Table 1. MLPA results for each pool in the ICR96 exon CNV validation series.
| Pool 1 | Pool 2 | |
|---|---|---|
| Gene | Number of exon CNVs | |
| ATM | 1 | 1 |
| BRCA1 | 7 | 8 |
| BRCA2 | 5 | 5 |
| CHEK2 | 2 | 3 |
| EPCAM | 0 | 1 |
| EZH2 | 0 | 1 |
| FH | 1 | 0 |
| MLH1 | 1 | 0 |
| MSH2 | 4 | 4 |
| MSH6 | 1 | 1 |
| NF1 | 1 | 0 |
| NSD1 | 3 | 3 |
| PALB2 | 1 | 0 |
| PMS2 | 3 | 2 |
| PTEN | 0 | 1 |
| RAD51C | 0 | 1 |
| RB1 | 1 | 0 |
| SDHB | 1 | 1 |
| TP53 | 1 | 2 |
| WT1 | 0 | 1 |
| Total | 33 | 35 |
| Samples with no exon CNV | ||
|
APC,
ATM,
BAP1,
BARD1,
BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 |
15 | 15 |