/ mutation spectrum analysis in South Asia: a systematic review.

Objective: Breast cancer (BC) is the most common form of cancer among Asian females. Mutations in the / genes are often observed in BC cases and largely increase the lifetime risk of having BC. Because of the paucity of high-quality data on the molecular spectrum of mutations in South Asian populations, we aimed to explore these mutations among South Asian countries.

Methods: A systematic literature search was performed for the and gene mutation spectrum using electronic databases such as PubMed, EMBASE, and Google Scholar. Twenty studies were selected based on specific inclusion and exclusion criteria.

Results: The 185delAG (c.68_69del) mutation in exon 2 of was the most common recurrent mutation and founder mutation found. Various intronic variants, variants of unknown significance, large genomic rearrangements, and polymorphisms were also described in some studies.

Conclusions: The South Asian population has a wide variety of genetic mutations of and that differ according to countries and ethnicities. A stronger knowledge of various population-specific mutations in these cancer susceptibility genes can help provide efficient strategies for genetic testing.