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Recruiting NCT05734430

Genetics of Appendix Cancer Study

— Observational Appendix Cancer Appendiceal Cancer Appendiceal Neoplasms Appendiceal Mucinous Neoplasm

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Genetic profiling, Retrospective tissue procurement.
Who it may be relevant to
Registry conditions: Appendix Cancer, Appendiceal Cancer, Appendiceal Neoplasms, Appendiceal Mucinous Neoplasm. Basic parameters: from 18 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

Genetics of Appendix Cancer: The GAP Study

Overview

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

  • Genetic Genetic profiling
    Whole exome sequencing
  • Other Retrospective tissue procurement
    Collection of archived fixed-formalin, paraffin-embedded (FFPE) primary appendix tumor tissues that were previously removed

Primary outcome measures

  • 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 outcome measures (1)
  • Association of germline genetic variants with clinical, pathologic and molecular features of appendix tumors [Time frame: Within 6 years of study enrollment]

Eligibility criteria

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Observational model
Cohort

Study locations

United States · 1 center
  • Vanderbilt-Ingram Cancer Center — Nashville

Publications

  • 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. PMID 36368039
  • 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 PMID 39979656
  • 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. 202 PMID 37358310

Identifiers

NCT: NCT05734430 · VICC GI 2280

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗