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Germline Alterations of Tumor Susceptibility Genes in New York Cancer Patients

Open (Enrolling)
Breast Cancer, Colon Cancer, Prostate Cancer, Lung Cancer

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Trial Information

Germline Alterations of Tumor Susceptibility Genes in New York Cancer Patients

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, colon, testicular, lung, prostate,
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.

Inclusion Criteria:

- Patients with a histologic diagnosis of cancer of the colon, breast, 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

- 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, colon,
testicles, lungs, prostate, or lymphoid malignancy (including all types of lymphoma)
will not be eligible for the AMDeC sponsored component of the study.

Type of Study:


Study Design:

Allocation: Non-Randomized, Intervention Model: Parallel Assignment, Masking: Open Label, Primary Purpose: Screening

Outcome Measure:

To collect anonymized germline DNA from patients with breast, colon, testicular, prostate, lymphoid, or head and neck cancers, as well as patients with multiple primary cancers, from select New York City ethnic groups.

Outcome Time Frame:

20 years

Safety Issue:


Principal Investigator

Kenneth Offit, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Memorial Sloan-Kettering Cancer Center


United States: Institutional Review Board

Study ID:




Start Date:

March 2000

Completion Date:

March 2020

Related Keywords:

  • Breast Cancer
  • Colon Cancer
  • Prostate Cancer
  • Lung Cancer
  • Breast Neoplasms
  • Colonic Neoplasms
  • Disease Susceptibility
  • Lung Neoplasms
  • Prostatic Neoplasms



Memorial Sloan-Kettering Cancer Center New York, New York  10021