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clare-turnbull.bsky.social

@clare-turnbull.bsky.social
149 followers 229 following 4 posts
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Reposted by @clare-turnbull.bsky.social
Annals of Human Genetics @ahgeditor.bsky.social · 23/07/2025
An Early View: A new review by Prof Hodgson, Prof Foulkes, Prof Maher, and Prof @clare-turnbull.bsky.social traces the evolving landscape of inherited #cancer susceptibility, from tumor suppressor genes to polygenic risk scores. It highlights how genomic tools are reshaping treatment and detection.
onlinelibrary.wiley.com
Inherited Susceptibility to Cancer: Past, Present and Future
Germline pathogenic variants (GPVs, ‘mutations’) causing inherited susceptibility to certain cancers (cancer susceptibility genes, CSGs) broadly belong to one of two main classes—loss of function var...
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Reposted by @clare-turnbull.bsky.social
The American Journal of Human Genetics @ajhgnews.bsky.social · 10/09/2025
📣New from @clare-turnbull.bsky.social & co! 📄Availability of benign missense variant “truthsets” for validation of functional assays: Current status and a systematic approach
cell.com
Availability of benign missense variant “truthsets” for validation of functional assays: Current status and a systematic approach
Quantification of applicable evidence strength for experimental functional assays requires truthsets including missense variants. Examples of benign missense variants with high-confidence ClinVar clas...
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clare-turnbull.bsky.social @clare-turnbull.bsky.social · 04/01/2026
"Media coverage and PATHFINDER2: hype, simplification, and free advertising". Commentary on new GRAIL Galleri study published in: @thelancetoncol.bsky.social thelancet.com/journals/lan... From @mgtmccartney.bsky.social @paulpharoah.bsky.social, Sullivan,Houlston,Aggarwal,Schuh,Hogarth,Callister
thelancet.com
Media coverage and PATHFINDER2: hype, simplification, and free advertising
The recent media coverage of interim results from the PATHFINDER2 study of GRAIL's Galleri multicancer detection blood test exemplifies a troubling and recurring trend in science communication: the co...
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clare-turnbull.bsky.social @clare-turnbull.bsky.social · 06/06/2025
See our new paper in @ajhgnews.bsky.social : Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists Explores blocks to implementing MAVE data into clinical variant interpretation ‪@varianteffect.bsky.social‬ authors.elsevier.com/a/1lDFkgeXDyy6
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clare-turnbull.bsky.social @clare-turnbull.bsky.social · 31/01/2025
Very honoured. Our paper was voted seventh in the annual top ten for the @bjgp.bsky.social. Working in clinical cancer genetics, we wanted to provide information for women with a family history of breast cancer regarding additional BC risk presented by taking HRT (who are often warned off).
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Reposted by @clare-turnbull.bsky.social
Farrukh @implausibleblog.bsky.social · 31/01/2025
On the fifth anniversary of Brexit, 2016: We'd be better off with Brexit 2016: The sun has risen on an independent UK 2023: Brexit has failed 2023: We were more competitive in the EU 2024: Our democracy feels dead End this economic self harm, rejoin the EU
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Reposted by @clare-turnbull.bsky.social
Farrukh @implausibleblog.bsky.social · 27/01/2025
2025: Emily Thornberry wonders whether the EU wants the UK to rejoin the EU, suggesting they don't 2023: "UK should rejoin EU to ‘fix’ Brexit, says Ursula von der Leyen" If you're only YouTube, give this a like and subscribe youtu.be/kNGDpw2rJQc
youtu.be
Emily Thornberry wonders if the EU wants the UK back, obviously they do
YouTube video by Implausibleblog
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Reposted by @clare-turnbull.bsky.social
The Institute of Cancer Research @icr.ac.uk · 17/01/2025
NEWS 📰 : Lynch Syndrome affects 175,000 people in England but only 5% know they have it. ICR's Professor Clare Turnbull (@clare-turnbull.bsky.social) explains the importance of routine genetic testing to prevent cancer cases. Read more ⤵️
icr.ac.uk
Genetic testing for Lynch Syndrome prevents cancers being missed
Genetic testing for Lynch Syndrome must increase to prevents cancers being missed
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Reposted by @clare-turnbull.bsky.social
Nick Knudsen @nickknudsenus.bsky.social · 24/11/2024
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Reposted by @clare-turnbull.bsky.social
Mehdi Hasan @mehdirhasan.bsky.social · 25/11/2024
Never forget how much responsibility Merrick Garland has for Donald Trump’s second presidency and total evasion of legal accountability.
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clare-turnbull.bsky.social @clare-turnbull.bsky.social · 25/11/2024
We used cancer phenotype sex-specificity to enable more unbiased penetrance estimation of SMARCA4 PVs for SCCOHT tumours in the UKBiobank cohort and observed a 62% deficit of SMARCA4 PVs in females compared to males. Just published in @GIMJournal @UKCGG
sciencedirect.com
Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is an extremely rare, highly aggressive cancer (mean age of onset, 24 years). Nearly al…
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