Background: Breast cancer (BC) is the most common cancer in women globally. In low- and middle-income countries, the use of appropriate breast cancer genetics services for screening and personalized treatments is severely lacking. This review is aimed to assess and summarize the reported mutation profiles of Malaysian BC patients.
Methods: A literature search was performed in PubMed and Google Scholar from 2002 to 2019 using a set of keywords and MESH terms.
Results: Data from 14 eligible studies are presented here. A total of 28 genes were studied in Malaysian BC patients in which 445 genetic alterations (229 deleterious, 209 variants with unknown clinical significance (VUC), and seven protective variants) have been reported, with 73 being novel (16% novel). The frequency ranged from 0.2% to 76% for VUC and 2.1 to 15% for deleterious variations. Only BRCA1, BRCA2, PALB2, APOBEC3B, and P53 have been associated with BC risk in Malaysian patients. Nine of these studies were conducted using the overlapped source of patients, which may limit the generalizability of the findings to the whole population of Malaysia.
Conclusion: Information on the genetic basis of BC in the Malaysian population is scant. Multidisciplinary efforts with appropriate sample selection techniques and study design with multicenter collaboration are needed to address this issue. Out of thirteen high- and moderated-penetrance pathogenic mutations for BC, only five have been linked to Malaysians’ BC susceptibility. The findings from this review is valuable for decision-makers, researchers, and physicians, to enhance the research plans and utility of genetic services for screening and prevention.