Prospective Registry of Multiplex Testing (PROMPT)

Active, not recruiting

Brief Summary: 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: 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).

Recruitment & Eligibility

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

Arm && Interventions

Group	Intervention	Description
Prospective Registry of Multiplex Testing	saliva specimen	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.
Prospective Registry of Multiplex Testing	questionnaire	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.

Primary Outcome Measures

Name	Time	Method
Acquire DNA samples	3 years
Acquire pathology materials	3 years

Secondary Outcome Measures

Name	Time	Method

Locations (10): Memorial Sloan Kettering Monmouth
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Middletown, New Jersey, United States
University of Pennsylvania
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Philadelphia, Pennsylvania, United States
Memorial Sloan Kettering Basking Ridge
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Basking Ridge, New Jersey, United States
Memorial Sloan Kettering Cancer Center
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New York, New York, United States
Memorial Sloan Kettering Westchester
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Harrison, New York, United States
Dana Farber Cancer Institute
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Boston, Massachusetts, United States
Mayo Clinic Cancer Center
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Rochester, Minnesota, United States
Memorial Sloan Kettering Bergen
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Montvale, New Jersey, United States
Memorial Sloan Kettering Cancer Center @ Commack
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Commack, New York, United States
Memorial Sloan Kettering @ Rockville
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Rockville Centre, New York, United States