Genetic diagnosis of malignant tumors

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

Oncological diseases occur in about 5 to 10% on the basis of genetic predisposition. The aim of genetic testing is to determine whether or not a family has a hereditary cancer predisposition and recommend appropriate prevention. During genetic consultation a physician evaluates family and personal history of the patient to consult in detail the type of oncological diseases and at what age they occurred in the family of the patient.

Recently there has been significant development in the field of molecular genetic examination of hereditary predisposition to oncological diseases. Since February 2017, the routine operation of our laboratory has included testing of a panel of oncology-related genes. This examination uses the so-called “Next Generation Sequencing – NGS” that enables the testing of a large number of genes associated with oncological disease. This examination applies to selected genes with clear clinical relevance and to the follow-up medical or surgical care according to the procedure recommended by the Society of Medical Genetics and Genomics of the Czech Medical Society of J. E. Purkyne.

In our laboratory, the examination is performed using the “Hereditary Cancer Solution” kit by Sophia Genetics (Switzerland) which covers the coding and exon-flanking regions of 27 genes associated to most common hereditary cancer syndromes.

ONCO panel:  BRCA1, BRCA2, CHEK2(el-11), TP53, PALB2, ATM, RAD51C, BRIP1, NBN, CDH1, PTEN, STK11 (predisposition of hereditary breast, ovarian, prostate and stomach cancers), MLH1, MSH2, MSH6, EPCAM, MUTYH, APC (predisposition of colon and corpus uteri cancers), BARD1, FAM175A, RAD50, RAD51D, PMS2/PMS2CL

In the case of finding a suspicious personal or family history of cancer (especially cancer recurrence or occurrence at an earlier age) of the patient, the patient can be sent for genetic consultation to our centre. A possible indication for laboratory genetic testing is decided by a physician – geneticist with the written consent of the patient.