Clinical Genetics Branch (CGB) Eligibility Screening Survey

Plain English Summary

Clinical Genetics Branch Eligibility Screening Survey is a Not Applicable clinical trial sponsored by National Cancer Institute (NCI) studying Melanoma, Li-Fraumeni Syndrome, Pulmonary Blastoma, Chordoma, Congenital Bone Marrow Failure Syndromes, Costello Syndrome, Fanconi Anemia, CFC Syndrome (CFCS), Legius Syndrome, RASopathies. This study acts as a preliminary screening to identify individuals who may be eligible for various cancer genetics research studies. It is designed for individuals with a personal or family history of certain cancers or genetic syndromes linked to cancer. Participation involves completing a screening questionnaire to determine eligibility for other CGB research studies. Alternative options include directly applying to specific CGB studies if you know which one you are interested in. The trial aims to enroll 1000 participants.

Official 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

Who Can Participate

Here is what you need to know about eligibility for this trial. Anyone, including newborns, can be screened if they have a personal or family history of specific cancers or genetic syndromes being studied. Individuals with a personal history of certain rare cancers or specific genetic syndromes like Li-Fraumeni Syndrome, RASopathies, or bone marrow failure syndromes are eligible. Those with a family history of these conditions or a personal history of unusual cancer types, patterns, or early-onset cancers may also qualify. There are no age restrictions for this initial screening. This trial is studying Melanoma, Li-Fraumeni Syndrome, Pulmonary Blastoma, Chordoma, Congenital Bone Marrow Failure Syndromes, Costello Syndrome, Fanconi Anemia, CFC Syndrome (CFCS), Legius Syndrome, RASopathies, so participants generally need a confirmed diagnosis.

What They're Measuring

The primary outcome measures the number of people found to be eligible for other research studies, meaning the screening process is effective in identifying potential participants for further cancer r The specific primary outcome measures are: Number of Eligible Participants Identified (Duration of the protocol). These endpoints are how researchers determine whether the treatment is effective and will form the basis of any future regulatory submissions.

About This Phase

This study does not have a traditional clinical phase designation. It may be an observational study that follows patients without intervening in their care, an expanded access or compassionate use program, or other non-interventional research. These studies contribute valuable data about disease progression, treatment patterns, and patient outcomes.

Why This Trial Matters

This trial is important because it aims to find individuals who can contribute to a better understanding of cancer genetics, potentially leading to improved cancer prevention and treatment strategies. This research targets Melanoma, Li-Fraumeni Syndrome, Pulmonary Blastoma, Chordoma, Congenital Bone Marrow Failure Syndromes, Costello Syndrome, Fanconi Anemia, CFC Syndrome (CFCS), Legius Syndrome, RASopathies, where improved treatment options are needed.

Investor Insight

This screening survey signals a strong ongoing commitment by the NCI to cancer genetics research, suggesting a significant market for understanding and treating hereditary cancers and a high probabili The large enrollment target of 1000 participants suggests significant investment in this program.

Is This Trial Right for Me?

Ask your doctor if your personal or family history of cancer or genetic conditions might make you eligible for cancer genetics research. Be prepared to provide detailed information about your personal and family medical history, including cancer diagnoses and genetic testing results. The day-to-day involvement will primarily be filling out the initial screening questionnaire. The trial is being conducted at 1 site. Always discuss clinical trial participation with your healthcare provider before making any decisions. This information is for educational purposes only and is not medical advice.

AI-generated analysis for educational purposes only. This is not medical advice. Discuss clinical trial participation with your doctor. Data sourced from ClinicalTrials.gov.

Study Design

• Study Type: OBSERVATIONAL
• Enrollment: 1,000 participants

Primary Outcomes

• Number of Eligible Participants Identified (Duration of the protocol)

Full Eligibility Criteria

* INCLUSION CRITERIA

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:

1. 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
2. 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 02C0052: Fanconi anemia: FA patients have relatively specific birth defects, aplastic anemia, increased chromosome breakage in cells cultured with a DNA crosslinking agent such as mitomycin C (MMC) or diepoxybutane (DEB), pathogenic variant(s) in one of the cloned genes (six genes at this time), or assignment to one of the 7 or more co

Trial Locations

• National Cancer Institute, Rockville, Maryland, United States

Frequently Asked Questions

Related Conditions

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

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