Genetics of Appendix Cancer Study

Andreana Holowatyj, PhD, MSCI700 enrolled

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.

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.

Study Type

OBSERVATIONAL

Enrollment

700

Conditions

Appendix Cancer Appendiceal Cancer Appendiceal Neoplasms Appendiceal Mucinous Neoplasm Appendiceal Adenocarcinoma Appendiceal Carcinoid Tumor Appendiceal Neoplasm Malignant Secondary

Interventions

Genetic profilingGENETIC

Whole exome sequencing

Retrospective tissue procurementOTHER

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

Eligibility

Sex: ALLMin age: 18 YearsHealthy volunteers:

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

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 Outcomes

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