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Tumeurs rares et prédisposition au cancer chez les individus et les familles

2 novembre 2026 mis à jour par: National Cancer Institute (NCI)

Background:

Some people may be prone to develop cancer for many reasons. Factors that affect their risk include the genes they inherit and the environment they live and work in. Researchers want to learn more about the natural history of cancer.

Objective:

To understand how genes and environmental factors can cause tumors and related conditions.

Eligibility:

People of any age who:

Have tumors of an unusual type, pattern, or number

Have a family member with a history of cancer

Have been exposed to other factors that may increase their risk of cancer

Design:

This study does not involve treatment.

Participants will answer questions about their personal and family medical history. They will give permission for researchers to see their medical records.

Participants may be invited to the NIH Clinical Center for a physical exam. They may give samples including saliva, cheek cells, blood, urine, skin, and/or hair.

Participants with cancer may give bone marrow. A needle will be used to remove a small sample of bone marrow from their hip bone.

Participants may have a biopsy of their tumor.

Participants may have other exams:

Dental

Ear, nose, and throat

Eye

Hearing

Heart function and structure

Participants with cancer may undergo more exams:

A test of how much energy their body uses when resting

A sleep study with a test that measures brain electrical activity. They will have sensors attached to their body while they sleep overnight in a lab.

Imaging scans, such as CT, MRI, a test to measure how dense their bones are (DEXA), and ultrasound.

Participants will have their genes tested. A counsellor will help them understand the results.

Participants will be followed until at least 2035.

Aperçu de l'étude

Description détaillée

Study Description: The overall purpose of this study is to comprehensively and longitudinally evaluate the natural history of participants with rare tumors, genetic syndromes, genetic variants, and/or family history consistent with or hypothesized to contribute to predisposition to cancer(s) of interest to DCEG investigators. It will also facilitate evaluation of patients who may be candidates for other NIH Clinical Center (CC) clinical trials. These individuals and families will be evaluated and followed longitudinally to define the clinical spectrum (e.g., disease course, cancer risks, response to therapies, survival) and other phenotypic manifestations associated with rare tumors, genetic variants, and cancer predisposition syndromes.

Objectives:

  1. To evaluate and define the clinical spectrum (phenotype), penetrance and natural history of disease in syndromes predisposing to cancer;
  2. To evaluate the phenotypes and natural history arising from known -or suspected- pathogenic germline variants in known -or suspected cancer-susceptibility genes;
  3. To evaluate potential neoplastic precursor conditions in individuals and families at risk of cancer;
  4. To quantify site-specific risks of such tumors in family members;
  5. To discover, map, and determine inheritance patterns and functions of cancer susceptibility genes;
  6. To identify etiologically or clinically relevant changes to the somatic genome in these patients;
  7. To educate and counsel study participants about cancer risk including quantitative risk assessment and communication; prevention and surveillance recommendations; early detection activities; and management recommendations, when known.
  8. To facilitate and enhance enrollment in interventional clinical trials within the NCI or other Institutes.

Endpoints:

Primary Endpoint: The general goals of the research conducted under this protocol are to:

  1. Discover germline cancer susceptibility genes
  2. Define the natural history and clinical spectrum of disease in high risk cancer susceptibility families
  3. Define potential precursor states
  4. Quantify risks of cancers in family members
  5. Identify differences between familial and sporadic neoplasia
  6. Identify genetic determinants, environmental risk factors, gene-environment, and gene-gene interactions in high risk families
  7. Characterize the somatic genome of tumors from participants.

Secondary Endpoints:

  1. Define penetrance of tumors in family members
  2. Create full protocols for specific tumors or syndromes based on the pilot studies conducing within this study

Type d'étude

Observationnel

Inscription (Estimé)

500

Contacts et emplacements

Cette section fournit les coordonnées de ceux qui mènent l'étude et des informations sur le lieu où cette étude est menée.

Coordonnées de l'étude

Sauvegarde des contacts de l'étude

Lieux d'étude

    • Maryland
      • Bethesda, Maryland, États-Unis, 20892
        • Recrutement
        • National Institutes of Health Clinical Center
      • Rockville, Maryland, États-Unis, 20850
        • Recrutement
        • NIH National Cancer Institute - Shady Grove

Critères de participation

Les chercheurs recherchent des personnes qui correspondent à une certaine description, appelée critères d'éligibilité. Certains exemples de ces critères sont l'état de santé général d'une personne ou des traitements antérieurs.

Critère d'éligibilité

Âges éligibles pour étudier

1 an à 99 ans (Enfant, Adulte, Adulte plus âgé)

Accepte les volontaires sains

Oui

Sexes éligibles pour l'étude

Tout

Méthode d'échantillonnage

Échantillon non probabiliste

Population étudiée

primary clinical; volunteers come from all across the U.S.

La description

  • INCLUSION CRITERIA:

Although specific familial syndromes vary in prevalence by sex, race or ethnicity, no one is excluded from participation by sex, gender, race or ethnicity. Since families participate in studies, the sex distribution is essentially balanced, and all ages are included. Minor children below the age of assent are actively studied only when the benefits of participation outweigh the risks.

Affected: An individual who meets any of the following criteria will be eligible to participate in this study:

  1. Personal medical history of neoplasia of an unusual type, pattern, or number; or,

  2. Known or suspected factor(s) predisposing to neoplasia, either genetic and/or congenital factors (birth defects, metabolic phenotype, chromosomal anomalies or Mendelian traits associated with tumors), environmental exposure (medications, occupation, radiation,

    diet, infectious agents, etc.), or unusual demographic features (very young age of onset, multiple tumors, etc.).

  3. There is no age restriction; therefore including viable neonates However, children < 3 years old will not come to the Clinical Center unless clinically indicated until they are >= 3 years old.

  4. Participant or their Legally Authorized Representative (LAR) must sign and date an IRB approved informed consent form (signed on paper or electronically for the Field Cohort / signed on paper for the Clinic Center Cohort)

Unaffected Controls: An individual who meets any of the following criteria will be eligible to participate in this study:

  1. Family medical history of neoplasia of an unusual type, pattern, or number; or,

  2. Known or suspected factor(s) predisposing to neoplasia, either genetic and/or congenital factors (birth defects, metabolic phenotype, chromosomal anomalies or Mendelian traits associated with tumors), environmental exposure (medications, occupation, radiation,

    diet, infectious agents, etc.), or unusual demographic features (very young age of onset, multiple tumors, etc.).

  3. There is no age restriction; therefore including viable neonates. However, children < 3 years old will not come to the Clinical Center unless clinically indicated until they are >= 3 years old.

  4. Participant or their LAR must sign and date an IRB-approved informed consent form (signed on paper or electronically for the Field Cohort / signed on paper for the Clinic Center Cohort)

Personal and family medical history will be verified through questionnaires, interviews, and review of pathology slides and medical records. For familial neoplasms, two or more living affected cases among family members are required. The types of suspected factors predisposing to neoplasia and/or familial tumors under active accrual and study will be investigator- and hypothesis-driven. This approach permits CGB investigators to remain alert to the opportunities afforded by clusters of rare tumors in families and individuals, and to be more responsive to the dynamic research priorities in cancer genetics.

EXCLUSION CRITERIA:

Affected: An individual who meets any of the following criteria will be excluded from participation in this study:

  1. Referred individuals for whom reported diagnoses cannot be verified
  2. Inability of the participant or LAR to understand and be willing to sign a written informed consent document.
  3. Referred individuals who are eligible for other CGB protocols that are specific to a hereditary cancer syndrome (e.g., Li-Fraumeni Syndrome, Familial Melanoma) Unaffected Controls: An individual who meets any of the following criteria will be excluded

from participation in this study:

  1. Referred families for whom reported diagnoses cannot be verified
  2. Inability of the participant or LAR to understand and be willing to sign a written informed consent document.
  3. Referred families who are eligible for other CGB protocols that are specific to a hereditary cancer syndrome (e.g., Li-Fraumeni Syndrome, Familial Melanoma)

Plan d'étude

Cette section fournit des détails sur le plan d'étude, y compris la façon dont l'étude est conçue et ce que l'étude mesure.

Comment l'étude est-elle conçue ?

Détails de conception

  • Modèles d'observation: FAMILY_BASED
  • Perspectives temporelles: OTHER

Cohortes et interventions

Groupe / Cohorte
Clinical Center Cohort

includes Proband, Other carriers in family, Family Controls

Field Cohort

includes Proband, Other carriers in family, Family Controls

Que mesure l'étude ?

Principaux critères de jugement

Mesure des résultats
Description de la mesure
Délai
Defining the natural history of familial cancers and susceptibility states over multiple generations, identifying cancer susceptibility genes, and assessing gene-environment and gene-gene interactions
Délai: Ongoing

New cancer development or current health status

Ongoing

Collaborateurs et enquêteurs

C'est ici que vous trouverez les personnes et les organisations impliquées dans cette étude.

Les enquêteurs

  • Chercheur principal: Sharon A Savage, M.D., National Cancer Institute (NCI)

Publications et liens utiles

La personne responsable de la saisie des informations sur l'étude fournit volontairement ces publications. Il peut s'agir de tout ce qui concerne l'étude.

Dates d'enregistrement des études

Ces dates suivent la progression des dossiers d'étude et des soumissions de résultats sommaires à ClinicalTrials.gov. Les dossiers d'étude et les résultats rapportés sont examinés par la Bibliothèque nationale de médecine (NLM) pour s'assurer qu'ils répondent à des normes de contrôle de qualité spécifiques avant d'être publiés sur le site Web public.

Dates principales de l'étude

Début de l'étude (Réel)

10 mars 2023

Achèvement primaire (Estimé)

31 décembre 2035

Achèvement de l'étude (Estimé)

31 décembre 2035

Dates d'inscription aux études

Première soumission

26 avril 2022

Première soumission répondant aux critères de contrôle qualité

27 avril 2022

Première publication (Réel)

28 avril 2022

Mises à jour des dossiers d'étude

Dernière mise à jour publiée (Réel)

3 novembre 2026

Dernière mise à jour soumise répondant aux critères de contrôle qualité

2 novembre 2026

Dernière vérification

27 octobre 2026

Plus d'information

Termes liés à cette étude

Termes MeSH pertinents supplémentaires

Autres numéros d'identification d'étude

  • 10000678
  • 000678-C

Plan pour les données individuelles des participants (IPD)

Prévoyez-vous de partager les données individuelles des participants (DPI) ?

OUI

Description du régime IPD

Genotype and sequence data along with clinical phenotypes will be deposited in a genomic database in accordance with current NIH Genomic Data Sharing (GDS) Policy and the NIH Human Data Sharing Policy.@@@@@@@@@@@@The following human data generated in this research will be shared for future research as follows:@@@@@@@@@@@@De-identified data in an NIH-funded or approved public repository.@@@@@@@@@@@@De-identified data in BTRIS (automatic for activities in the Clinical Center)@@@@@@@@@@@@De-identified or identified data with approved outside collaborators under appropriate agreements.@@@@@@@@@@@@The data will be shared at the time of publication or shortly after.@@@@@@@@@@@@Unlinked genomic data will be deposited in public genomic databases such as dbGaP in compliance with the NIH Genomic Data Sharing Policy.

Délai de partage IPD

The data will be shared at the time of publication or shortly after.

Critères d'accès au partage IPD

Section 9.10 titled Publication and Data Sharing Policy in the protocol which describes the plan for data sharing plans including human data sharing and genomic data sharing.

Type d'informations de prise en charge du partage d'IPD

  • SÈVE
  • CIF

Informations sur les médicaments et les dispositifs, documents d'étude

Étudie un produit pharmaceutique réglementé par la FDA américaine

Non

Étudie un produit d'appareil réglementé par la FDA américaine

Non

Ces informations ont été extraites directement du site Web clinicaltrials.gov sans aucune modification. Si vous avez des demandes de modification, de suppression ou de mise à jour des détails de votre étude, veuillez contacter register@clinicaltrials.gov. Dès qu'un changement est mis en œuvre sur clinicaltrials.gov, il sera également mis à jour automatiquement sur notre site Web .

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