Discovering New Targets for Colorectal and Endometrial Cancer Risk Reduction

NCT ID: NCT06096688

Last Updated: 2025-09-04

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 1120 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2019-05-29
• Study Completion Date: 2026-12-31

Brief Summary

The primary aim of this study is to collect and store data, tissue, and personal and family histories from patients being screened for colorectal cancer and/or endometrial cancer at NYPH and WCM for routine clinical care and to make these available for future use for molecular and mechanistic studies.

Detailed Description

Colorectal cancer (CRC) and endometrial cancer (EC) have a highly heritable component. Approximately 25% of CRC or EC patients have another first or second degree relative who are also affected by CRC or EC, and there are at least 32 known high penetrance CRC/EC germline predisposition genes. The overarching goal of this protocol is to (a) facilitate the discoveries of novel mechanisms in intestinal carcinogenesis and genes inducing genetic predisposition, (b) to help identify new genes and proteins that are amenable to targeted therapy and precision prevention drug intervention and biomarker development in Hereditary Cancer Syndromes, (c) to facilitate understanding and learning about ways of how the immune system can be used to recognize and kill tumor cells that carry mutations. To accomplish these goals, we plan to pursue the following aims:

1. To collect tissue and blood samples for storage, so they can be made available to future research studies and scientist aiming to learn more about the underlying causes of gastrointestinal cancers and endometrial cancers, both in patients with hereditary cancer syndromes and in the general population,

2. To develop organoids from adenocarcinomas, polyps, and normal intestinal mucosa samples in patients with Hereditary Cancer Syndromes and a sporadic cohort as a comparator and control. These organoids will be derived from tissue biopsies of different parts of the intestinal tract, other GI organs, and endometrium in order to perform assessment of drug sensitivity and molecular biology experiments to understand the biology and carcinogenesis of the intestine.

To accomplish these goals, we will obtain normal mucosa, polyp tissue and carcinoma (tumor tissue) arising in the upper gastrointestinal tract (mainly the duodenum, but also other potential locations such as the esophagus, GE junction, stomach, and small bowel), lower gastrointestinal tract (mainly the colorectum), paired normal mucosa samples, endometrial tissue, and blood and as a source of genomic DNA, RNA, and protein.

The biospecimen samples will be collected in the context of standard of care (SOC) endoscopic procedure(s) and/or from pathologic specimens obtained during gastrointestinal (GI) endoscopy procedures and surgery performed at Weill Cornell or New York Presbyterian Hospital, including diagnostic testing, clinic and/or treatment visit and/or from residual blood. These tissue samples and blood samples were collected in the context of routine care and procedures performed at Weill-Cornell and NYPH. Biospecimen samples will also be collected in the context of SOC transvaginal ultrasound, hysteroscopy and endometrium biopsy performed at Weill Cornell or New York Presbyterian Hospital, including diagnostic testing, clinic and/or treatment visit.

Blood samples will be collected at the time blood is taken for clinical care. We will register, collect, process and store frozen blood, frozen normal and diseased tissue and FFPE (formalin fixed paraffin embedded) specimens.

This will be an invaluable annotated hereditary CRC/EC registry and tissue repository that will be available to the Weill Cornell Community upon appropriate approval. Subjects that provide informed consent will agree to collection and storage of clinical data. For the purposes of this project, clinical data includes all data collected for standard clinical purposes (e.g., demographics, medical issues, prognostic data, treatment data, outcomes).

Conditions

Colorectal Cancer; Endometrial Cancer; Hereditary Cancer Syndromes

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

FAP without treatment with NSAIDs

Patients with the Hereditary Cancer Syndrome known as Familial Adenomatous Polyposis (FAP) undergoing upper or lower endoscopy/surgery without treatment with NSAIDs

No interventions assigned to this group

FAP on treatment with NSAIDs

Patients with the Hereditary Cancer Syndrome known as Familial Adenomatous Polyposis (FAP) undergoing upper or lower endoscopy/surgery on treatment with NSAIDs

No interventions assigned to this group

HNPCC without treatment with NSAIDs

Patients with the Hereditary Cancer Syndrome known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) undergoing lower endoscopy/surgery without treatment with NSAIDs

No interventions assigned to this group

HNPCC on treatment with NSAIDs

Patients with the Hereditary Cancer Syndrome known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) undergoing lower endoscopy/surgery on treatment with NSAIDs

No interventions assigned to this group

Other Hereditary Colorectal Cancer Syndromes

Other Hereditary Colorectal Cancer Syndromes undergoing lower endoscopy/surgery

No interventions assigned to this group

Average-risk population

Average-risk population undergoing lower endoscopy/surgery in the lower gastrointestinal tract.

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

The following eligibility criteria must be met as follows:

1. Age ≥ 18 years old.

2. One of the following must be met:

1. Diagnosis of a Hereditary Cancer Syndrome by positive genetic testing and/or clinical criteria to undergo an endoscopy procedure (esophagoduodenoscopy and/or colonoscopy/flexible sigmoidoscopy), or endometrial screening procedure (transvaginal ultrasound and/or hysteroscopy and/or endometrial biopsy), OR

2. Individuals coming to Weill-Cornell Medicine/NYPH to undergo an endoscopy procedure, transvaginal ultrasound, or hysteroscopy for average-risk (population-based) recommendation OR

3. Individuals diagnosed with colorectal cancer or endometrial cancer coming to Weill- Cornell Medicine/NYPH for surgical treatment OR

4. Individuals coming to Weill-Cornell Medicine/NYPH for care such as, but not limited to, diagnostic testing, clinic and/or treatment visit.

3. Willingness and ability to sign informed consent.

4. Ability to read/understand English, Spanish, and/or simplified Chinese.

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

National Cancer Institute (NCI)

NIH

Sponsor Role: collaborator

Weill Medical College of Cornell University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Steven M Lipkin, MD

Role: PRINCIPAL_INVESTIGATOR

Weill Medical College of Cornell University

Locations

NYP/Weill Cornell Medicine

New York, New York, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Steven M Lipkin, MD, PhD

Role: CONTACT

stl2012@med.cornell.edu

212-746-4014

Melissa K Frey, MD, MS

Role: CONTACT

mkf2002@med.cornell.edu

646-697-6621

Facility Contacts

Steven M Lipkin, MD, PhD

Role: primary

stl2012@med.cornell.edu

212-746-4014

Other Identifiers

U01CA233056

Identifier Type: NIH

Identifier Source: secondary_id

View Link

1803019093

Identifier Type: -

Identifier Source: org_study_id