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