# Characterizing Genetic Factors that Modulate Stage-Specific Basal Cell Carcinoma Tumorigenesis

> **NIH NIH F31** · UNIVERSITY OF MICHIGAN AT ANN ARBOR · 2021 · $38,036

## Abstract

ABSTRACT
Basal cell carcinoma (BCC) is driven by constitutive activation of the Hedgehog (Hh) signaling pathway, most
commonly through loss-of-function mutations in PTCH1. Our previous studies in mice have shown that upon
deletion of Ptch1, microscopic BCC-like tumors preferentially arise from hair follicle stem cells. While our current
BCC mouse model mimics the early features and genetics of this disease, our preliminary data also suggest that
Ptch1 inactivation may not be sufficient for full progression to macroscopic tumors. Recent exome sequencing
studies have revealed that BCCs harbor the highest mutational burden of all cancers and therefore, this proposal
seeks to test whether recurrent mutations seen in human BCC collaborate with Hh signaling to drive BCC
tumorigenesis. Indeed, previous studies have shown that loss-of-function mutations in NOTCH1/2 and gain-of-
function mutations in MYCN are commonly detected in BCC. Here, we will examine whether loss of Notch1
and/or gain of MYCN collaborates with Hh signaling to drive the efficient formation of full-blown macroscopic
BCC-like tumors. Overall, this proposal will determine whether these genetics events modulate stage-specific
tumor progression and may open up novel therapeutic targeting strategies.

## Key facts

- **NIH application ID:** 10212968
- **Project number:** 5F31CA254080-02
- **Recipient organization:** UNIVERSITY OF MICHIGAN AT ANN ARBOR
- **Principal Investigator:** Kenneth Gordon Trieu
- **Activity code:** F31 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $38,036
- **Award type:** 5
- **Project period:** 2020-07-01 → 2023-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10212968

## Citation

> US National Institutes of Health, RePORTER application 10212968, Characterizing Genetic Factors that Modulate Stage-Specific Basal Cell Carcinoma Tumorigenesis (5F31CA254080-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10212968. Licensed CC0.

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