Prospective Registry of Multiplex Testing (PROMPT)

Study Overview
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Brief Summary
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This study is being done to learn more about how changes in certain genes may be linked to cancer. Some people with cancer got their disease because they inherited an abnormal (mutated) gene. The researchers of this study want to better understand the risks that are linked to genetic changes in these less well-studied genes. By understanding these risks, we believe that doctors will be able to give better advice to families with mutations in these genes.

Detailed Description
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PROMPT (Prospective Registry of Multiplex Testing) is an Internet-based, patient-directed ascertainment study. It is a partnership between Memorial Sloan Kettering, University of Pennsylvania, Mayo Clinic, and Dana Farber Cancer Institute in collaboration with Ambry Genetics, GeneDx, Myriad Genetics, Pathway Genomics, and Quest Laboratories (5 laboratories providing multiplex panel testing commercially).

Official Title
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Prospective Registry of Multiplex Testing (PROMPT): Phase II

Conditions
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Genetic Testing

Intervention / Treatment
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* Other: saliva specimen
* Behavioral: questionnaire


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Individual with deleterious (pathogenic) or likely deleterious (likely pathogenic) mutation in a cancer susceptibility gene OR Individual with a variant of uncertain significance (VUS) in a cancer susceptibility gene OR Family members, either tested or not tested, who are part of a family known to be transmitting a deleterious or likely deleterious mutation or a variant of uncertain significance in a cancer predisposition gene Exclusion Criteria: Inability or refusal to participate in consent discussion Subject is less than 18 years old

Ages Eligible for Study
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Minimum Age: 18 Years

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 |
| --- | --- |
| Prospective Registry of Multiplex Testing<br>This is a prospective ascertainment study that will obtain medical information and biospecimens from two different types of families: 1) Families transmitting sequence variants in non-BRCA predisposition genes that are either functionally deleterious or likely to be functionally deleterious based upon the interpretation of the laboratory that performed the testing on the Index Participant (Initial PROMPT enrollee), and 2) Families transmitting variants of uncertain significance (usually rare missense variants) in non- BRCA predisposition genes. Attempts will be made to collect a biospecimen and a completed risk factor questionnaire from each participant. | Other: saliva specimen<br> <br> Behavioral: questionnaire<br> <br> |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Acquire DNA samples |  | 3 years | 
| Acquire pathology materials |  | 3 years |