@mariazanti.bsky.social‬ and @kmichailidou.bsky.social addressed this by estimating breast cancer risk from case-control data. Variants causing loss-of-function ONLY in HAP1 moderately increased risk (OR=3.3). Yet variants that were loss-of-function in BOTH lines highly increased risk (OR>10). 10/n

Our latest research is out today on ‪@medrxivpreprint.bsky.social:

www.medrxiv.org/content/10.1...

Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk.

Led by the amazing Phoebe Dace. This one’s packed full of data, so check out the paper. Quick highlights… 🧵 1/n

🔬Excited to share our new publication in
@natcomms.nature.com, presenting large-scale case-control evidence for BRCA1/2 variant classification
💡A major step forward in reducing VUS uncertainty in hereditary breast & ovarian cancer
🌍 Incredible teamwork across international consortia

Cyprus-led team makes breast, ovarian cancer breakthrough

20 years of #BCAC and #CIMBA, 20 years of discovery #progresshappenstogether @antonis02.bsky.social

New Publication:

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

@uoe-igc.bsky.social

doi.org/10.1038/s414...

7/ The end! #Genetics #BRCA1 #BRCA2 #CancerResearch #PrecisionMedicine #NatureCommunications #ENIGMA #BCAC #CARRIERS #UKBiobank #HereditaryCancer #GenomicMedicine #Progresshappenstogether #BreastCancer #ESHG2025

6/🌎This work was made possible by an international collaboration under the ENIGMA Analytical Working Group together with the Breast Cancer Association Consortium, the CARRIERS Consortium and the UK Biobank @ukbiobank.bsky.social, together with many collaborators including @antonis02.bsky.social

5/👩‍🔬Let by amazing @mariazanti.bsky.social and Denise O'Mahony at the Biostatistics Unit of the Cyprus Institute of Neurology and Genetics

4/💡The results:

We provide strong or moderate evidence for variant classification of hundreds of previously uncertain BRCA1/2 variants. This evidence was also highly consistent with existing ClinVar classifications — adding confidence and clinical value.

3/ 🧬 We conducted a large-scale case-control analysis of:
🧬11,207 BRCA1/2 variants
🧬6,909 coding variants
🧬 787 previously unclassified variants
🔗 Created a browser to view the results: biostatunitcing.shinyapps.io/ccLRbrowser/

2/ 🧠Why does this matter? BRCA1/2 variants are key indicators of hereditary breast & ovarian cancer risk. Many variants are still classified as VUS (Variants of Uncertain Significance) — which creates uncertainty in clinical decision-making. We aimed to help.

1/🧬 Excited to share our latest paper in Nature Communications @natcomms.nature.com. We analyzed germline sequencing data from 400,000+ women to strengthen how we classify BRCA1 & BRCA2 variants.
🔗 www.nature.com/articles/s41...
🧵

🔬Expression of Interest – Marie Skłodowska-Curie Postdoctoral Fellowship Application, dm for info!

📅 Important Dates:
- Expression of Interest Deadline: 30 May 2025
- MSCA Fellowship Application Deadline: 10 September 2025

#progresshappenstogether
#MarieCurieFellowship #Biostatistics #MSCA

Today is International Day of Women & Girls in Science.

Marie Curie, the first woman to win a Nobel Prize. Her contributions have left an indelible mark on the world of science & health & continue to inspire generations of scientists & innovators. 🔬 #WomenInScience #WomenInSTEM

1/3 Our manuscript describing a multi-ancenstry version of our S4 algorithm for polygenic risk model development. Performance compared with other methods using both a previously published simulated data set and data from UK Biobank/All of Us/Biobank Japan/FinnGen
doi.org/10.1101/2025...

Together with the NIHR (National Institute for Health and Care Research), the EPSRC, Health Data Research UK (HDR UK) and ADR UK (Administrative Data Research UK), we’re announcing a £10m programme which will help identify individual cancer risk 🙌

Read more 👉 cruk.ink/42q0aaY

Excited to share our latest study in
@nature.com We used a humanized-mouse ES cell model to explore the functional consequences of all possible BRCA2 missense variants. We've clinically classified >6,500 variants and >1,200 reported in ClinVar! www.nature.com/articles/s41...