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.
Allocation: Non-Randomized, Intervention Model: Parallel Assignment, Masking: Open Label, Primary Purpose: Screening
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.
Kenneth Offit, MD
Memorial Sloan-Kettering Cancer Center
United States: Institutional Review Board
|Memorial Sloan-Kettering Cancer Center||New York, New York 10021|