Genetics of Appendix Cancer Study

Study Overview
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Brief Summary
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The GAP Study is a prospective cohort study designed to comprehensively investigate genetic variations that may contribute to cancer development among individuals diagnosed with appendix/appendiceal cancer who are ages 18+ years.

Detailed Description
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The Genetics of Appendix Cancer (GAP) Study aims to analyze hereditary factors, tumor characteristics and clinical features/outcomes among adults diagnosed with appendix cancer and their biological parents. Patients are recruited at any time after a diagnosis of appendix cancer and followed for up to 6 years after study enrollment. This cohort is enriched by robust biospecimens and data collections.

Official Title
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Genetics of Appendix Cancer: The GAP Study

Conditions
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Appendix Tumor, Appendix Cancer, Appendiceal Cancer, Appendiceal Neoplasms, Appendiceal Mucinous Neoplasm, Appendiceal Adenocarcinoma, Appendiceal Carcinoid Tumor, Appendiceal Neoplasm Malignant Secondary, Appendix Adenocarcinoma, Appendix Mucinous Neoplasm, Appendix Cancer Metastatic, Appendix NET, Low-Grade Appendix Mucinous Neoplasm, High Grade Appendix Mucinous Neoplasm, High Grade Appendix Mucinous Adenocarcinoma

Intervention / Treatment
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* Genetic: Genetic profiling
* Other: Retrospective tissue procurement


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: GAP Social Known diagnosis of appendix cancer in the United States Mentally and physically able to consent and participate in the study GAP Vanderbilt Known diagnosis of appendix cancer Diagnosed by and/or consulting with a physician/clinical provider participating in the GAP Study Mentally and physically able to consent and participate in the study GAP Parent Biological parents (mother and/or father) of individuals actively participating in the GAP Study Residing in the United States Mentally and physically able to consent and participate in the study Exclusion Criteria: Women pregnant at the time of consent Prisoners Unable to provide informed consent Unable to read, write, or complete questionnaires in English

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 |
| --- | --- |
| GAP Social<br>Individuals ages 18+ years with an appendix cancer diagnosis in the United States. | Genetic: Genetic profiling<br>* Whole exome sequencing<br>Other: Retrospective tissue procurement<br>* Collection of archived fixed-formalin, paraffin-embedded (FFPE) primary appendix tumor tissues that were previously removed<br>|
| GAP Vanderbilt<br>Individuals ages 18+ years with an appendix cancer diagnosis seen at Vanderbilt. | Genetic: Genetic profiling<br>* Whole exome sequencing<br>Other: Retrospective tissue procurement<br>* Collection of archived fixed-formalin, paraffin-embedded (FFPE) primary appendix tumor tissues that were previously removed<br>|
| GAP Parent<br>Biological parents of active GAP (Social and Vanderbilt) Study participants. | Genetic: Genetic profiling<br>* Whole exome sequencing<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Prevalence and spectrum of pathogenic and likely pathogenic germline variants in appendix cancer patients and their biological parents |  | Within 6 years of study enrollment | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Association of germline genetic variants with clinical, pathologic and molecular features of appendix tumors |  | Within 6 years of study enrollment | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Genetics