prophylactic options for prevention.

Non-scientific report

Much progress has been made in recent years in the identification of genetic faults (mutations) that predispose individuals to breast cancer. With this study we want to determine what proportion of the overall burden of breast cancer in South African women is attributable to faults in breast cancer predisposition genes.

It has been estimated that 15 to 20% of all female breast cancers are due to inheritance of a fault in either of two genes called BRCA1 and BRCA2. We have previously shown that these two genes account for 67% of high-risk South African breast cancer families. An interaction partner of the BRCA2 protein, PALB2, was shown to be involved in approximately 2% of South African early-onset breast cancer cases, without a strong family history of breast cancer.

Recently it was shown that another gene, RAD51C, when faulty is associated with predisposition to breast and ovarian cancer. Variation in the RAD51C gene may contribute to breast cancer susceptibility in the general South African population and therefore we are investigating this gene. To date we have found that faults in RAD51C account for approximately 1,4% of high-risk South African breast cancer families.

These women and their at-risk family members can now just like the PALB2- and BRCA-mutation positive women, be offered counseling and help with the management of their risks, i.e., early detection and also possible prophylactic options for prevention. The recent Angelina Jolie press coverage concerning her breast cancer risks and decision to have preventative surgeries, because of her being a carrier of a faulty BRCA1 gene, comes to mind.

Peer-reviewed Publications

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