SYSTEMIC REVIEW OF BRCA MUTATION AND VARIANTS OF UNKNOWN SIGNIFICANCE IN ASIA

Abstract

The prevalence of breast cancer in Asians is lower than in Caucasians. However, the age of onset has been noticeably younger in Asian population. Approximately 5-10% of breast cancers patients are due to inherited genetic predisposition caused by germline mutations of which majority are due to mutations of BRCA1 and BRCA2 genes. It has been reported that the spectrum of BRCA mutations varies depending on the geographical origin, populations or ethnic groups and there is a high likelihood of finding novel mutations in cohorts where genetic testing is still less accessible. Also it has also been suggested that although the prevalence of BRCA mutations are likely to be similar to Caucasians, BRCA2 mutations are more common in Asian cohorts. The ABRCA ( Asia BRCA Consortium) collected data available from 9 Asian countries (China, Hong Kong, Japan, Korea, Malaysia, Philippines, Singapore and Vietnam and Bangladesh) and also data in Asians residing in United States and Canada of participating centers. Literature review was performed to include reported BRCA mutations in Asians where available in order to present the updated mutation spectrum of BRCA mutations in breast cancer patients in Asians. Prevalence of BRCA mutations in different countries was compared This review divulge a unique spectrum of BRCA mutations among Asian population, implicating the importance of genetic testing for BRCA mutation in high-risk patients with breast cancer.