Single-institution Register of Individuals Undergoing Cancer Genetic Risk Assessment

Scientific Institute for Research Hospitalization and Healthcare (IRCCS)

Status: Invitation-only

Conditions: Genetic Predisposition to Cancer

Study type: Observational

Funder types: Other

Identifiers

NCT06800599

REGIO

Details and patient eligibility

About

Single-centre, retrospective, prospective observational cohort study, based on the registration of data from users of the Oncology Genetics Outpatient Clinic

Full description

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.

Enrollment: 7,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• participants aged 0 days or older at the time of genetic counselling
• obtaining a signed informed consent

Exclusion criteria

• misdiagnosis of oncological counselling during oncological genetic counselling

Trial design

7,000 participants in 2 patient groups

Prospective

Description:

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

Description:

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.