Clinical trial NCT06800599: Single-institution Register of Individuals Undergoing Cancer Genetic Risk Assessment
Official title: Registro Mono-istituzionale Di Individui Sottoposti a Valutazione Del Rischio Genetico Oncologico
Study type: OBSERVATIONAL
Overall status: ENROLLING_BY_INVITATION
Conditions: Genetic Predisposition to Cancer
Lead sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna
Sponsor class: OTHER
First posted: 2025-01-30
Enrollment: 7000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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

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.

Eligibility criteria: 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

Primary outcomes:
measure: Register and follow up over time individuals assessed for suspected genetic predisposition to cancer
timeFrame: 15 years
Secondary outcomes:
measure: Possibility of conducting studies targeted at specific objectives
timeFrame: 15 years
Other outcomes:
Locations:
city: Bologna
country: Italy
facility: IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico di Sant'Orsola
Study officials:
affiliation: IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico di Sant'Orsola
name: Daniela Turchetti, MD
role: PRINCIPAL_INVESTIGATOR
References: