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Examination of congenital predispositions to cancer

Examination of congenital predispositions to cancer is performed by a genetic test called CZECANCA (Czech Cancer Panel for Clinical Analysis). This genetic test was developed by a group under doc. MUDr. Kleibl from the 1st Medical Faculty of Charles University and investigates congenital changes of 219 genes associated with cancer. The evaluation of test results mainly focuses on 44 genes that are demonstrably associated with hereditary cancers, such as hereditary breast and ovarian tumours, gastrointestinal tumours, but also a number of other organs (e.g. genes BRCA1, BRCA2, CHEK2, TP53, PALB2, ATM, MLH1, MSH2, MSH6, EPCAM, MUTY H). Congenital changes in other genes in the panel are investigated in the study to find the irregularities in the genetic predisposition of the Czech population to cancer.

CZECANCA uses the next-generation sequencing method (NGS) to examine variants of a number of genes that may be the cause of cancer in one laboratory test.

Indication criteria for the examination of congenital predispositions to cancer:

diagnosis of cancer usually at a young age

  • in people with various types of cancer
  • in the presence of bilateral tumours in paired organs
  • recurrence of the same type of cancer (e.g. breast cancer or colorectal cancer) in the family
  • the combination of certain types of tumours in close relatives (breast and ovarian cancer, colon and uterine cancer), especially in cases with cancer at a young age.

The aim of the examination is to identify patients/families with an innate predisposition to certain types of tumours. The results of the examination are ALWAYS communicated to the patient/family during a genetic consultation. At the same time, a report is provided with the oncological risk and suggested preventive measures.

  • inclusion in special follow-up programmes from a young age to allow for early diagnosis of possible cancer
  • preventive procedures to reduce the risk of disease development
  • the treatment of the tumours themselves may need to be adjusted for some types of predispositions
  • specification of oncological risk for healthy family members