Najrelevantniji geni za nasljedne karcinome
| Gene | Karcinom dojke | Karcinom ovarija | Karcinom materice | Karcinom debelog crijeva | Melanom | Karcinom pankreasa | Karcinom želuca | Karcinom prostate* |
|---|---|---|---|---|---|---|---|---|
| * CDK4: analysis is limited to chr12:g.58145429-58145431 (codon 24). EPCAM: analysis is limited to deletions that minimally encompass the 3’ end of the gene including exons 8 and/or 9. GREM1: analysis is limited to duplications that overlap the upstream regulatory region. MITF: analysis is limited to chr3:g.70014091 (including c.952G>A). PMS2: variants of uncertain significance are not reported for exons 12-15. Analysis excludes three variants commonly observed in the pseudogene PMS2CL: c.2182_2184delinsG, c.2243_2246delAGAA and deletion of exons 13-14 (chr7:g.6015768_6018727del). POLD1: analysis is limited to chr19:g.50909713 (including c.1433G>A). POLE: analysis is limited to chr12:g.133250250 (including c.1270C>G). | ||||||||
| BRCA1 |  |  |  |  | ||||
| BRCA2 | | |  | | | |||
| MLH1 | |  |  | |  | | ||
| MSH2 | | | | | | | ||
| MSH6 | | | | | | |||
| PMS2* | | | | | ||||
| EPCAM* | | | | | | | ||
| APC | | | | |||||
| MUTYH | | |||||||
| MITF* | | |||||||
| BAP1 | | |||||||
| CDKN2A | | | ||||||
| CDK4* | | |||||||
| TP53 | | | | | | | | |
| PTEN | | | | | ||||
| STK11 | | | | | | | ||
| CDH1 | | | ||||||
| BMPR1A | | | | |||||
| SMAD4 | | | | |||||
| GREM1* | | |||||||
| POLD1* | | |||||||
| POLE* | | |||||||
| PALB2 | | | | |||||
| CHEK2 | | | | |||||
| ATM | | | | |||||
| BARD1 | | |||||||
| BRIP1 | | | ||||||
| RAD51C | | |||||||
| RAD51D | | |||||||
