Clinical Genetics Branch Eligibility Screening Survey

NCT07005297 | Not Yet Recruiting

• 2 other identifiers: 10002365002365-C
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

Background: Clinical Genetics Branch (CGB) researchers study individuals and populations at high genetic risk of cancer in order to improve our understanding of cancer and to improve cancer care. There are currently 6 open clinical genetics studies at the CGB eligible for this screening process.

• 02C0052: Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study (Cancer in Bone Marrow Failure)
• 11C0255: Clinical, Epidemiologic, and Genetic Studies of Li-Fraumeni Syndrome (Li Fraumeni Syndrome Study)
• 11C0034: DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study (Pleuropulmonary Blastoma)
• 02C0211: Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma (Melanoma-Prone Families)
• 10CN188: Genetic Clues to Chordoma Etiology: A Protocol to Identify Sporadic Chordoma Patients for Studies of Cancer-susceptibility Genes (Sporadic Chordoma Study) The following studies have their own study-specific screeners. If you are interested in these studies, please click the links below to fill out the relevant study screener:
• 001109: Defining the Natural History of Squamous Cell Carcinoma in Fanconi anemia (SCC Screening in FA): https://service.cancer.gov/fanconi
• 20C0107: Clinical, Genetic, and Epidemiologic Study of Children and Adults with RASopathies (RASopathies Study): https://service.cancer.gov/myras Objective: To find people to participate in active CGB cancer research studies. Eligibility: People of any age who meet the eligibility criteria for one of the open CGB cancer research studies. You can learn more about the CGB cancer research studies by clicking on the links to the study-specific websites above. This typically involves a personal or family history of certain cancers that are being studied by researchers at CGB. Design: Participants will fill out a screening questionnaire to determine if they are eligible to participate in one or more CGB clinical genetics studies. The survey asks about personal health history, including cancer; family history; and genetic testing results and takes 15 to 20 minutes. Each study has its own eligibility criteria. Survey respondents will select which study (or studies) that are interested in participating in, and the relevant study team(s) will review the screener to determine eligibility to participate in the study. Participants who are determined to be eligible for a study based on their screener will be contacted by the respective study team to learn more about the study and to consent to enroll in the study if they choose to do so. Participants who consent to enroll in a study may be asked to provide medical records; samples such as blood, saliva, or other tissues; and to participate in activities such as phone interviews or surveys. They may be invited for evaluations at the clinical center. Every study activity is voluntary. None of the studies provide treatments. Participants may be contacted to consider enrolling in future studies.

Conditions

CFC Syndrome (CFCS); Legius Syndrome; RASopathies; Fanconi Anemia; Melanoma; Chordoma; Li-Fraumeni Syndrome; Pulmonary Blastoma; Costello Syndrome; Congenital Bone Marrow Failure Syndromes

Keywords

Fanconi Anemia; Li-Fraumeni Syndrome; Clinical Genetics Branch, NCI; Hereditary Melanoma; Chordoma; DICER-1 syndrome; RASopathies; Cancer; Inherited Bone Marrow Failure Syndromes

Outcome Measures

Primary Outcomes (1)

• Number of Eligible Participants Identified

  The total count of individuals who qualify for a CGB study

  Duration of the protocol

Study Arms (1)

Prospective Cohort

Prospective Cohort

Eligibility Criteria

• Age: 1 Year - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

People of any age who meet the eligibility criteria for one of the open CGB cancer research studies. This typically involves a personal or family history of certain cancers that are being studied by researchers at CGB.

You may qualify if:

• There is no age restriction; therefore, viable neonates may be included. This eligibility screening protocol is intended for individuals meeting one or more of the following criteria:
• Personal or family history of a diagnosis of a syndrome being actively investigated in one of the following CGB study protocol:
• Protocol 000678: Medical history of neoplasia of an unusual type, pattern, or number.
• Protocol 11C0255: A personal history of adrenal cortical carcinoma or choroid plexus carcinoma at any age, regardless of family history, or family or personal medical history of neoplasia consistent with the diagnosis of LFS or LFL.
• Protocol 20C0107: Individuals with a clinical diagnosis of a RASopathy, including Costello syndrome, Noonan syndrome, Noonan syndrome with multiple lentigines, Cardiofaciocutaneous syndrome, Legius syndrome, capillary arteriovenous malformation syndrome, or others, are eligible. Published clinical diagnostic criteria exist for most of the clinical RASopathy syndromes and differ by syndrome. It will be uncommon for individuals to have a clinical diagnosis and not have had molecular genetic testing. All individuals considered by the study team to be at risk for a RASopathy who have not had prior genetic testing will have this completed as part of the study. The rare individuals with a clinical diagnosis of a RASopathy who are not found to carry a corresponding pathogenic or likely pathogenic variant in a known RASopathy gene will be considered for exome analysis for identification of potentially novel RASopathy germline variation.
• Protocol 11C0034: An individual with histologically-confirmed PPB and/or other DICER1-related tumors
• Protocol 02C0052: The participants will be affected by an IBMFS, or be members of a family with an IBMFS, and be at risk of being affected or carriers of the syndrome. Except for the rare X-linked recessive disorder (e.g. some dyskeratosis congenita patients), there should be equal numbers of male and female probands and family members. These IBMFS have been reported in most racial and ethnic groups, and thus all such groups will be included. The age range will be from birth to old age (grandparents of probands). The majority of the probands will be children (10-20% will be adults), and their parents and grandparents will be adults. All racial/ethnic groups are eligible.
• Protocol 02C0211: Personal medical history of melanoma of an unusual type, pattern, or number diagnosed at any age.
• Protocol 78C0039: Family or personal medical history of neoplasia of an unusual type, pattern, or number
• Personal or family history of medical condition, malignancy, and/or benign neoplasm suggestive of hereditary cancer predisposition being actively investigated in the following CGB study protocol:
• Protocol 000678: 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.)
• Protocol 11C0255: An individual with a sarcoma diagnosed under the age of 45; AND - At least one first-degree relative (parents, brothers, sisters and children) with a cancer of any kind diagnosed under the age of 45; AND - A third family member who is either a first- or second-degree relative (such as grandparents, aunts, uncles, nieces, nephews, and grandchildren) with cancer diagnosed under the age of 45 or having a sarcoma at any age.
• Protocol 001109: On referral, persons \>= 12 years with Fanconi Anemia (FA) primarily from North America will be included. An individual with FA who is 8 -11 years can also be included if they have a history of persistent oral potentially malignant lesion (OPMLs), dysphagia, or other concerning symptoms. Individuals with prior cancer diagnosis are eligible.
• Protocol 11C0034: An individual from the general population with one or more of the unique tumors of the types associated with DICER1 including (but not exclusively), PPB, cystic nephroma, ovarian Sertoli-Leydig cell and other sex cordstromal tumors, ocular medulloepithelioma, nasal chondromesenchymal hamartoma, Wilms tumor, embryonal rhabdomyosarcoma, pineoblastoma, pituitary blastoma, ovarian sarcoma, CNS sarcoma and/or thyroid cancer - regardless of their family history. Additional DICER1-related neoplasms may be identified in the future, and they will be added to the protocol as needed
• Protocol 02C0211: Known or suspected factor(s) predisposing to melanoma, either genetic or congenital factors (giant congenital nevi, dysplastic nevi, Spitzoid tumors), or unusual demographic features (e.g., very young age of onset, multiple melanomas, previous history of heritable retinoblastoma, Hodgkin's disease, lymphoma, immunodeficiency syndrome, or organ transplant).

Sponsors & Collaborators

• National Cancer Institute (NCI): lead

Study Sites (1)

National Cancer Institute

Rockville, Maryland, 20850, United States

Location

MeSH Terms

Conditions

Melanoma; Li-Fraumeni Syndrome; Pulmonary Blastoma; Chordoma; Congenital Bone Marrow Failure Syndromes; Costello Syndrome; Fanconi Anemia; Cardiofaciocutaneous syndrome; Legius syndrome; Melanoma, Cutaneous Malignant; Neoplasms

Condition Hierarchy (Ancestors)

Neuroendocrine Tumors; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms, Nerve Tissue; Nevi and Melanomas; Skin Neoplasms; Neoplasms by Site; Skin Diseases; Skin and Connective Tissue Diseases; Neoplastic Syndromes, Hereditary; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Neoplasms, Complex and Mixed; Lung Neoplasms; Respiratory Tract Neoplasms; Thoracic Neoplasms; Bone Marrow Failure Disorders; Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases; Infant, Newborn, Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Abnormalities, Multiple; Congenital Abnormalities; Anemia, Hypoplastic, Congenital; Anemia, Aplastic; Anemia

Study Officials

• Sharon A Savage, M.D.

  National Cancer Institute (NCI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Sharon A Savage, M.D.

CONTACT

(240) 276-7241; savagesh@mail.nih.gov

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 4, 2025
• First Posted: June 5, 2025
• Study Start (Estimated): May 11, 2026
• Primary Completion (Estimated): January 1, 2035
• Study Completion (Estimated): January 1, 2036
• Last Updated: May 6, 2026

Record last verified: 2025-09-19

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)