Table 1 List of clinically relevant mutations within the BRCA1, BRCA2 and TP53 genes in resected breast tumor tissues in our Bangladeshi cohort
Sample Id | Gene Name | Coordinate [position] (hg19) | Mutation Types | Significance | Exon | Nucleotide change | Amino acid change |
|---|---|---|---|---|---|---|---|
1 | TP53 | 7,577,548 | Nonsynonymous | pathogenic | 7 | c.733G > A | p.Gly245Ser |
2 | TP53 | 7,578,490 | frameshift insertion* | pathogenic | 5 | c.322dupG | p.Val108Glyfs* |
BRCA1 | 41,267,761 | Nonsynonymous | pathogenic | 3 | c.116G > A | p.Cys39Tyr | |
3 | BRCA2 | 32,910,951 | Nonsynonymous | VUS | 11 | c.2459A > G | p.Asp820Gly |