RecruitingObservational

Genetics of Appendix Cancer: The GAP Study

NCT ID: NCT05734430Sponsor: Andreana Holowatyj, PhD, MSCILast updated: 2025-04-18

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.

Arms & 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

Outcome measures

Primary

Prevalence and spectrum of pathogenic and likely pathogenic germline variants in appendix cancer patients and their biological parents
Time frame: Within 6 years of study enrollment

Secondary

Association of germline genetic variants with clinical, pathologic and molecular features of appendix tumors
Time frame: Within 6 years of study enrollment

Eligibility criteria

Sex: AllAge: 18 Years and olderHealthy 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

Study locations (1)

Vanderbilt-Ingram Cancer Center

Nashville, Tennessee, 37232

Recruiting

GAP Study Coordinator (Rebecca B.) · Contact

615-936-8544 gapcancerstudy@vumc.org

Andreana N Holowatyj, PhD, MSCI · Principal Investigator

References

Holowatyj AN, Washington MK, Tavtigian SV, Eng C, Horton C. Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer. JAMA Oncol. 2022 Nov 11;9(1):95-101. doi: 10.1001/jamaoncol.2022.5425. Online ahead of print.(PubMed)
Holowatyj AN, Overman MJ, Votanopoulos KI, Lowy AM, Wagner P, Washington MK, Eng C, Foo WC, Goldberg RM, Hosseini M, Idrees K, Johnson DB, Shergill A, Ward E, Zachos NC, Shelton D; Appendix Cancer Pseudomyxoma Peritonei (ACPMP) Research Foundation. Defining a 'cells to society' research framework for appendiceal tumours. Nat Rev Cancer. 2025 Apr;25(4):293-315. doi: 10.1038/s41568-024-00788-2. Epub 2025 Feb 20.(PubMed)
Janczewski LM, Browner AE, Cotler JH, Nelson H, Kakar S, Carr NJ, Hanna NN, Holowatyj AN, Goldberg RM, Washington MK, Asare EA, Overman MJ; American Joint Committee on Cancer Expert Panel on Cancers for the Lower Gastrointestinal Appendix Disease Site. Survival outcomes used to validate version 9 of the American Joint Committee on Cancer staging system for appendiceal cancer. CA Cancer J Clin. 2023 Nov-Dec;73(6):590-596. doi: 10.3322/caac.21806. Epub 2023 Jun 26.(PubMed)