Genetics of Appendix Cancer Study

NCT05734430 | Recruiting

• 1 other identifier: VICC GI 2280
• Study Type: observational
• Target: 700
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

Genetics

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Association of germline genetic variants with clinical, pathologic and molecular features of appendix tumors

  Within 6 years of study enrollment

Study Arms (3)

GAP Social

Individuals ages 18+ years with an appendix cancer diagnosis in the United States.

Genetic: Genetic profiling; Other: Retrospective tissue procurement

GAP Vanderbilt

Individuals ages 18+ years with an appendix cancer diagnosis seen at Vanderbilt.

Genetic: Genetic profiling; Other: Retrospective tissue procurement

GAP Parent

Biological parents of active GAP (Social and Vanderbilt) Study participants.

Genetic: Genetic profiling

Interventions

Genetic profiling GENETIC

Whole exome sequencing

GAP Parent; GAP Social; GAP Vanderbilt

Retrospective tissue procurement OTHER

Collection of archived fixed-formalin, paraffin-embedded (FFPE) primary appendix tumor tissues that were previously removed

GAP Social; GAP Vanderbilt

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals age 18+ years diagnosed with appendix cancer, and biological parents of study participants.

You may qualify if:

• 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

You may not qualify if:

• Women pregnant at the time of consent
• Prisoners
• Unable to provide informed consent
• Unable to read, write, or complete questionnaires in English

Sponsors & Collaborators

• Andreana Holowatyj, PhD, MSCI: lead

Study Sites (1)

Vanderbilt-Ingram Cancer Center

Nashville, Tennessee, 37232, United States

RECRUITING

Related Publications (3)

• 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 BACKGROUND

• 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.

  PMID: 39979656 BACKGROUND

• 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.

  PMID: 37358310 BACKGROUND

Related Links

• GAP Study Website

MeSH Terms

Conditions

Appendiceal Neoplasms; Adenocarcinoma, Mucinous

Interventions

DNA Fingerprinting

Condition Hierarchy (Ancestors)

Cecal Neoplasms; Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Neoplasms by Site; Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Cecal Diseases; Intestinal Diseases; Adenocarcinoma; Carcinoma; Neoplasms, Glandular and Epithelial; Neoplasms by Histologic Type; Neoplasms, Cystic, Mucinous, and Serous

Intervention Hierarchy (Ancestors)

Biometric Identification; Biometry; Statistics as Topic; Epidemiologic Methods; Investigative Techniques; Genetic Techniques; Security Measures; Organization and Administration; Health Services Administration

Study Officials

• Andreana N Holowatyj, PhD, MSCI

  Vanderbilt-Ingram Cancer Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

GAP Study Coordinator (Rebecca B.)

CONTACT

615-936-8544; gapcancerstudy@vumc.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Sponsor Investigator

Study Record Dates

• First Submitted: February 8, 2023
• First Posted: February 21, 2023
• Study Start: November 11, 2022
• Primary Completion (Estimated): November 1, 2032
• Study Completion (Estimated): November 1, 2034
• Last Updated: April 18, 2025

Record last verified: 2025-04

Locations

US (1)