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Single-centre, retrospective, prospective observational cohort study, based on the registration of data from users of the Oncology Genetics Outpatient Clinic
The primary objective of this study is to establish a register to collect and update over time the clinical, genetic and socio-demographic data of all patients who will be assessed for a suspected oncological genetic predisposition, in order to acquire information that can be used for conducting specific studies aimed at clarifying the various uncertainties that still characterise these diseases, such as the clinical significance and the genotype-phenotype correlations of many alterations in oncological predisposition genes oncological predisposition genes, the clinical and bio-pathological features predictive of a significant probability of identifying mutations in these genes, the efficacy of surveillance and prevention measures undertaken to reduce the risk oncological risk according to guidelines, the effectiveness of oncological therapies in patients with hereditary tumours in comparison with those with sporadic neoplasms sporadic neoplasms, risk perception, emotional impact and also interpersonal experiences associated with oncological genetic risk assessment.
These are objectives of primary interest to both the patient and public health (given the general frequency of oncological diseases), because the information acquired will make it possible to improve the general clinical management of all cancer patients and their families.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Prospective | During oncology genetic counselling, together with the standard forms usually applied, the information sheet concerning participation in the register will also be sent to users who meet the inclusion criteria. | ||
| Retrospective | For patients who underwent oncological genetic counselling before the start of the registry, retrospective recruitment will be carried out by means of re-contact for the purpose of proposing joining the registry. |
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| Measure | Description | Time Frame |
|---|---|---|
| Register and follow up over time individuals assessed for suspected genetic predisposition to cancer | Register and follow up over time individuals assessed for suspected genetic predisposition to cancer | 15 years |
| Measure | Description | Time Frame |
|---|---|---|
| Possibility of conducting studies targeted at specific objectives | Acquire information that can be used for conducting specific studies aimed at clarifying the various uncertainties that still characterize these cancer diseases due to genetic predisposition | 15 years |
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Inclusion Criteria:
Exclusion Criteria:
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All users attending Oncology Genetics outpatient clinics will be registered. The user population of these outpatient clinics includes all patients assessed for hereditary cancer risk regardless of age, gender, disease status and genetic testing. The register will include both the proband, i.e. the first person in the family to undergo an oncological genetic assessment, and any family members who perform the assessment subsequently.
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| Name | Affiliation | Role |
|---|---|---|
| Daniela Turchetti, MD | IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico di Sant'Orsola | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico di Sant'Orsola | Bologna | Italy | 40138 | Italy |
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