Research Article
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing
Table 3
CNV positive specimens included in validation study.
| | Specimen name | Gene | CNV variant | No. replication |
| | S1 | CDH1 | Exon 4–9 deletion | 3 | | S2 | BRCA2 | Whole gene duplication | 3 | | S3 | BRCA1 | Whole gene deletion | 3 | | S4 | TP53 | Whole gene deletion | 3 | | S5 | BRCA1 | Exon 16–17 deletion | 3 | | S6 | BRCA1 | Exon 1–2 duplication | 3 | | S7 | BRCA1 | Exon 9–12 deletion | 3 | | S8 | BRCA1 | Exon 21–23 deletion | 5 | | S9 | BRCA1 | Exon 13 duplication | 3 | | S10 | BRCA1 | exon 9–12 deletion | 5 | | S11 | MLH1 | Exon 16–19 deletion | 1 | | S12 | PMS2 | Whole gene deletion∗ | 1 | | S13 | MLH1 | Exon 16–19 deletion | 1 | | S14 | PMS2 | Exon 8 deletion | 1 | | S15 | CDH1 | Whole gene duplication | 1 | | S16 | BRCA1 | Exon 1–22 duplication | 1 | | S17 | PALB2 | Exon 9–10 deletion | 1 | | S18 | BRCA1 | Exon 22 deletion | 1 |
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∗S12 PMS2 exon 11–15 CNV status was not tested by NGS.
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