Research Article
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing
Table 2
SNV and Indel variants used for accuracy study.
| | Gene | Variant | No. specimen tested |
| | APC | c.1458T > C (p.Tyr486Tyr) | 2 | | APC | c.1635G > A (p.Ala545Ala) | 3 | | APC | c.1958 + 8T > C (p.?) | 1 | | APC | c.2547_2550del (p.Asp849Glufs∗11) | 1 | | APC | c.3468_3470del (p.Glu1157del) | 1 | | APC | c.4398del (p.Pro1467Leufs∗6) | 1 | | APC | c.4479G > A (p.Thr1493Thr) | 3 | | APC | c.5034G > A (p.Gly1678Gly) | 3 | | APC | c.5268T > G (p.Ser1756Ser) | 3 | | APC | c.5465T > A (p.Val1822Asp) | 4 | | APC | c.5880G > A (p.Pro1960Pro) | 3 | | APC | c.6281del (p.Pro2094Leufs∗18) | 1 | | BRCA1 | c.1175_1214del40 (p.Leu392Glnfs) | 1 | | MLH1 | c.293G > A (p.Gly98Asp) | 1 | | MLH1 | c.655A > G (p.Ile219Val) | 1 | | MSH2 | c.211 + 9C > G (p.?) | 1 | | MSH2 | c.1847C > G (p.Pro616Arg) | 1 | | MSH2 | c.2647del (p.Ile883Leufs∗9) | 1 | | MSH6 | c.116G > A (p.Gly39Glu) | 1 | | MSH6 | c.2633T > C (p.Val878Ala) | 1 | | PMS2 | c.2466T > C (p.Leu822Leu) | 1 | | PMS2 | c.2007−4G > A (p.?) | 3 | | PMS2 | c.1621A > G (p.Lys541Glu) | 4 | | PMS2 | c.1408C > T (p.Pro470Ser) | 3 | | PMS2 | c.780C > G (p.Ser260Ser) | 4 | | RET | c.1826G > A (p.Cys609Tyr) | 1 | | RET | c.1900T > C (p.Cys634Arg) | 1 | | RET | c.2307G > T (p.Leu769Leu) | 5 | | RET | c.2372A > T (p.Tyr791Phe) | 1 |
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