# Elucidation of the genetic mechanisms driving prostate tumorigenesis through integrative computational and functional approaches

> **NIH NIH R01** · DANA-FARBER CANCER INST · 2021 · $713,783

## Abstract

PROJECT SUMMARY/ABSTRACT
Although genome-wide association studies (GWAS) have been extremely successful in identifying numerous
germline variants associated to risk for prostate cancer, the causal mechanism between genetic variation and
disease risk remains largely unknown at the vast majority of these loci. This prohibits the full realization of
novel drug targets and/or personalized treatments. In the quest to address this gap, post-GWAS studies are
experiencing a “big data” revolution driven by the exponentially decreasing costs of high-throughput genomic
assays. Multiple layers of data (genetic variation, transcriptome levels, epigenetic modifications, localization of
tissue-specific regulatory sites, 3D interactions, etc.) are routinely collected in increasingly large cohorts of
individuals. This raises the need for rigorous computational and experimental frameworks that integrate various
types of data to identify and validate causal genes and variants in prostate cancer. Here we propose a rigorous
framework aimed at loci where risk is mediated through alteration in gene expression levels. We deliberately
and exhaustively propose to examine all risk loci for prostate cancer to prioritize causal variants and genes and
to functionally validate them in prostate cancer tissue and cell lines.

## Key facts

- **NIH application ID:** 10209764
- **Project number:** 1R01CA251555-01A1
- **Recipient organization:** DANA-FARBER CANCER INST
- **Principal Investigator:** MATTHEW L FREEDMAN
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $713,783
- **Award type:** 1
- **Project period:** 2021-03-02 → 2026-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10209764

## Citation

> US National Institutes of Health, RePORTER application 10209764, Elucidation of the genetic mechanisms driving prostate tumorigenesis through integrative computational and functional approaches (1R01CA251555-01A1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10209764. Licensed CC0.

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