Heredity

Hereditary cancers represent a group of malignant tumours in which development and progression are strongly influenced by hereditary factors. Unlike sporadic forms of cancers, which occur more frequently in the general population, hereditary cancers tend to occur repeatedly in certain families; moreover, hereditary cancers often develop in younger age groups than sporadic cancers. On top of that, individuals with confirmed genetic predisposition are at risk of developing not only one, but multiple types of cancer, with varying degrees of risk for individual types. Hereditary cancers, with their prevalence of less than 5 cases per 10,000 population, meet the criteria defined by the European Union Committee of Experts on Rare Diseases.

Among gynaecological malignancies, particular attention is paid to breast cancer, ovarian cancer and endometrial cancer when hereditary cancer predisposition syndromes are considered. These malignant tumours occur in patients with hereditary breast and ovarian cancer syndrome (HBOC) and with hereditary non-polyposis colorectal cancer (HNPCC, or Lynch syndrome). Cervical cancer can also occur in patients with HBOC. Likewise, certain mesenchymal tumours of the uterus (or even breast cancer) can occur in patients with Li–Fraumeni syndrome; and breast cancer can occur in patients with Cowden syndrome or Peutz–Jeghers syndrome.

Treatment of hereditary cancer syndromes requires a specific and comprehensive approach both in terms of diagnosis and therapy. The awareness of genetic predisposition makes it possible to modify the comprehensive care of these patients in a correct manner, for example by choosing an adequate extent of surgical procedures in breast cancer patients with proven mutations in BRCA genes, or by determining an optimal regimen of follow-up care after a successful therapy, with respect to a specific type of genetic burden. Together with an ever better understanding of molecular aetiopathogenesis of malignant tumours, new (and mostly expensive) biological therapies are successively introduced into clinical practice, aiming to influence key molecular structures which would eventually lead to slowing down or even stopping cancer development. Some of these therapies are directly targeted at changes related to mutations typical of hereditary cancer syndromes. It is also a well-known fact that genetic changes linked to some hereditary cancer syndromes lead to an altered sensitivity to standard chemotherapeutic treatments (when compared to cancers without those genetic changes). Due to a low incidence of hereditary cancer syndromes in the population, however, there is a critical lack of data on this issue, and any structured pieces of knowledge might contribute to enhancing the safety and effectiveness of healthcare.

Development and running of a nationwide registry of patients with hereditary forms of gynaecological malignancies made it possible to further improve healthcare provided to this group of women. Key importance of the existence of clinical registries had been repeatedly proven in many other areas of healthcare, including oncology. These registries are not only used for monitoring and for evaluating epidemiological data (including the possibility of comparison to other countries), but also for the optimisation of healthcare planning, as well as monitoring healthcare quality and effectiveness. The existence of such a registry naturally prompts healthcare providers to structure the care in a correct manner, and data from the registry might lead to further improvements in planning and predicting required healthcare, including financial costs and health technology needs. Since care provided to patients with hereditary gynaecological malignancies is inevitably multidisciplinary (involving gynaecological oncologist, clinical geneticist, medical oncologist, pathologist, molecular biologist etc.), the existence of a uniform registry contributes to the optimisation of interdisciplinary cooperation, and particularly to a further prospective mutual coordination in the introduction of new diagnostic and therapeutic procedures, including costly health technology.

Project objectives:

• monitoring the overall number of patients with hereditary breast cancer, ovarian cancer, and/or endometrial cancer,
• collection of epidemiological and prognostic data, including data on patients’ therapy,
• providing comparison of nationwide data to other countries’ data,
• preparing the basis for structuring and planning of healthcare, including expected costs,
• pharmacoeconomic aspects of individual treatment modalities,
• providing information on the project to both professional and general public by a dedicated website, distribution of rolling reports to participating centres,
• preparing data for publications and presentations.

Other important information:

• Expert guarantors: Assoc. Prof. Michal Zikán, MD, PhD; Vít Weinberger, MD, PhD; Markéta Bednaříková, MD; Assoc. Prof. Lenka Foretová, MD, PhD; Jiří Presl, MD, PhD; Luboš Minář, MD, PhD; Dagmar Brančíková, MD
• Funding: The project was supported by the Ministry of Health of the Czech Republic within the programme “Development Projects in Health Care”. The first part of the project, which was running in the period 01/2016–12/2016 and was entitled “Development of a registry of patients with hereditary gynaecological cancers, including breast cancer”, is registered with the identifier 58/16/RPZP. The second part of the project, which was running in the period 01/2017–12/2017 and was entitled “Realisation of a registry of patients with hereditary gynaecological cancers, including breast cancer”, is registered with the identifier 47/17/RPZP.
• Partners: nationwide network of healthcare facilities dealing with patients with hereditary gynaecological cancers