ABSTRACT
The Guidelines for Clinical Practice for carriers of pathogenic variants in clinically relevant cancer predisposition genes define the steps of primary and secondary prevention that should be provided to these individuals at high risk of developing hereditary cancer in the Czech Republic. The drafting of the guidelines was organized by the Oncogenetics Working Group of the Society for Medical Genetics and Genomics of J. E. Purkyne Czech Medical Society (SLG CLS JEP) in cooperation with the representatives of oncology and oncogynecology. The guidelines are based on the current recommendations of the National Comprehensive Cancer Network (NCCN), European Society of Medical Oncology (ESMO) and take into account the capacity of the Czech healthcare system.
Subject(s)
Ataxia Telangiectasia Mutated Proteins , BRCA2 Protein , Checkpoint Kinase 2 , Fanconi Anemia Complementation Group N Protein , Genetic Predisposition to Disease , Germ-Line Mutation , Humans , Checkpoint Kinase 2/genetics , Fanconi Anemia Complementation Group N Protein/genetics , Female , Ataxia Telangiectasia Mutated Proteins/genetics , BRCA2 Protein/genetics , Male , BRCA1 Protein/genetics , Czech Republic , Ovarian Neoplasms/genetics , Prostatic Neoplasms/genetics , Pancreatic Neoplasms/genetics , Breast Neoplasms/geneticsABSTRACT
BACKGROUND: Hereditary cancer syndromes are an important subset of malignant cancers caused by pathogenic variants in one of many known cancer predisposition genes. Diagnosis of cancer predisposition is based on genetic testing using next-generation sequencing. This allows many genes to be analysed at once, increasing the number of variants identified. The correct classification of the variants found is essential for the clinical interpretation of genetic test results. PURPOSE: The aim of this study is to summarise the rules for classifying identified variants within individual laboratories and to present the process for creating a common classification. In the Czech Republic, the sharing of identified genetic variants and the development of their consensus classification among national laboratory diagnostic communities is carried out within the Czech Cancer Panel for Clinical Application (CZECANCA) consortium of scientific and diagnostic oncogenetic laboratories. Consensus for variant classification follows a defined protocol. Sharing the results and consensus classification accelerates and refines the release of genetic test results, harmonises results between laboratories and thus contributes to improving the care of individuals at high risk of cancer and their relatives.