The guidelines for clinical practice for carriers of germline mutations in hereditary breast, ovarian, prostate, and pancreatic cancer predisposition genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 (4.2024)

Klin Onkol. 2024;38(4):292-299. doi: 10.48095/ccko2024292.

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. Purkyně Czech Medical Society (SLG ČLS 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.

Keywords: ATM; BRCA1; BRCA2; CHEK2; PALB2; consensus; germline mutation carriers; guidelines for clinical practice.

MeSH terms

  • Ataxia Telangiectasia Mutated Proteins* / genetics
  • BRCA1 Protein / genetics
  • BRCA2 Protein* / genetics
  • Breast Neoplasms / genetics
  • Checkpoint Kinase 2* / genetics
  • Czech Republic
  • Fanconi Anemia Complementation Group N Protein* / genetics
  • Female
  • Genetic Predisposition to Disease*
  • Germ-Line Mutation*
  • Humans
  • Male
  • Ovarian Neoplasms / genetics
  • Pancreatic Neoplasms / genetics
  • Practice Guidelines as Topic
  • Prostatic Neoplasms / genetics

Substances

  • Ataxia Telangiectasia Mutated Proteins
  • ATM protein, human
  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein
  • BRCA2 protein, human
  • Checkpoint Kinase 2
  • CHEK2 protein, human
  • Fanconi Anemia Complementation Group N Protein
  • PALB2 protein, human