NEW PREPRINT from pai lab: BREAST CANCER GENE in human brain development and cancer

🎉 Excited to share our preprint: “BRCA1 is a molecular correlate of cell proliferation in human brain development and in Group 3 and 4 medulloblastoma”!

BRCA1, a gene usually linked to breast cancer risk, is showing a surprising connection to human brain development and pediatric brain cancer. Our findings suggest that BRCA1 helps keep brain cells, known as neural progenitors, multiplying during early brain development. It’s also increased in certain forms of medulloblastoma, where it may contribute to tumour growth. Medulloblastoma is a malignant childhood hindbrain cancer that is believed to arise during brain development. This cancer lacks targeted molecular therapies.

Our finding argues for more studies into the role of BRCA1 in human brain development and on the potential impact of BRCA1-associated disease on the brain. It also highlights the potential of the BRCA1 pathway as a target for therapy in these cancers. 🧬💥

🐭 👶🏽The role of BRCA1 in mouse brain development has been previously documented but to our knowledge, ours is the first study to document its role in human brain development. We validated the enrichment of BRCA1 in human neural progenitors in four independent datasets, spanning 142 brain samples, multiple brain regions, and ~1.7 million cells.

Preprint: https://doi.org/10.1101/2025.04.03.646803

👏Congratulations to our team: Ian Cheong, Nishka Kishore, Andrea Senff-Ribeiro, Ander Díaz Navarro, Xinghan Sun, Leo Lau, Hana Hajari, Ellen Mak, Rhea Ahluwalia, Luca Bianchini, Jaskirat Singh Sandhu.

Collaboration with:
🧬 Lincoln Stein’s team at Ontario Institute for Cancer Research
🧬 Lena Kutscher’s team at the German Cancer Research Center (DKFZ)
🧬 Michael Taylor’s team at Texas Children’s Hospital. A special thank you to the Taylor Lab for all their guidance.
🧬A big thank you to colleagues who have given us feedback on this work.