Single-institution Register of Individuals Undergoing Cancer Genetic Risk Assessment

Registro Mono-istituzionale Di Individui Sottoposti a Valutazione Del Rischio Genetico Oncologico

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

Study Overview

• Status: Enrolling by invitation
• Conditions: Genetic Predisposition to Cancer

Detailed 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.

• Study Type: Observational
• Enrollment (Estimated): 7000

Contacts and Locations

Study Locations

• Italy
  • Bologna, Italy, 40138
    • IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico di Sant'Orsola

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Secondary Outcome Measures

Outcome Measure	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

Collaborators and Investigators

• Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna
• Investigators: Principal Investigator: Daniela Turchetti, MD, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico di Sant'Orsola

Study record dates

Study Major Dates

• Study Start (Actual): May 1, 2022
• Primary Completion (Estimated): December 31, 2037
• Study Completion (Estimated): December 31, 2037

Study Registration Dates

• First Submitted: November 28, 2024
• First Submitted That Met QC Criteria: January 28, 2025
• First Posted (Actual): March 25, 2025

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: January 28, 2025
• Last Verified: October 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Disease Susceptibility; Genetic Predisposition to Disease
• Other Study ID Numbers: REGIO

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No