Germline Alterations of Tumor Susceptibility Genes in New York Cancer Patients

April 1, 2026 updated by: Memorial Sloan Kettering Cancer Center
The basic premise of this research proposal is to determine whether there is any significant association between germline polymorphisms and cancers of colon, bladder, breast, testicular, prostate, ovaries, kidney, lung, lymphoid organs, and head and neck. This is an exploratory study designed to generate hypotheses for further research.

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

Detailed Description

To establish significant correlations between genetic polymorphisms and cancer, a largescale, systematic comparison of genetic alterations utilizing a case-control methodology is proposed. To date, such studies have been limited due to the large number of samples necessary for obtaining statistical significance, and the lack of rapid and accurate methods to screen for genetic polymorphisms. We propose to utilize an anonymized design to obtain DNA from residual material from routine diagnostic blood tests, to link these samples to a limited set of clinical variables, and to test for the frequency of candidate low-penetrance cancer susceptibility alleles. These data will be combined with similar data from a control group of age- and ethnically-matched volunteers for a related cohort study to be conducted separately. Polymorphisms to be screened for include those involving the genes PTEN, APC, TGF βR-I, BLM, CHK2, a p85 phosphoprotein, ATM, ER, PR, MCP-1, MPIF, CCR2/5, CCR3, and SULT1A1. Cancers to be included are breast, bladder, kidney,colon, testicular, lung, prostate, ovarian, lymphoid neoplasms, and head and neck carcinomas. Genes with SNPs known to be relevant for either the development or treatment of lymphoid malignancies will also be targeted. Specifically, candidate genes will be selected from 1) cytokine signaling, 2) DNA repair, and 3) apoptosis regulatory pathways.

Study Type

Interventional

Enrollment (Actual)

21081

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • New York
      • New York, New York, United States, 10065
        • Memorial Sloan Kettering Cancer Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Description

Inclusion Criteria:

  • Patients with a histologic diagnosis of cancer of the colon, breast, bladder, kidney, testicles, lungs, prostate, head and neck, or lymphoid organs, who have donated a diagnostic blood sample as either an inpatient or outpatient at MSKCC.
  • All patients who have two or more histologic diagnoses of the same primary tumor type involving the above sites.
  • Patients of Ashkenazi Jewish ancestry with a histologic diagnosis of cancer of any type.
  • Samples ascertained as part of protocol 98-024A(1) are also eligible for ascertainment in this study.

Exclusion Criteria:

  • MSKCC patients without a histologic diagnosis of cancer of the breast, bladder, kidney, colon, testicles, lungs, prostate, or lymphoid malignancy (including all types of lymphoma) will not be eligible for the AMDeC sponsored component of the study.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Screening
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Active Comparator: 1
All incident second primary cancers of colon, breast, bladder, kidney, prostate, ovarian cancer lung cancer and lymphoid cancer diagnosed between 1999 and present will be included in the secondary design to compare second primary cancer "cases" and first primary "controls".
Genetic: PCR/PCR/LDR Strategy
Evaluate the extent to which polymorphisms in BRCA1, BRCA2, PTEN, T β R1, TGF β-1, DNA repair genes (including ATM and CHK2), APC, ER, PR, MCP-1, MPIF, CCR2/5 and CCR3 are correlated with cancer incidence. Candidate genes will also be selected from 1) cytokine signaling and 2) apoptosis regulatory pathways.
Placebo Comparator: 2
Controls will be volunteer blood donors from the New York Blood Center as well as normal volunteers from other AMDeC sites.
Genetic: PCR/PCR/LDR Strategy
Evaluate the extent to which polymorphisms in BRCA1, BRCA2, PTEN, T β R1, TGF β-1, DNA repair genes (including ATM and CHK2), APC, ER, PR, MCP-1, MPIF, CCR2/5 and CCR3 are correlated with cancer incidence. Candidate genes will also be selected from 1) cytokine signaling and 2) apoptosis regulatory pathways.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
To collect anonymized germline DNA from patients with breast, bladder, kidney, lung, colon, testicular, prostate, lymphoid, ovarian or head and neck cancers, as well as patients with multiple primary cancers, from select New York City ethnic groups.
Time Frame: 20 years
20 years

Secondary Outcome Measures

Outcome Measure
Time Frame
To analyze DNA samples from matched non-cancer individuals of the same ethnic groups available as part of the AMDeC-sponsored New York Cancer Study.
Time Frame: 20 years
20 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Memorial Sloan Kettering Cancer Center

Collaborators

Columbia University
Icahn School of Medicine at Mount Sinai
Weill Medical College of Cornell University

Investigators

  • Principal Investigator: Kenneth Offit, MD, Memorial Sloan Kettering Cancer Center

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

March 1, 2000

Primary Completion (Estimated)

March 1, 2027

Study Completion (Estimated)

March 1, 2027

Study Registration Dates

First Submitted

December 20, 2007

First Submitted That Met QC Criteria

December 21, 2007

First Posted (Estimated)

December 24, 2007

Study Record Updates

Last Update Posted (Actual)

April 7, 2026

Last Update Submitted That Met QC Criteria

April 1, 2026

Last Verified

April 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 00-014

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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