- Zhou, Stanley;
- Hawley, James R;
- Soares, Fraser;
- Grillo, Giacomo;
- Teng, Mona;
- Madani Tonekaboni, Seyed Ali;
- Hua, Junjie Tony;
- Kron, Ken J;
- Mazrooei, Parisa;
- Ahmed, Musaddeque;
- Arlidge, Christopher;
- Yun, Hwa Young;
- Livingstone, Julie;
- Huang, Vincent;
- Yamaguchi, Takafumi N;
- Espiritu, Shadrielle MG;
- Zhu, Yanyun;
- Severson, Tesa M;
- Murison, Alex;
- Cameron, Sarina;
- Zwart, Wilbert;
- van der Kwast, Theodorus;
- Pugh, Trevor J;
- Fraser, Michael;
- Boutros, Paul C;
- Bristow, Robert G;
- He, Housheng Hansen;
- Lupien, Mathieu
Prostate cancer is the second most commonly diagnosed malignancy among men worldwide. Recurrently mutated in primary and metastatic prostate tumors, FOXA1 encodes a pioneer transcription factor involved in disease onset and progression through both androgen receptor-dependent and androgen receptor-independent mechanisms. Despite its oncogenic properties however, the regulation of FOXA1 expression remains unknown. Here, we identify a set of six cis-regulatory elements in the FOXA1 regulatory plexus harboring somatic single-nucleotide variants in primary prostate tumors. We find that deletion and repression of these cis-regulatory elements significantly decreases FOXA1 expression and prostate cancer cell growth. Six of the ten single-nucleotide variants mapping to FOXA1 regulatory plexus significantly alter the transactivation potential of cis-regulatory elements by modulating the binding of transcription factors. Collectively, our results identify cis-regulatory elements within the FOXA1 plexus mutated in primary prostate tumors as potential targets for therapeutic intervention.