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Author Details

Clare Turnbull
Institute of Cancer Research
1991
126
50
PMIDPaper TitleJournal TitlePublished Year
37364803Long-term outcomes of hysterectomy with bilateral salpingo-oophorectomy: a systematic review and meta-analysis.Am J Obstet Gynecol2024
35260474UK recommendations for <i>SDHA</i> germline genetic testing and surveillance in clinical practice.J Med Genet2023
37178708Utility of polygenic risk scores in UK cancer screening: a modelling analysis.Lancet Oncol2023
37031776Sebaceous carcinoma epidemiology, associated malignancies and Lynch/Muir-Torre syndrome screening in England from 2008 to 2018.J Am Acad Dermatol2023
36854461Realistic expectations are key to realising the benefits of polygenic scores.BMJ2023
36744544Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group.Br J Haematol2023
36572524Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.J Med Genet2023
36765408Risks of second non-breast primaries following breast cancer in women: a systematic review and meta-analysis.Breast Cancer Res2023
34740923Pan-cancer Analysis of Homologous Recombination Repair-associated Gene Alterations and Genome-wide Loss-of-Heterozygosity Score.Clin Cancer Res2022
35805038Predominance of <i>BRCA2</i> Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with <i>BRCA1</i> or <i>BRCA2</i> Mutation.Cancers (Basel)2022
35700037Association Study between Polymorphisms in DNA Methylation-Related Genes and Testicular Germ Cell Tumor Risk.Cancer Epidemiol Biomarkers Prev2022
35460607Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.Am J Hum Genet2022
35715636Talking about Risk, UncertaintieS of Testing IN Genetics (TRUSTING): development and evaluation of an educational programme for healthcare professionals about BRCA1 &amp; BRCA2 testing.Br J Cancer2022
35657381Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).Genet Med2022
35868849A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot.J Med Genet2022
36115878Risk of developing a second primary cancer in male breast cancer survivors: a systematic review and meta-analysis.Br J Cancer2022
34906457Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.Genet Med2022
32855306Prioritisation by FIT to mitigate the impact of delays in the 2-week wait colorectal cancer referral pathway during the COVID-19 pandemic: a UK modelling study.Gut2021
33737296Genetically Inferred Telomere Length and Testicular Germ Cell Tumor Risk.Cancer Epidemiol Biomarkers Prev2021
33558336Germline and Somatic Genetic Variants in the p53 Pathway Interact to Affect Cancer Risk, Progression, and Drug Response.Cancer Res2021
33578357Clinical practice guidelines for BRCA1 and BRCA2 genetic testing.Eur J Cancer2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34021222Will polygenic risk scores for cancer ever be clinically useful?NPJ Precis Oncol2021
34230640Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.Genet Med2021
33222309Tumor-only sequencing for oncology management: Germline-focused analysis and implications.Genes Chromosomes Cancer2021
33453764Effect of COVID-19 on colorectal cancer care in England.Lancet Gastroenterol Hepatol2021
33208383Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.J Med Genet2021
32266967Primrose syndrome: Characterization of the phenotype in 42 patients.Clin Genet2020
31949161A network analysis to identify mediators of germline-driven differences in breast cancer prognosis.Nat Commun2020
32107557Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.J Natl Cancer Inst2020
33203640Estimated impact of the COVID-19 pandemic on cancer services and excess 1-year mortality in people with cancer and multimorbidity: near real-time data on cancer care, cancer deaths and a population-based cohort study.BMJ Open2020
32742705Weekly COVID-19 testing with household quarantine and contact tracing is feasible and would probably end the epidemic.R Soc Open Sci2020
32601456Publisher Correction: Personalized early detection and prevention of breast cancer: ENVISION consensus statement.Nat Rev Clin Oncol2020
32620889Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers.Nat Commun2020
32702311Effect of delays in the 2-week-wait cancer referral pathway during the COVID-19 pandemic on cancer survival in the UK: a modelling study.Lancet Oncol2020
32668122Etiologic Index - A Case-Only Measure of <i>BRCA1/2</i>-Associated Cancer Risk.N Engl J Med2020
32366847Genomic landscape of platinum resistant and sensitive testicular cancers.Nat Commun2020
32555420Personalized early detection and prevention of breast cancer: ENVISION consensus statement.Nat Rev Clin Oncol2020
32152486Peridiagnostic and cascade cancer genetic testing.Nat Rev Clin Oncol2020
32442581Collateral damage: the impact on outcomes from cancer surgery of the COVID-19 pandemic.Ann Oncol2020
30586678Rapid reversal of clinical down-classification of a BRCA1 splicing variant avoiding psychological harm.Clin Genet2019
31748747Genetic predisposition to mosaic Y chromosome loss in blood.Nature2019
31018999Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs).J Med Genet2019
30962250Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.J Med Genet2019
30542102Publisher Correction: Cancer genetics, precision prevention and a call to action.Nat Genet2019
30670737Mendelian randomization provides support for obesity as a risk factor for meningioma.Sci Rep2019
29256490Testicular cancer in 2017: Sequencing advances understanding.Nat Rev Urol2018
29935977Large-scale Analysis Demonstrates Familial Testicular Cancer to have Polygenic Aetiology.Eur Urol2018
30032180Response to Letter to the Editor: "p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer".J Clin Endocrinol Metab2018
29618007Subphenotype meta-analysis of testicular cancer genome-wide association study data suggests a role for RBFOX family genes in cryptorchidism susceptibility.Hum Reprod2018
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Collaborators

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Co-authored papers 18
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Co-authored papers 15
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University of Toronto
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The Kolling Institute, University of Sydney, and Royal North Shore Hospital
Co-authored papers 14
The Usher Institute, The University of Edinburgh
Co-authored papers 14
Otto-Friedrich-University Bamberg
Co-authored papers 14
University of California irvine
Co-authored papers 13
Pomeranian Medical University
Co-authored papers 13
Co-authored papers 13
University of Southern California
Co-authored papers 12
Ospedale Circolo e Fondazione Macchi
Co-authored papers 12
Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine
Co-authored papers 12
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Perelman School of Medicine, University of Pennsylvania, USA Abramson Cancer Center
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UCSF Helen Diller Family Comprehensive Cancer Center
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The Institute of Cancer Research
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