# Project 1 - Single Nucleotide Polymorphisms in DNA Repair Genes and Cancer

> **NIH NIH P01** · UNIVERSITY OF VERMONT & ST AGRIC COLLEGE · 2020 · $357,468

## Abstract

SUMMARY
Base excision repair (BER) is a major pathway that functions to maintain genome stability. During the past few
years many human germline and tumor genomes have been sequenced, resulting in the identification of
mutations in a number of genes including those that function in BER. However, little is known about these
mutations because many of them are rare, precluding population-based genetic studies. The rationale is that
functional characterization of these germline and somatic variants will provide important insights into their
functions with specific regard to human cancer. The broad, long-term objectives of the proposed research are
to determine if there is a link between the presence of variants in the BER genes and human cancer. The
other objective is to determine if and how mutations in these genes impact cancer therapy. The specific aims
are 1) To test the hypothesis that human germline and somatic variants of the NEIL1, 2, 3, NTHL1 and OGG1
DNA glycosylases exhibit functional phenotypes related to the etiology of human cancer; 2) To test the
hypothesis that germline and somatic variants of the human DNA glycosylases NEIL1, 2, 3, NTHL1, and
OGG1 have the potential to impact cancer treatment. Core A, in collaboration with the other projects, will
identify variants for functional characterization. Project 1 will characterize variants that exhibit functional and/or
structural defects identified in Projects 2, 3, and 4. A combined genetics and cell biology approach will be used
to characterize these variants and assess their ability to induce genomic instability, cellular transformation, and
to impact responses to chemotherapies. Project 1 will also participate in the characterization of the biological
phenotypes of mutants produced in Project 4.

## Key facts

- **NIH application ID:** 10014604
- **Project number:** 5P01CA098993-14
- **Recipient organization:** UNIVERSITY OF VERMONT & ST AGRIC COLLEGE
- **Principal Investigator:** Joann B. Sweasy
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $357,468
- **Award type:** 5
- **Project period:** — → —

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10014604

## Citation

> US National Institutes of Health, RePORTER application 10014604, Project 1 - Single Nucleotide Polymorphisms in DNA Repair Genes and Cancer (5P01CA098993-14). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10014604. Licensed CC0.

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