Genetic diagnosis of malignant tumors

Genetic diagnosis of malignant tumors – molecular genetic testing of a panel of oncogenes.

Cancer diseases arise in about 5-10% of cases as a result of hereditary disposition. The aim of genetic testing is to determine whether there is a family history of hereditary cancer predisposition and to recommend appropriate prevention. During the genetic consultation, the patient’s family and personal history is evaluated with the physician and a detailed determination is made as to which cancers have occurred in the patient’s family and at what age.

Recently, there have been great developments in the field of molecular genetic testing for hereditary predisposition to cancer. Since February 2017, ONKO gene panel testing has been included in the routine operation of our laboratory. This examination uses the so-called next-generation sequencing – NGS, which enables the examination of a large number of genes. These are selected important genes with clear clinical significance with subsequent dispensary or surgical care.

In our laboratory, we use the ONKO solution sequencing panel based on the principle of Target Enrichment using exon proximal probes, where 65 genes associated with hereditary predisposition to cancer are sequenced.

Panel ONKO solution: ABRAXAS1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CDKN2B, EPCAM, ERCC2, ERCC3, FANCC, FANCM, FH, FLCN, HOXB13, CHEK2, KIT, MEN1, MET, MLH1, MLH3, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PIK3CA, PMS2/PMS2CL, POLD1, POLE, PRKAR1A, PRSS1, PTEN, PTCH1, RAD50, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, SDHB, SLX4, SMAD4, SMARCB1, SPINK1, STK11, SUFU, TP53, TSC1, TSC2, VHL, WRN, WT1, XRCC2

In the event of finding a suspicious personal or family history of cancer (especially recurrence of tumours or occurrence at an earlier age), the patient can be referred to our department for genetic consultation. A genetic physician will decide whether to refer the patient for laboratory genetic testing with the patient’s written consent.