Thread by @FachalLaura

So glad to finally 😅 share our #breastcancer fine mapping paper published today in @NatureGenet
nature.com/articles/s4158…
Here come the main highlights 👇🏼

We evaluated in detail 150 known #breastcancer risk regions using genotyped 🧬 data from the #BCAC and #CIMBA
Many researchers 👩🏽‍💻🧑🏼‍🔬👩🏻‍🔬👨🏽‍🔬👨🏾‍💻participated in this study that involved more than 200k subjects!

We defined up to 205 independent risk signals with high confidence, and their most plausible candidate variants. Most variants are located at tissue specific #breastcancer regulatory regions and transcription factor binding sites

Integrating tissue specific expression data, Promoter Capture Hi-C data, with different annotation tools though INQUISIT, we identified 191 likely target genes. As suspected, independent risk signals in the same region target the same genes

These likely target genes are also enriched in known somatic #breastcancer driver genes
So genes that initiate and promote breast cancer during our lives through adquired mutations, are also affected by common variation at germline level

We can now identify more transcription factor genes whose expression is affected by risk variants, and their binding sites are also affected by other risk variants

Target genes are involved in development, DNA integrity checkpoint 🛑, programmed cell death, and in immune system pathways

Plenty of work in the following years for the functional biologists 🧑🏼‍🔬👩🏻‍🔬👨🏽‍🔬👩🏽‍💻🧑🏼‍💻🧑🏿‍💻to unravel this!
See for example @Glubbster preprint:
preprints.org/manuscript/201…

Thanks to all involved, participants and researchers
Special mention to the great mentor and supervisor @alison_amd24
Thanks to all the founding sources. I am particularly thankful to the @MSCActions program that allowed me to work on this for two wonderful years