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 |