Discovering New Genetic Markers in Adults and Children Who May Be At Risk for Hereditary Forms of Cancer

Study Overview
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Brief Summary
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This study is being done to attempt to identify genetic mutations or other gene-based variations in adults and children who have cancer, or are likely to develop an inherited form of cancer, and potentially reduce their risk for cancer or treat the cancer earlier.

Official Title
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Discovery and Characterization of Susceptibility Genes in Adults and Children With Suspected Hereditary Cancer Predisposition

Conditions
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Cancer

Intervention / Treatment
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* Other: Family History Information
* Genetic: ORAGENE
* Genetic: Blood
* Other: Skin Biopsy


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Individuals who have undergone clinical and/or research genetic evaluation, found to have or not have a germline genetic variant (pathogenic, likely pathogenic, variant of uncertain/unknown significance, likely benign). Individuals with or without a personal history of malignant or pre-malignant lesions who demonstrate: a) clinical findings suggestive of a genetic cancer susceptibility syndrome including very early age at onset, multiple primary malignancies, or other features; and/or b) family histories suggestive of a genetic cancer susceptibility syndrome, or c) other features suggesting inherited etiology of malignancy as determined by the PI. Family members of the above participants. Both children (with parental consent as age appropriate) and adults are eligible to participation. Individuals may or may not be enrolled MSK patients; probands may be referred to (or self-referred to) the study and may be enrolled at discretion of the PI and if able to provide informed consent. Biospecimens derived from deceased family members may be used for research in this study if consent if provided by the executor of the estate of that individual. Exclusion Criteria: Patients will be excluded from this study if he/she has physical, cognitive or psychiatric conditions that interfere with ability to give meaningful informed consent.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Proband<br>First individual in a family to consent to this protocol | Other: Family History Information<br>* The family history ascertainment focuses on self-reported family history of first-, second-, and third-degree family members, including types of malignancies/ pre-malignant lesions and age at diagnosis.<br>Genetic: ORAGENE<br>* Approximately 2-4mL of saliva may be collected in specialized Oragene DNA Self-Collection Kit tubes or buccal swab-based collection devices.<br>* Other names: Saliva;Genetic: Blood<br>* For select participants, 1-2 tubes of blood will be drawn for DNA and RNA analysis<br>Other: Skin Biopsy<br>* In certain circumstances, for Memorial Sloan Kettering participants and their family members, it may be necessary to obtain a skin biopsy.<br>|
| Family Member Participants<br>Family members of the proband will be approached to consent to this protocol | Other: Family History Information<br>* The family history ascertainment focuses on self-reported family history of first-, second-, and third-degree family members, including types of malignancies/ pre-malignant lesions and age at diagnosis.<br>Genetic: ORAGENE<br>* Approximately 2-4mL of saliva may be collected in specialized Oragene DNA Self-Collection Kit tubes or buccal swab-based collection devices.<br>* Other names: Saliva;Genetic: Blood<br>* For select participants, 1-2 tubes of blood will be drawn for DNA and RNA analysis<br>Other: Skin Biopsy<br>* In certain circumstances, for Memorial Sloan Kettering participants and their family members, it may be necessary to obtain a skin biopsy.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Discovery of novel cancer susceptibility genes |  | Up to 10 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Genetic evaluation, Germline genetic variant, Genetic cancer, Memorial Sloan Kettering Cancer Center, 19-133