Terminated registry of patients with hereditary gynaecological cancers, including breast cancer.
start of the project: January 2016
end of the project: December 2017
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.
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