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)
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
7/ The end! #Genetics #BRCA1 #BRCA2 #CancerResearch #PrecisionMedicine #NatureCommunications #ENIGMA #BCAC #CARRIERS #UKBiobank #HereditaryCancer #GenomicMedicine #Progresshappenstogether #BreastCancer #ESHG2025
May 26, 2025 at 6:56 AM
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
May 26, 2025 at 6:56 AM
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
May 26, 2025 at 6:56 AM
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.
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.
May 26, 2025 at 6:56 AM
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.
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/
🧬11,207 BRCA1/2 variants
🧬6,909 coding variants
🧬 787 previously unclassified variants
🔗 Created a browser to view the results: biostatunitcing.shinyapps.io/ccLRbrowser/
Dataset
biostatunitcing.shinyapps.io
May 26, 2025 at 6:56 AM
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/
🧬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.
May 26, 2025 at 6:56 AM
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.
