Kyriaki Michailidou
@kmichailidou.bsky.social
Associate Professor and Head of the Department of Biostatistics at the Cyprus Institute of Neurology and Genetics (https://www.cing.ac.cy/en/about-us/biostatistics)
Today, DISARM is proud to launch our Citizen Awareness Campaign to make reliable, accessible information about ovarian cancer symptoms & hereditary risk easier to understand and act on. 💻 Read the full press release here: disarm-project.eu/2026/09/01/d... #HaDEA #CancerMission
📣CanRisk v.3 for breast and ovarian cancer risk prediction released today www.canrisk.org Includes 1️⃣ Adaptations to the U.K. ethnically diverse population: Pre-print: doi.org/10.1101/2025... 2️⃣ Continuous measures of mammographic density: Pre-print: doi.org/10.1101/2025...
Also! We'd love your help in promoting this event in the #Australia #Australasia region! Topics and programming will be of interest to the #FunctionalGenomics #Genomics #Clinical #Research #Community ℹ️https://www.mss2026.org
MSS26
Mutational Scanning Symposium 2026, 25-27 March, Melbourne
mss2026.org
Lara Muffley@muffley.bsky.social · 10mo ago#VariantEffect26 will be in Melbourne Australia! 🐨 Note that there will be a computational modeling and a clinical variant interpretation workshop!! Discounted tickets available for participants from LMICs. More info and to register www.mss2026.org
Come to Edinburgh to study genomics and human disease! We are recruiting to our 4 year PhD programme - closing date 11th January 2026 institute-genetics-cancer.ed.ac.uk/igc-graduate...
MRC four-year International PhD programme: Human Genetics, Genomics and Disease | IGC Graduate Research & Training | Institute of Genetics and Cancer
Applications now open.
institute-genetics-cancer.ed.ac.uk
@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
Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk
Germline pathogenic BRCA1 variants predispose women to breast and ovarian cancer. Despite accumulation of functional evidence for variants in BRCA1 , over half of reported single-nucleotide variants (...
medrxiv.org
🔬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
Kyriaki Michailidou@kmichailidou.bsky.social · last yr.5/👩🔬Let by amazing @mariazanti.bsky.social and Denise O'Mahony at the Biostatistics Unit of the Cyprus Institute of Neurology and Genetics
Cyprus-led team makes breast, ovarian cancer breakthrough
Cyprus-led team makes breast, ovarian cancer breakthrough
cyprus-mail.com
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...
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification - Nature Communications
BRCA1 and BRCA2 are well known breast cancer predisposition genes, however, many variants have not yet been classified for their pathogenicity. Here, the authors analyse a large combined cohort to pro...
doi.org
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... 🧵
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification - Nature Communications
BRCA1 and BRCA2 are well known breast cancer predisposition genes, however, many variants have not yet been classified for their pathogenicity. Here, the authors analyse a large combined cohort to pro...
nature.com
🔬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...
S4-Multi: enhancing polygenic score prediction in ancestrally diverse populations
While polygenic scores (PGSs) have shown promise in advancing precision medicine by capturing the additive effects of common germline variants on inherited disease risk, they are presently limited by ...
doi.org
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
£10m funding for new programme to help identify individual cancer risk - Cancer Research UK - Cancer News
Today, Cancer Research UK, the NIHR and the EPSRC are announcing £10 million to create the Cancer Data-Driven Detection programme
cruk.ink
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...
Saturation genome editing-based clinical classification of BRCA2 variants - Nature
CRISPR–Cas9-based saturation genome editing in a humanized mouse embryonic stem cell line was used for comprehensive functional characterization of single nucleotide variants in a region of BRCA2, and...
nature.com
