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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| GAP Social | Individuals ages 18+ years with an appendix cancer diagnosis in the United States. |
| |
| GAP Vanderbilt | Individuals ages 18+ years with an appendix cancer diagnosis seen at Vanderbilt. |
| |
| GAP Parent | Biological parents of active GAP (Social and Vanderbilt) Study participants. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genetic profiling | Genetic | Whole exome sequencing |
|
| Measure | Description | 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Association of germline genetic variants with clinical, pathologic and molecular features of appendix tumors | Within 6 years of study enrollment |
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Inclusion Criteria:
GAP Social
GAP Vanderbilt
GAP Parent
Exclusion Criteria:
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Individuals age 18+ years diagnosed with appendix cancer, and biological parents of study participants.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| GAP Study Coordinator (Rebecca B.) | Contact | 615-936-8544 | gapcancerstudy@vumc.org |
| Name | Affiliation | Role |
|---|---|---|
| Andreana N Holowatyj, PhD, MSCI | Vanderbilt-Ingram Cancer Center | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Vanderbilt-Ingram Cancer Center | Recruiting | Nashville | Tennessee | 37232 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 36368039 | Background | 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. | |
| 39979656 | 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. |
| Label | URL |
|---|---|
| GAP Study Website | View source |
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| Retrospective tissue procurement | Other | Collection of archived fixed-formalin, paraffin-embedded (FFPE) primary appendix tumor tissues that were previously removed |
|
| 37358310 | 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. |
| ID | Term |
|---|---|
| D001063 | Appendiceal Neoplasms |
| D002288 | Adenocarcinoma, Mucinous |
| ID | Term |
|---|---|
| D002430 | Cecal Neoplasms |
| D007414 | Intestinal Neoplasms |
| D005770 | Gastrointestinal Neoplasms |
| D004067 | Digestive System Neoplasms |
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D004066 | Digestive System Diseases |
| D005767 | Gastrointestinal Diseases |
| D002429 | Cecal Diseases |
| D007410 | Intestinal Diseases |
| D000230 | Adenocarcinoma |
| D002277 | Carcinoma |
| D009375 | Neoplasms, Glandular and Epithelial |
| D009370 | Neoplasms by Histologic Type |
| D018297 | Neoplasms, Cystic, Mucinous, and Serous |
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| ID | Term |
|---|---|
| D016172 | DNA Fingerprinting |
| ID | Term |
|---|---|
| D056667 | Biometric Identification |
| D001699 | Biometry |
| D013223 | Statistics as Topic |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D005821 | Genetic Techniques |
| D012637 | Security Measures |
| D009934 | Organization and Administration |
| D006298 | Health Services Administration |
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