Genetic Testing in Hereditary Breast and Ovarian Cancer Using Massive Parallel Sequencing

Table 4

Summary of BRCA1 and BRCA2 pathogenic mutations and variants of unknown significance (VUS) detected using our proposed workflow.

Variant HGVS	Gene	Detected with assay	Clinical significance
c.68_69delAG (p.Glu23Valfs*16)	BRCA1	NGS	Pathogenic	Spanish recurrent mutation
c.211A>G (p.Arg71Gly)	BRCA1	NGS	Pathogenic	Spanish recurrent mutation
c.2410C>T (p.Gln804*)	BRCA1	NGS	Pathogenic	Reported
c.2900_2901dupCT (p.Pro968Leufs*32)	BRCA1	NGS	Pathogenic	Novel
c.3406C>A p.(Pro1136Thr)	BRCA1	NGS	VUS	Novel
c.3708T>G (p.Asn1236Lys)	BRCA1	NGS	VUS	Reported
c.4935G>C (p.Arg1645Ser)	BRCA1	NGS	VUS	Reported
c.5078_5080delCTG (p.1692del26)	BRCA1	NGS	Pathogenic	Reported
c.5123C>A (p.Ala1708Glu)	BRCA1	NGS	Pathogenic	Spanish recurrent mutation
Δ Exons 16/17	BRCA1	MAQ	Pathogenic	Reported
c.68-7T>A	BRCA2	NGS	VUS	Reported
c.754G>A (p.Asp252Asn)	BRCA2	NGS	VUS	Novel
c.3264dupT (p.Gln1089Serfs*8)	BRCA2	NGS	Pathogenic	Spanish recurrent mutation
c.4030del6insC (p.Asn1344Hisfs*5)	BRCA2	HP	Pathogenic	Novel
c.4316C>A (p.Ala1439Asp)	BRCA2	NGS	VUS	Reported
c.4681C>A (p.His1561Asn)	BRCA2	NGS	VUS	Reported
c.4965C>A (p.Tyr1655*)	BRCA2	NGS	Pathogenic	Reported
c.5189dupA (p.Asn1730Lysfs*12)	BRCA2	HP	Pathogenic	Novel
c.5722_5723delCT (p.Leu1908Argfs*1)	BRCA2	HP	Pathogenic	Reported
c.6215C>G (p.Ser2072Cys)	BRCA2	NGS	VUS	Reported
c.6613G>A (p.Val2205Met)	BRCA2	NGS	VUS	Reported
c.7180A>T (p.Arg2394*)	BRCA2	NGS	Pathogenic	Reported
c.7480C>T (p.Arg2494*)	BRCA2	NGS	Pathogenic	Reported
c.8009delC (p.Ser2670Trpfs*2)	BRCA2	NGS	Pathogenic	Novel
c.9274delT (p.Tyr3092Ilefs*11)	BRCA2	NGS	Pathogenic	Novel

NGS: next generation sequencing; HP: homopolymer; MAQ: multiple amplicon quantification.