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DNA Mismatch Repair Functional Genetic Tests

Award Information
Agency: Department of Health and Human Services
Branch: National Institutes of Health
Contract: N/A
Agency Tracking Number: 2R44CA081965-02
Amount: $0.00
Phase: Phase I
Program: SBIR
Solicitation Topic Code: N/A
Solicitation Number: N/A
Solicitation Year: N/A
Award Year: 2001
Award Start Date (Proposal Award Date): N/A
Award End Date (Contract End Date): N/A
Small Business Information
BOX 1499
United States
HUBZone Owned: No
Woman Owned: No
Socially and Economically Disadvantaged: No
Principal Investigator
 () -
Business Contact
Phone: (818) 707-3712
Research Institution

DESCRIPTION: (provided by applicant)

Genomic instability is associated with cancer progression, and defects in DNA
mismatch repair (MMR) is one pathway leading to genomic instability.
Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by mutations in
genes encoding proteins involved in MMR, and defects in MMR have also been
observed in sporadic cancers. DNA sequence analyses of the alterations in MMR
genes in HNPCC kindreds has revealed that more than 25% are missense codons
resulting in single amino acid replacements. It is not possible to
unambiguously assign these as either mutations or silent polymorphisms without
data on the in vivo function of the variant proteins.

Phase I research validated the use of functional genetic tests of DNA mismatch
repair in yeast to determine the significance of amino acid replacements
observed in human MMR proteins. In addition to identification of silent
polymorphisms and mutations, certain amino acid replacements were shown to
result in altered efficiency of MMR. Phase II research will further develop
this technology for the purpose of retrospective and prospective analyses of
the functional consequences of amino acid replacements in human MMR proteins.
Data generated with this technology will allow accurate interpretation of
genetic tests for HNPCC, sporadic cancers and common polymorphisms in MMR

Not Available

* Information listed above is at the time of submission. *

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