Grant Details
Grant Number: |
3R01CA014235-26S2 Interpret this number |
Primary Investigator: |
Swift, Michael |
Organization: |
New York Medical College |
Project Title: |
Neoplasia Predisposing Gene of Man |
Fiscal Year: |
2000 |
Abstract
DESCRIPTION: (Adapted from the Investigator's Abstract) The mutated ataxia
telangiectasia (AT) gene causes a distinctive neurological, immunological
and cancer-prone syndromes in homozygotes. Heterozygous carriers of this
gene constitute about 1 percent of the general population. The principal
investigator and others have generated data that support the hypothesis that
these heterozygous carriers are predisposed to breast and other cancers.
Prospective clinical data will be continued to be collected from blood
relatives in approximately 266 AT families already participating in this
study. These will be incorporated with their own detailed retrospective
health and mortality data. DNA samples will be collected for as many
relatives as possible. The specific AT mutations segregating in these
families will be determined as a basis for eventual population-based
studies, to evaluate the role of different mutations in disease
predisposition, and for use in this study.
The AT gene carrier status of each participating relative will be determined
through linked haplotypes or direct mutation detection. The excess
mortality and disease risk of AT heterozygotes compared to non-carriers will
be evaluated by rate ratio analysis of the prospective mortality and disease
incidence rates. The statistically powerful unbiased index-test method will
be used to estimate the relative risk of the AT heterozygote for specific
cancers and ischemic heart disease. The role of environmental factors such
as ionizing radiation and smoking will be examined through nested
case-control studies. New measures to reduce the mortality and excess
disease incidence of AT heterozygotes will be developed based upon the
findings of this study.
Publications
None. See parent grant details.