Table 1.
List of HBOC genes screened in this study.
| Gene | Transcript | Gene | Transcript |
|---|---|---|---|
| BRCA1 | NM_007294.3 | CDH1 | NM_004360.4 |
| BRCA2 | NM_000059.3 | MLH1 | NM_000249.3 |
| PALB2 | NM_024675.3 | MSH2 | NM_000251.2 |
| RAD51C | NM_058216.2 | MSH6 | NM_000179.2 |
| RAD51D | NM_002878.3 | PMS2 * | NM_000535.6 |
| TP53 | NM_000546.5 | EPCAM ** | NM_002354.2 |
| PTEN | NM_000314.6 |
* Due to the high sequence similarity shared with the paralog, the detection of variants and CNVs of exons 12 to 15 of PMS2 was not carried out. ** Only large genomic rearrangements were investigated.