Appendiceal Adenocarcinoma, Appendiceal Cancer, Appendiceal Carcinoid Tumor, Appendiceal Mucinous Neoplasm, Appendiceal Neoplasm Malignant Secondary, Appendiceal Neoplasms, Appendix Adenocarcinoma, Appendix Cancer, Appendix Cancer Metastatic, Appendix Mucinous Neoplasm, Appendix NET, Appendix Tumor, High Grade Appendix Mucinous Adenocarcinoma, High Grade Appendix Mucinous Neoplasm, Low-Grade Appendix Mucinous Neoplasm
Conditions
Keywords
Genetics
Brief summary
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
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.
Interventions
GENETICGenetic profiling
Whole exome sequencing
OTHERRetrospective tissue procurement
Collection of archived fixed-formalin, paraffin-embedded (FFPE) primary appendix tumor tissues that were previously removed
Sponsors
Andreana Holowatyj, PhD, MSCI
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | 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
| Measure | Time frame |
|---|---|
| Association of germline genetic variants with clinical, pathologic and molecular features of appendix tumors | Within 6 years of study enrollment |
Countries
United States
Contacts
Primary ContactGAP Study Coordinator (Rebecca B.)
Outcome results
None listed