Clare Turnbull - Section of Cancer Genetics, the Institute of Cancer Research

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Bio

Clare is Professor of Translational Cancer Genetics at the Institute of Cancer Research. Her research spans statistical, population and public-health-related analyses of genetic cancer susceptibility and implementation of expanded genomic testing, with particular focus on breast, ovarian and testicular cancers. She is also a consultant in Public Health Medicine at PHE (Honorary) and a consultant in Clinical Cancer Genetics at the Royal Marsden Hospital.

Research Interests

Papers共 238 篇Author StatisticsCo-AuthorSimilar Experts

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Long-term Outcomes of Bilateral Salpingo-Oophorectomy in Women with Personal History of Breast Cancer

Hend Hassan,Tameera Rahman,Andrew Bacon,Craig Knott,Isaac Allen,Catherine Huntley,Lucy Loong,Yvonne Walburga,Eva Morris,Steven Hardy,Bethany Torr,Diana M Eccles,Clare Turnbull,Marc Tischkowitz,Paul Pharoah,Antonis C Antoniou

BMJ oncologyno. 1 (2025): e000574-e000574

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Using Cancer Phenotype Sex-Specificity to Enable Unbiased Penetrance Estimation of SMARCA4 Pathogenic Variants for Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT)

Isaac Wade,Leora Witkowski, Afrida Ahmed,Charlie F. Rowlands,Susana Banerjee,Joseph G. Pressey,Terri P. Mcveigh,Marc D. Tischkowitz,William D. Foulkes,Clare Turnbull

GENETICS IN MEDICINE（2025）

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Breast Cancer Germline Multigene Panel Testing in Mainstream Oncology Based on Clinical-Public Health Utility: ESMO Precision Oncology Working Group Recommendations

C Turnbull,M I Achatz,J Balmaña,E Castro,G Curigliano,C Cybulski, S M Domchek,D G Evans,H Hanson,N Hoogerbrugge,P A James, A Krause,K L Nathanson,J Ngeow Yuen Yie,M Robson,M Tischkowitz,B Westphalen,W D Foulkes

Annals of oncology official journal of the European Society for Medical Oncology (2025)

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Meta-analysis of Germline Whole-exome Sequencing in 1435 Cases of Testicular Germ Cell Tumour to Evaluate Disruptive Mutations under Dominant, Recessive, and X-linked Inheritance Models

Zeid Kuzbari,Charlie F Rowlands, Isaac Wade,Alice Garrett,Chey Loveday,Subin Choi,Beth Torr,Kevin Litchfield,Alison Reid,Robert Huddart,Peter Broderick,Richard S Houlston,Clare Turnbull

European urology open science (2025): 51-59

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Uptake, Utility and Resource Requirements of a Genetic Counselling Telephone Helpline Within the BRCA-DIRECT Digital Pathway for Mainstreamed BRCA Testing in Patients with Breast Cancer

Bethany Torr,Grace Kavanaugh,Monica Hamill, Christopher Jones,Helena Harder, Sophie Allen,Alice Garrett, Subin Choi,Rosalind Way,Rochelle Gold, Amy Taylor,Rhian Gabe,Anneke Lucassen,Ranjit Manchanda,Angela George, Michael Hubank,Stephen Bremner,Ashu Gandhi,Zoe Kemp,D Gareth Evans,Lesley Fallowfield,Valerie Jenkins,Clare Turnbull

Journal of medical geneticsno. 5 (2025): 317-325

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Combining Multiplexed Functional Data to Improve Variant Classification

Jeffrey D Calhoun, Moez Dawood, Charlie F Rowlands, Shawn Fayer, Elizabeth J Radford,Abbye E McEwen,Clare Turnbull,Amanda B Spurdle,Lea M Starita, Sujatha Jagannathan

ArXiv (2025)

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Rare Disease Gene Association Discovery in the 100,000 Genomes Project

Valentina Cipriani,Letizia Vestito,Emma F Magavern,Julius O B Jacobsen,Gavin Arno,Elijah R Behr,Katherine A Benson,Marta Bertoli,Detlef Bockenhauer,Michael R Bowl,Kate Burley,Li F Chan,Patrick Chinnery,Peter J Conlon, Marcos A Costa,Alice E Davidson,Sally J Dawson,Elhussein A E Elhassan,Sarah E Flanagan,Marta Futema,Daniel P Gale,Sonia García-Ruiz, Cecilia Gonzalez Corcia, Helen R Griffin,Sophie Hambleton,Amy R Hicks,Henry Houlden,Richard S Houlston,Sarah A Howles,Robert Kleta, Iris Lekkerkerker,Siying Lin,Petra Liskova, Hannah H Mitchison,Heba Morsy,Andrew D Mumford,William G Newman,Ruxandra Neatu,Edel A O'Toole,Albert C M Ong,Alistair T Pagnamenta,Shamima Rahman,Neil Rajan,Peter N Robinson,Mina Ryten,Omid Sadeghi-Alavijeh,John A Sayer,Claire L Shovlin,Jenny C Taylor,Omri Teltsh,Ian Tomlinson,Arianna Tucci,Clare Turnbull,Albertien M van Eerde,James S Ware,Laura M Watts,Andrew R Webster,Sarah K Westbury,Sean L Zheng,Mark Caulfield,Damian Smedley

Nature (2025)

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Long-term Health Outcomes of Bilateral Salpingo-Oophorectomy in BRCA1 and BRCA2 Pathogenic Variant Carriers with Personal History of Breast Cancer: a Retrospective Cohort Study Using Linked Electronic Health Records

Hend Hassan, Isaac Allen, Tameera Rahman, Sophie Allen,Craig Knott,Catherine Huntley, Lucy Loong,Alice Garrett, Yvonne Walburga,Eva Morris, Steven Hardy,Bethany Torr, Fiona McRonald,Sally Vernon,Margreet Lüchtenborg,Joanna Pethick,Francesco Santaniello, Shilpi Goel, Diana M Eccles,Clare Turnbull,Marc Tischkowitz,Paul Pharoah, Antonis C Antoniou

The Lancet Oncologyno. 6 (2025): 771-780

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Validating Data from Multiplex Assays of Variant Effect: A CanVIG-UK National Survey of NHS Clinical Scientists

Sophie Allen,Alice Garrett,Charlie F Rowlands,Miranda Durkie,George J Burghel,Rachel Robinson,Alison Callaway,Joanne Field, Bethan Frugtniet,Sheila Palmer-Smith, Jonathan Grant,Judith Pagan,Trudi McDevitt,Katie Snape,Helen Hanson,Terri McVeigh,David J Adams,Gregory M Findlay, Rehan M Villani,Amanda B Spurdle,Clare Turnbull, CanVIG-UK Consortium

American journal of human geneticsno. 6 (2025): 1479-1488

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Classification of Variants of Reduced Penetrance in High Penetrance Cancer Susceptibility Genes: Framework for Genetics Clinicians and Clinical Scientists by CanVIG-UK (cancer Variant Interpretation Group-UK)

Alice Garrett,Sophie Allen,Miranda Durkie,George J. Burghel,Rachel Robinson,Alison Callaway,Joanne Field, Bethan Frugtniet,Sheila Palmer-Smith, Jonathan Grant,Judith Pagan,Trudi Mcdevitt,Charlie F. Rowlands,Terri Mcveigh,Helen Hanson,Clare Turnbull

GENETICS IN MEDICINE（2025）

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