# Probing the role of epigenomics in Brca1-deficient mammary tumors.

> **NIH NIH R01** · COLD SPRING HARBOR LABORATORY · 2021 · $439,200

## Abstract

Abstract/Project Summary
Every year, breast cancer kills more than a half-million women worldwide. Monumental efforts have made an
impact toward understanding primary disease and the development of targeted therapies. Yet, these therapies
still fail many women initially, and others relapse with therapy-resistant disease. Thus, we must focus on
developing better tools to predict disease susceptibility in those at higher risk, while augmenting the search for
molecularly based strategies to prevent breast cancer.
More specifically, mutations in the BRCA1 genes, and their consequent loss of function, are the most clinically
relevant genomic alterations that increase the susceptibility of individuals to breast cancer. Still, not all women
with BRCA1 mutations will develop breast cancer. Thus, we need a clear picture of the mechanisms that
govern cancer susceptibility. Our main goal is to define how the epigenome alters the development of
Brca-1 deficient mammary tumors.
We previously demonstrated that the mammary epithelium epigenome and specific chromatin remodeling
factors play a role in oncogenesis progression. Now, we hypothesize that the epigenome similarly contributes
to the development of BRCA1 mutant breast tumors. We will use innovative models of mammary oncogenesis
to specifically dissect epigenetic mechanisms that influence the development of Brca1-deficient mammary
tumors.
By investigating the effects of a specific epigenetic regulator (BPTF) and a global epigenomic program
(pregnancy) on mammary tumor progression, we may also identify prognostic biomarkers that will enable us to
identify women who will benefit from therapy. Ultimately, we hope to validate our hypotheses pre-clinically
using normal and malignant human breast organoid cultures, to aid the development of strategies that will be
useful as primary prevention in humans.

## Key facts

- **NIH application ID:** 10115007
- **Project number:** 5R01CA248158-02
- **Recipient organization:** COLD SPRING HARBOR LABORATORY
- **Principal Investigator:** Camila dos Santos
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $439,200
- **Award type:** 5
- **Project period:** 2020-03-01 → 2025-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10115007

## Citation

> US National Institutes of Health, RePORTER application 10115007, Probing the role of epigenomics in Brca1-deficient mammary tumors. (5R01CA248158-02). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10115007. Licensed CC0.

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