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

BMC Medical Genetics

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

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

ISSN: 1471-2350