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.
| Gene | No. detected | % | Variant | Type | Classification | No. detected |
| BRCA1 | 12 | 23 | c.68_69del (p.Glu23Valfs∗17) | DEL | P | 1 | c.211A > G (p.Arg71Gly) | SNV | P | 1 | c.406dupA (p.Arg136Lysfs∗6) | INS | P | 1 | c.427G > T (p.Glu143∗) | SNV | P | 1 | c.1960A > T (p.Lys654∗) | SNV | P | 1 | c.3193dup (p.Asp1065Glyfs∗2) | INS | P | 1 | c.4327C > T (p.Arg1443∗) | SNV | P | 2 | c.5266dup (p.Gln1756Profs∗74) | INS | P | 1 | c.5353C > T (p.Gln1785∗) | SNV | P | 1 | c.3598C > T (p.Gln1200∗) | SNV | P | 1 | Exon 13 Duplication | CNV | P | 1 |
| BRCA2 | 12 | 23 | c.755_758del (p.Asp252Valfs∗24) | DEL | P | 1 | c.1265del (p.Asn422Ilefs∗8) | DEL | P | 1 | c.3922G > T (p.Glu1308∗) | SNV | P | 1 | c.4284dup (p.Gln1429Serfs∗9) | INS | P | 1 | c.4631dup (p.Asn1544Lysfs∗4) | INS | P | 1 | c.5290_5291del (p.Ser1764Lysfs∗3) | DEL | P | 1 | c.5385dup (p.Asp1796Argfs∗11) | INS | P | 1 | c.5681dup (p.Tyr1894∗) | INS | P | 1 | c.5682C > G (p.Tyr1894∗) | SNV | P | 1 | c.5946del (p.Ser1982Argfs∗22) | DEL | P | 2 | c.6373dup (p.Thr2125Asnfs∗4) | INS | P | 1 |
| MUTYH | 9 | 17 | c.536A > G (p.Tyr179Cys) | SNV | P | 1 | c.1187G > A (p.Gly396Asp) | SNV | P | 6 | c.1214C > T (p.Pro405Leu) | SNV | P | 1 | c.1477G > T (p.Val493Phe) | SNV | P | 1 |
| CHEK2 | 8 | 15 | c.444+1G > A | SNV | P | 1 | c.793–1G > A | SNV | P | 1 | c.1100delC(p.Thr367Metfs∗15) | DEL | P | 5 | c.1169A > C (p.Tyr390Ser) | SNV | LP | 1 |
| ATM | 2 | 4 | c.7638_7646del (p.Arg2547_Ser2549del) | DEL | P | 1 | c.8395_8404del (p.Phe2799Lysfs∗4) | DEL | P | 1 |
| PALB2 | 2 | 4 | c.2642_2645dup (p.Cys882Trpfs∗3) | INS | P | 1 | c.3256C > T (p.Arg1086∗) | SNV | P | 1 |
| PMS2 | 2 | 4 | c.809C > G (p.Ser270∗) | SNV | P | 1 | Exon 7–8 deletion | CNV | P | 1 |
| CDH1 | 1 | 2 | c.1565+1G > C | SNV | P | 1 |
| BARD1 | 1 | 2 | c.1690C > T (p.Gln564∗) | SNV | P | 1 |
| CDKN2A | 1 | 2 | c.301G > T (p.Gly101Trp) (p16) | SNV | P | 1 |
| MLH1 | 1 | 2 | c.793C > T (p.Arg265Cys) | SNV | P | 1 |
| RAD51C | 1 | 2 | c.773G > A (p.Arg258His) | SNV | LP | 1 |
| RET | 1 | 2 | c.2410G > A (p.Val804Met) | SNV | P | 1 |
| Total | 53 | 100 | | | | 53 |
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P, Pathogenic; LP, likely pathogenic.
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