Antonis Antoniou

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...

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...
🧵

Comparison of supplemental breast cancer imaging techniques—interim results from the BRAID randomised controlled trial Abbreviated MRI and contrast-enhanced mammography detected three times as many invasive cancers compared with ABUS, with cancers being half the size. This study shows that supplemental imaging could l...

Just published in The Lancet, interim results from the BRAID randomised trial of supplemental breast imaging for women with dense breast tissue.
Read the open access Article here 👉 www.thelancet.com/journals/lan...
@thelancet.com

This thread reminded me of the work of my late father as a medic and epidemiologist in Papua New Guinea in the 1960's. In the highlands of PNG endemic goitre was very common and in some remote valleys endemic cretinism was also common. The Jimi Valley was one such area. 1/n

Are you a new PhD interested in cardiovascular disease, big data, cohorts, or multi-omics? Join our Cardiovascular Epidemiology Unit at the University of Cambridge for a British Heart Foundation-funded postdoctoral position. Open to those not currently in the CVD field. 🔗: buff.ly/R7YJvfl

This research, published in the @thelancet.bsky.social Oncology, was led by Hend Hassan, a PhD student at the Centre for @ccge-cambridge.bsky.social @dphpc.bsky.social.

Read more: crukcambridgecentre.org.uk/news/removin...

Online first: Long-term health outcomes of bilateral salpingo-oophorectomy in BRCA1 and BRCA2 pathogenic variant carriers with personal history of #breastcancer: a retrospective cohort study using linked electronic health records

www.thelancet.com/journals/lan...

Yes v important question! Unfortunately the linked prescriptions dataset was only available from 2015 onwards and in fact there was a very small number of carriers who received hrt. The numbers did not allow for adjustments in the analysis or for stratified analysis by hrt.

Removing ovaries and fallopian tubes linked to lower risk of early death among certain breast cancer patients Women diagnosed with breast cancer who carry particular BRCA1 and BRCA2 genetic variants are offered surgery to remove the ovaries and fallopian tubes as this

See also:
🗞️ Press release: www.cam.ac.uk/research/new...

🖊️ Editorial: www.thelancet.com/journals/lan...

Great team effort across @dphpc.bsky.social, @cambridgeuni.bsky.social @crukcamcentre.bsky.social the CanGene-CanVar programme, NHS England’s National Disease Registration Service. Huge thanks to all involved. Funded by @cancerresearchuk.org

Based on linking national cancer registry, hospital records, and genetic testing data — a major step forward in evaluating preventive surgery in high-risk groups.

✅ Key findings:
• BSO associated with lower all-cause & breast cancer-specific mortality
• No increased risk for CVD, ischaemic heart disease, cerebrovascular disease, or depression
• Lower uptake of BSO among Black & Asian women → highlighting disparities in access/decision-making

📢 New publication from the group in @thelancetoncol.bsky.social led by Hend Hasan for her PhD, we used linked EHR + genetic testing data to study 3,400+ BRCA1/2 carriers with history of breast cancer. What happens long-term after BSO?

📄 Paper: www.thelancet.com/journals/lan...
🧵

Only 10 days left to apply for these positions👇

New national gateway to health data will drive health solutions of the future - Novo Nordisk Fonden

After UK, Denmark announces a national gateway to access health data

novonordiskfonden.dk/en/news/new-...

This study is a big deal. Is it going to be the one that kicks down the PRS door? Maybe. And that’s saying something.

Assessment of a Polygenic Risk Score in Screening for Prostate Cancer www.nejm.org/doi/full/10....

📣📣 New postdoc in biomedical data science available in our lab!! www.jobs.cam.ac.uk/job/50966/

Flexible funding - many research areas in scope + ideas welcome

Check out our group www.inouyelab.org/home

And the awesome Cambridge research environment! @vpd-hlri.bsky.social @uniofcam.bsky.social

Prime Minister turbocharges medical research Better and faster access to NHS data for researchers with gold standard security and privacy measures.

[1/5] We welcome today’s Government announcement of the creation of a Health Data Research Service. This is a vital step towards enabling cancer researchers to access the right data at the right time, improving outcomes for patients ⏱️🔍 www.gov.uk/government/n...

[1/5] Getting the right data at the right time is essential for researchers looking to beat cancer sooner. Using advanced data modelling and AI, the CD3 programme is a £10m commitment to understanding who is likely to get cancer and when. 🔬

However to deliver on its promise Government must:

The contribution of coding variants to the heritability of multiple cancer types using UK Biobank whole-exome sequencing data We developed a method to estimate the contribution of rare coding variants to cancer heritability and applied it to 11 cancers in the UK Biobank. Our results provide insights into the contribution of ...

CCGE researchers evaluate the contribution of gene variants to cancer risk for multiple cancer types. The results highlight several potential new susceptibility genes including the DNA repair gene NHEJ1. Follow the link below to find out more
www.cell.com/ajhg/fulltex...

C.D.C. Will Investigate Debunked Link Between Vaccines and Autism Dozens of studies have failed to find evidence of a link. The decision to re-examine the question comes as a measles outbreak, driven by low vaccination rates, widens in Texas.

“It’s been exhaustively studied.” www.nytimes.com/2025/03/07/h...

📣 Job Opportunities - Alongside our recently advertised Senior Research Programme Manager position, we now have 2 more exciting opportunities to join the Cancer Data-Driven Detection (CD3) programme

1️⃣ Research Programme Manager
shorturl.at/Cs1kg

2️⃣ Research Community Coordinator
shorturl.at/4w9Na

📣 Excited to share our new tutorial with @training.ebi.embl.org ! The course covers the basics of polygenic scores and describes the PGS Catalog resources (buff.ly/L8e6a3J, including pgsc_calc), a great overview of the area. Access the course online at buff.ly/CEBWMio!

📣 New from the lab: The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes www.nature.com/articles/s41...

Check out the INTERVAL RNAseq portal www.intervalrna.org.uk

Led by @alextokolyi.bsky.social & Elodie Persyn!

Calling all healthcare providers and researchers! Join us at #BRCA 2025, the 10th International Symposium on Hereditary Breast and Ovarian #Cancer, from May 6-9th 2025
✅Inspiring speakers
✅In-depth sessions
✅Networking opportunities
Visit www.brcasymposium.ca for more info!

📣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...

Genetics, primary care records and lifestyle factors for short-term dynamic risk prediction of colorectal cancer bmjoncology.bmj.com/content/4/1/...

Wonderful stuff from Samantha Ip, @antonis02.bsky.social , Angela Wood and co!

Read more about our recent collaborative work on multimodal dynamic risk modelling for colorectal cancer from the talented Sam Ip and Hannah Harrison. 👇

📣Vacancy alert!!!
You'll need significant planning and organisational skills to coordinate and monitor across complex projects with multiple institutions (including us). 👉Cancer Data-Drive Detection (CD3) programme is a major new national research initiative. www.jobs.cam.ac.uk/job/50376/

Hello BlueSky colleagues – this is the new official account of the Centre for Cancer Genetic Epidemiology!

Please follow us for updates and news related to our research.

📣 Exciting new opportunity to join the Cancer Data-Driven Detection (CD3) program as Senior Research Programme Manager based at @dphpc.bsky.social @cambridgeuni.bsky.social

Closing date 16 March 2025

Please repost!

More about CD3 below. 👇

www.jobs.cam.ac.uk/job/50376/