Research Article

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing

Table 4

Pathogenic/likely pathogenic variants detected in the 500 consecutive specimens.

GeneNo. detected%VariantTypeClassificationNo. detected

BRCA11223c.68_69del (p.Glu23Valfs17)DELP1
c.211A > G (p.Arg71Gly)SNVP1
c.406dupA (p.Arg136Lysfs6)INSP1
c.427G > T (p.Glu143)SNVP1
c.1960A > T (p.Lys654)SNVP1
c.3193dup (p.Asp1065Glyfs2)INSP1
c.4327C > T (p.Arg1443)SNVP2
c.5266dup (p.Gln1756Profs74)INSP1
c.5353C > T (p.Gln1785)SNVP1
c.3598C > T (p.Gln1200)SNVP1
Exon 13 DuplicationCNVP1

BRCA21223c.755_758del (p.Asp252Valfs24)DELP1
c.1265del (p.Asn422Ilefs8)DELP1
c.3922G > T (p.Glu1308)SNVP1
c.4284dup (p.Gln1429Serfs9)INSP1
c.4631dup (p.Asn1544Lysfs4)INSP1
c.5290_5291del (p.Ser1764Lysfs3)DELP1
c.5385dup (p.Asp1796Argfs11)INSP1
c.5681dup (p.Tyr1894)INSP1
c.5682C > G (p.Tyr1894)SNVP1
c.5946del (p.Ser1982Argfs22)DELP2
c.6373dup (p.Thr2125Asnfs4)INSP1

MUTYH917c.536A > G (p.Tyr179Cys)SNVP1
c.1187G > A (p.Gly396Asp)SNVP6
c.1214C > T (p.Pro405Leu)SNVP1
c.1477G > T (p.Val493Phe)SNVP1

CHEK2815c.444+1G > ASNVP1
c.793–1G > ASNVP1
c.1100delC(p.Thr367Metfs15)DELP5
c.1169A > C (p.Tyr390Ser)SNVLP1

ATM24c.7638_7646del (p.Arg2547_Ser2549del)DELP1
c.8395_8404del (p.Phe2799Lysfs4)DELP1

PALB224c.2642_2645dup (p.Cys882Trpfs3)INSP1
c.3256C > T (p.Arg1086)SNVP1

PMS224c.809C > G (p.Ser270)SNVP1
Exon 7–8 deletionCNVP1

CDH112c.1565+1G > CSNVP1

BARD112c.1690C > T (p.Gln564)SNVP1

CDKN2A12c.301G > T (p.Gly101Trp) (p16)SNVP1

MLH112c.793C > T (p.Arg265Cys)SNVP1

RAD51C12c.773G > A (p.Arg258His)SNVLP1

RET12c.2410G > A (p.Val804Met)SNVP1

Total5310053

P, Pathogenic; LP, likely pathogenic.