Kyriaki Michailidou
@kmichailidou.bsky.social
Associate Professor at the Biostatistics Unit of the Cyprus Institute of Neurology and Genetics (https://www.cing.ac.cy/en/about-us/biostatistics_unit)
October 29, 2025 at 9:56 PM
Reposted by Kyriaki Michailidou
@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
August 18, 2025 at 7:33 AM
@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
Reposted by Kyriaki Michailidou
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
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 (...
www.medrxiv.org
August 18, 2025 at 7:33 AM
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
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
Reposted by Kyriaki Michailidou
🔬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
@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
5/👩🔬Let by amazing @mariazanti.bsky.social and Denise O'Mahony at the Biostatistics Unit of the Cyprus Institute of Neurology and Genetics
May 27, 2025 at 12:27 PM
🔬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
@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
Reposted by Kyriaki Michailidou
Cyprus-led team makes breast, ovarian cancer breakthrough
Cyprus-led team makes breast, ovarian cancer breakthrough
cyprus-mail.com
June 24, 2025 at 1:18 PM
Cyprus-led team makes breast, ovarian cancer breakthrough
June 20, 2025 at 12:27 PM
Reposted by Kyriaki Michailidou
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
@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
June 11, 2025 at 3:12 PM
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
@uoe-igc.bsky.social
doi.org/10.1038/s414...
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...
🧵
🔗 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...
www.nature.com
May 26, 2025 at 6:56 AM
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...
🧵
🔗 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
📅 Important Dates:
- Expression of Interest Deadline: 30 May 2025
- MSCA Fellowship Application Deadline: 10 September 2025
#progresshappenstogether
#MarieCurieFellowship #Biostatistics #MSCA
May 12, 2025 at 12:12 PM
🔬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
📅 Important Dates:
- Expression of Interest Deadline: 30 May 2025
- MSCA Fellowship Application Deadline: 10 September 2025
#progresshappenstogether
#MarieCurieFellowship #Biostatistics #MSCA
Reposted by Kyriaki Michailidou
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
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
February 11, 2025 at 7:52 AM
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
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
Reposted by Kyriaki Michailidou
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...
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
January 28, 2025 at 9:44 AM
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...
doi.org/10.1101/2025...
Reposted by Kyriaki Michailidou
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
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
January 22, 2025 at 10:02 AM
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
Read more 👉 cruk.ink/42q0aaY
Reposted by Kyriaki Michailidou
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...
@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...
www.nature.com
January 9, 2025 at 1:52 AM
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...
@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...