Genetic Testing in Hereditary Breast Cancer in Asia

Abstract

Background: Data from whole exome sequencing and whole genome sequencing presented other predisposition genes, besides BRCA genes, increased the risk of breast cancer. Generation of overwhelming amount of genetic data are imposed challenges in the interpretation of test results and identification of molecular-driven pathways for personalized medicine, especially when gene mutations (e.g. MUYTH mutation) are found with low penetrance and unknown pathogenicity. Currently, there is no standard guidelines for clinical management and genetic counseling of some of the variants and variant of uncertain significance (VUS). The prevalence of germline mutation in Asian is similar to the West, yet there are disparities in HBOC-related mutation spectrum across different ethnicity. For instance, PALB2 and RAD51D mutations are commonly seen in Asian, CHEK2 and PMS2 mutations are more frequently seen in Americans. Understanding the mutation spectrum improves early diagnosis and clinical management in the region, however, lack of access to genetic testing and counseling are the common barriers for implementing genetic screening in Asia. It is important to implement genetic testing as part of the health care services, this need to be done together with the government and healthcare providers by increasing the public awareness and counseling resources, so that more of the high-risk patients can be benefited and moving towards personalized medicine. Improvements in variant interpretation and bioinformatics pipelines