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Table 2 List of clinically relevant variants detected within the BRCA1, BRCA2 and ERBB2 genes applying targeted sequencing from blood derived DNA samples in our breast cancer cohort recruited from Bangladesh

From: Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort

Sample Id Gene name Coordinate [position] (hg19) Mutation Types Significance Exon Nucleotide change Amino acid change
1 BRCA2 32,931,983 Stopgain pathogenic 16 c.7722 G > A p.Trp2574Ter
2 BRCA2 32,906,729 Nonsynonymous VUS 10 c.1114 A > C p.Asn372His
3 BRCA2 32,907,407 Nonsynonymous VUS 10 c.1792A > G p.Thr598Ala
4 BRCA1 41,222,983 Nonsynonymous* Pathogenic 16 c.5011 T > C p.Met1671Val
5 BRCA1 41,245,262 Nonsynonymous VUS 10 c.2286A > T p.Arg762Ser
6 BRCA1 41,243,553 Nonsynonymous VUS 10 c.3995 C > A p.Gly1332Val
7 BRCA2 32,906,916–32,906,923 frameshift deletion * Pathogenic 10 c.1301_1308del AAAGAAAG p.Lys436Phefs*
8 BRCA1 41,246,489 Stopgain pathogenic 10 c.1058G > A p.Trp353Ter
9 BRCA2 32,899,247 frameshift deletion * Pathogenic 4 c.351_352delTC p.Arg118Hisfs*
10 ERBB2 37,880,988 Nonsynonymous* VUS 24 c.2272 G > C p.Val758Leu
11 BRCA2 32,914,943 Nonsynonymous* Pathogenic 11 c.6451 G > A p.Val2151Ile
  1. *defines the novel variants in our cohort