BioMed Research International / 2014 / Article / Tab 4

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 HGVSGeneDetected with assayClinical significance  

c.68_69delAG (p.Glu23Valfs*16)BRCA1 NGSPathogenicSpanish recurrent mutation
c.211A>G (p.Arg71Gly)BRCA1 NGSPathogenicSpanish recurrent mutation
c.2410C>T (p.Gln804*)BRCA1 NGSPathogenicReported
c.2900_2901dupCT (p.Pro968Leufs*32)BRCA1 NGSPathogenicNovel
c.3406C>A p.(Pro1136Thr)BRCA1 NGSVUSNovel
c.3708T>G (p.Asn1236Lys)BRCA1 NGSVUSReported
c.4935G>C (p.Arg1645Ser)BRCA1 NGSVUSReported
c.5078_5080delCTG (p.1692del26)BRCA1 NGSPathogenicReported
c.5123C>A (p.Ala1708Glu)BRCA1 NGSPathogenicSpanish recurrent mutation
Δ Exons 16/17BRCA1 MAQ PathogenicReported

c.68-7T>ABRCA2 NGSVUSReported
c.754G>A (p.Asp252Asn)BRCA2 NGSVUSNovel
c.3264dupT (p.Gln1089Serfs*8)BRCA2 NGSPathogenicSpanish recurrent mutation
c.4030del6insC (p.Asn1344Hisfs*5)BRCA2 HPPathogenicNovel
c.4316C>A (p.Ala1439Asp)BRCA2 NGSVUSReported
c.4681C>A (p.His1561Asn)BRCA2 NGSVUSReported
c.4965C>A (p.Tyr1655*)BRCA2 NGSPathogenicReported
c.5189dupA (p.Asn1730Lysfs*12)BRCA2 HPPathogenicNovel
c.5722_5723delCT (p.Leu1908Argfs*1)BRCA2 HPPathogenicReported
c.6215C>G (p.Ser2072Cys)BRCA2 NGSVUSReported
c.6613G>A (p.Val2205Met)BRCA2 NGSVUSReported
c.7180A>T (p.Arg2394*)BRCA2 NGSPathogenicReported
c.7480C>T (p.Arg2494*)BRCA2 NGSPathogenicReported
c.8009delC (p.Ser2670Trpfs*2)BRCA2 NGSPathogenicNovel
c.9274delT (p.Tyr3092Ilefs*11)BRCA2 NGSPathogenicNovel

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