Determination of the prevalence breast cancer predisposition genes in South East Asian women and development of an Asian polygenic risk assessment tool

Although breast cancer incidence in Asians historically has been less than half of that in Europeans, it is rising by more than 3% per annum because of changing lifestyle such as decreased parity and breastfeeding, and increasing Westernisation and urbanisation. Today, more women die of breast cancer in Asia than in North America and Europe. In Malaysia, breast cancer is the most common cancer across all ethnicities, accounting for 31% of cancers in women, and it is the most common cause of cancer-related deaths. In part because of lack of funding in the national health services and lack of justification for population-based screening, only opportunistic screening is practiced, but this is suboptimal and inequitable. A viable alternative is to identify high-risk women who should be targeted for screening, particularly given the financial constraints that prohibit population-based screening.

We plan to bring technological advances in the understanding of breast cancer genes to develop tools to identify women at high-risk of breast cancer and to obtain individualised breast cancer risk estimates to enable shared decision-making between clinicians and patients.

This study will facilitate the wider use of clinical genetic testing and the development of informed risk-stratified approaches to screening.