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Showing 51–100 of 191 results

Advanced filters: Author: D Gareth Evans Clear advanced filters

TIGIT can inhibit T cell activation via ligation-induced nanoclusters, independent of CD226 co-stimulation

CD226 provides a co-stimulatory signal to the T cell receptor during activation, and TIGIT is believed to inhibit this process by competing for the CD226 ligand CD155. Here authors show that ligand binding induces dense nanocluster formation by TIGIT which initiates intrinsic, CD226 independent inhibitory signals, proximal to T cell receptor signalling.

Jonathan D. Worboys
Katherine N. Vowell
Daniel M. Davis
ResearchOpen Access18 Aug 2023
Nature Communications

Volume: 14, P: 1-21
Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Nicola Whiffin
Konrad J. Karczewski
James S. Ware
Amendments and CorrectionsOpen Access02 Feb 2021
Nature Communications

Volume: 12, P: 1
Does preferential pairing occur in Secale cereale × S. montanum tetraploid hybrids?

C G D Chapman
Research01 Jun 1984
Heredity

Volume: 52, P: 317-322
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

Marc Tischkowitz
Chrystelle Colas
Marja Hietala
ResearchOpen Access12 Jun 2020
European Journal of Human Genetics

Volume: 28, P: 1387-1393
30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes

Emma R. Woodward
Kate Green
D. Gareth Evans
ResearchOpen Access06 Dec 2021
European Journal of Human Genetics

Volume: 30, P: 413-419
Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England

Nicola Flaum
Robert D. Morgan
D. Gareth R. Evans
Research10 Jul 2020
European Journal of Human Genetics

Volume: 28, P: 1541-1547
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Genome-wide analysis identifies 32 loci associated with breast cancer susceptibility, accounting for estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade.

Haoyu Zhang
Thomas U. Ahearn
Montserrat García-Closas
Research18 May 2020
Nature Genetics

Volume: 52, P: 572-581
Engineering transkingdom signalling in plants to control gene expression in rhizosphere bacteria

The root microbiota is critical for promoting crop yield. Here, the authors create a synthetic pathway for the production of the rhizopine scyllo-inosamine in Medicago truncatula and barley, and show its perception by rhizosphere bacteria for targeted regulation of bacterial gene expression.

Barney A. Geddes
Ponraj Paramasivan
Philip S. Poole
ResearchOpen Access31 Jul 2019
Nature Communications

Volume: 10, P: 1-11
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

A genome-wide association study for attention deficit/hyperactivity disorder (ADHD) identifies 12 loci and implicates neurodevelopmental pathways and conserved regions of the genome as being involved in underlying ADHD biology.

Ditte Demontis
Raymond K. Walters
Benjamin M. Neale
Research26 Nov 2018
Nature Genetics

Volume: 51, P: 63-75
Rising rural body-mass index is the main driver of the global obesity epidemic in adults

Contrary to the view that urbanization is a major driver of the global rise in obesity, the global increase in body-mass index is shown to be mostly due to increases in the body-mass indexes of rural populations.

Honor Bixby
James Bentham
Majid Ezzati
ResearchOpen Access08 May 2019
Nature

Volume: 569, P: 260-264
Empirical development of improved diagnostic criteria for neurofibromatosis 2

Michael E Baser
Jan M Friedman
D Gareth R Evans
Research29 Mar 2011
Genetics in Medicine

Volume: 13, P: 576-581
Publisher Correction: Personalized early detection and prevention of breast cancer: ENVISION consensus statement

Nora Pashayan
Antonis C. Antoniou
Martin Widschwendter
Amendments and Corrections29 Jun 2020
Nature Reviews Clinical Oncology

Volume: 17, P: 716
Polygenic risk modeling for prediction of epithelial ovarian cancer risk

Eileen O. Dareng
Jonathan P. Tyrer
Paul D. P. Pharoah
ResearchOpen Access14 Jan 2022
European Journal of Human Genetics

Volume: 30, P: 349-362
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Over 170 susceptibility loci have been identified by genome-wide association studies in breast cancer. Here, the authors interrogated the role of risk-associated variants from non-breast tissue, and using expression quantitative trait loci, identify potential target genes of known breast cancer susceptibility variants, as well as 11 regions not previously known to be associated with breast cancer risk.

Manuel A. Ferreira
Eric R. Gamazon
Georgia Chenevix-Trench
ResearchOpen Access15 Apr 2019
Nature Communications

Volume: 10, P: 1-18
Role of Engrailed-2 (EN2) as a prostate cancer detection biomarker in genetically high risk men

Emma Killick
Richard Morgan
Hardev Pandha
ResearchOpen Access24 Jun 2013
Scientific Reports

Volume: 3, P: 1-5
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Daniel R. Barnes
Matti A. Rookus
Antonis C. Antoniou
ResearchOpen Access15 Jul 2020
Genetics in Medicine

Volume: 22, P: 1653-1666
Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

Yael Laitman
Bing-Jian Feng
Eitan Friedman
Research04 Jul 2012
European Journal of Human Genetics

Volume: 21, P: 212-216
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype–phenotype correlation

Shay Ben-Shachar
Shlomi Constantini
Susan M Huson
Research10 Oct 2012
European Journal of Human Genetics

Volume: 21, P: 535-539
Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989

D Gareth R Evans
Catherine O'Hara
Susan M Huson
Research22 Jun 2011
European Journal of Human Genetics

Volume: 19, P: 1187-1191
Penetrance estimates of hereditary cancers in a population setting using UK Biobank data

Ranjit Manchanda
D. Gareth Evans
Adam Brentnall
ResearchOpen Access15 Mar 2024
BJC Reports

Volume: 2, P: 1-2
Menopausal symptoms and bone health in women undertaking risk reducing bilateral salpingo-oophorectomy: significant bone health issues in those not taking HRT

J Challberg
L Ashcroft
D G Evans
ResearchOpen Access07 Jun 2011
British Journal of Cancer

Volume: 105, P: 22-27
Mechanisms of Disease: prediction and prevention of breast cancer—cellular and molecular interactions

Breast cancer is a multifactorial condition, and changes in cellular biology are affected by a large number of variables known to affect an individual's susceptibility to this malignancy. Current risk prediction models are based on combinations of risk factors and have good predictive but low discriminatory power. Risk estimation might be improved by incorporating additional factors into risk prediction models, which will allow better determination of breast cancer risk and provide new targets for preventive therapies.

Anthony Howell
Andrew H Sims
Robert B Clarke
Reviews01 Dec 2005
Nature Clinical Practice Oncology

Volume: 2, P: 635-646
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Copy number variants (CNVs) account for a major proportion of human genetic diversity and may contribute to genetic susceptibility to disease. Here, a large, genome-wide study of association between common CNVs and eight common human diseases is presented. The study provides a wealth of technical insights that will inform future study design and analysis. The results also indicate that common CNVs that can be 'typed' on existing platforms are unlikely to contribute much to the genetic basis of common diseases.

Nick Craddock
Matthew E. Hurles
Peter Donnelly
Research01 Apr 2010
Nature

Volume: 464, P: 713-720
Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing

D. Gareth Evans
Andrew T. King
Miriam J. Smith
Research07 Dec 2018
Genetics in Medicine

Volume: 21, P: 1525-1533
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2

Douglas Easton and colleagues report results of a large multistage genome-wide association study of breast cancer. The study identifies two new breast cancer risk loci on chromosomes 3p24 and 17q23.2.

Shahana Ahmed
Gilles Thomas
Douglas F Easton
Research29 Mar 2009
Nature Genetics

Volume: 41, P: 585-590
Sensitivity and specificity of blood-fluid levels for oral anticoagulant-associated intracerebral haemorrhage

Abeer Almarzouki
Duncan Wilson
David J. Werring
ResearchOpen Access23 Sept 2020
Scientific Reports

Volume: 10, P: 1-11
Prevalence and architecture of de novo mutations in developmental disorders

Whole-exome analysis of individuals with developmental disorders shows that de novo mutations can equally cause loss or altered protein function, but that most mutations causing altered protein function have not yet been described.

Jeremy F. McRae
Stephen Clayton
Matthew E. Hurles
Research25 Jan 2017
Nature

Volume: 542, P: 433-438
CHD3 helicase ___domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with macrocephaly and speech and language impairment.

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
ResearchOpen Access05 Nov 2018
Nature Communications

Volume: 9, P: 1-12
Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

Thierry Frebourg
Svetlana Bajalica Lagercrantz
Marja Hietala
ResearchOpen Access26 May 2020
European Journal of Human Genetics

Volume: 28, P: 1379-1386
Germline BRCA1/2 status and chemotherapy response score in high-grade serous ovarian cancer

Robert D. Morgan
Xin Wang
Stephen S. Taylor
ResearchOpen Access16 Nov 2024
British Journal of Cancer

Volume: 131, P: 1919-1927
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

D. Gareth Evans
Claire L. Hartley
Miriam J. Smith
Research05 Jul 2019
Genetics in Medicine

Volume: 22, P: 53-59
Uptake of risk-reducing salpingo-oophorectomy in women carrying a BRCA1 or BRCA2 mutation: evidence for lower uptake in women affected by breast cancer and older women

L Sidon
S Ingham
D G R Evans
ResearchOpen Access20 Dec 2011
British Journal of Cancer

Volume: 106, P: 775-779
Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma

D. Gareth Evans
Ludwine M. Messiaen
Miriam J. Smith
ResearchOpen Access20 Apr 2021
Genetics in Medicine

Volume: 23, P: 1779-1782
Genome-wide association study identifies five new breast cancer susceptibility loci

Douglas Easton and colleagues report a genome-wide association study for breast cancer, identifying five new susceptibility loci.

Clare Turnbull
Shahana Ahmed
Douglas F Easton
Research09 May 2010
Nature Genetics

Volume: 42, P: 504-507
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

Ian Tomlinson, Richard Houlston, Malcolm Dunlop and colleagues report results of a large genome-wide association study of colorectal cancer. They identify four new risk loci and suggest that many more loci of similar effect size are likely to exist.

Richard S Houlston
Jeremy Cheadle
Ian P M Tomlinson
Research24 Oct 2010
Nature Genetics

Volume: 42, P: 973-977
A descriptive study of UK cancer genetics services: an emerging clinical response to the new genetics

D Wonderling
P Hopwood
K McPherson
ResearchOpen Access17 Jul 2001
British Journal of Cancer

Volume: 85, P: 166-170
Germline RAD51C mutations confer susceptibility to ovarian cancer

Chey Loveday
Clare Turnbull
Nazneen Rahman
Correspondence26 Apr 2012
Nature Genetics

Volume: 44, P: 475-476
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Amendments and Corrections17 Jul 2020
Nature

Volume: 584, P: E2
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

The risk of germline copy number variants (CNVs) in BRCA1 and BRCA2 pathogenic variant carriers in breast cancer is assessed, with CNVs overlapping SULT1A1 decreasing breast cancer risk in BRCA1 carriers.

Christopher Hakkaart
John F. Pearson
Logan C. Walker
ResearchOpen Access06 Oct 2022
Communications Biology

Volume: 5, P: 1-15
Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication

D. Gareth Evans
Maria Edwards
Marc Tischkowitz
ResearchOpen Access25 Nov 2019
British Journal of Cancer

Volume: 122, P: 329-332
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

Ian PM Tomlinson
Emily Webb
Richard S Houlston
Research30 Mar 2008
Nature Genetics

Volume: 40, P: 623-630
Personalized early detection and prevention of breast cancer: ENVISION consensus statement

Risk-adapted approaches to breast cancer prevention and screening could potentially be more effective than universal approaches, which have important limitations. In this Consensus Statement, representatives of the European Collaborative on Personalized Early Detection and Prevention of Breast Cancer (ENVISION) discuss the current state of breast cancer risk prediction, risk-stratified prevention and early detection strategies, and their implementation. They also present the ENVISION recommendations on priorities for future research in each of these areas with the aim of stimulating and guiding risk-adapted breast cancer prevention and screening programmes.

Nora Pashayan
Antonis C. Antoniou
Martin Widschwendter
ReviewsOpen Access18 Jun 2020
Nature Reviews Clinical Oncology

Volume: 17, P: 687-705
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Rare truncating mutations in the p53-inducible protein phosphatase PPM1D are shown to be associated with predisposition to breast cancer and ovarian cancer; notably, all of the mutations are mosaic in white blood cells but are not present in tumours, and probably have a gain-of-function effect.

Elise Ruark
Katie Snape
Nazneen Rahman
Research16 Dec 2012
Nature

Volume: 493, P: 406-410
Psychological impact of providing women with personalised 10-year breast cancer risk estimates

David P. French
Jake Southworth
Louise S. Donnelly
ResearchOpen Access08 May 2018
British Journal of Cancer

Volume: 118, P: 1648-1657
Germline mutations in RAD51D confer susceptibility to ovarian cancer

Nazneen Rahman and colleagues show that germline inactivating mutations in RAD51D confer susceptibility to ovarian cancer. They further show that RAD51D-deficient cells are sensitive to PARP inhibition, suggesting a possible strategy for treating cancers arising in RAD51D mutation carriers.

Chey Loveday
Clare Turnbull
Nazneen Rahman
Research07 Aug 2011
Nature Genetics

Volume: 43, P: 879-882
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population

Fergus Couch and colleagues report a genome-wide association study for modifiers of breast cancer susceptibility in BRCA1 mutation carriers. They identify a locus at 19p13 associated with breast cancer risk in BRCA1 mutation carriers, and further replication studies identify this locus as associated with estrogen receptor–negative breast cancer in the general population.

Antonis C Antoniou
Xianshu Wang
Fergus J Couch
Research19 Sept 2010
Nature Genetics

Volume: 42, P: 885-892
Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome

Binnaz Yasar
Helen J Byers
D Gareth Evans
Research27 Aug 2014
European Journal of Human Genetics

Volume: 23, P: 708-710
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Gisella Figlioli
Massimo Bogliolo
Paolo Peterlongo
ResearchOpen Access01 Nov 2019
npj Breast Cancer

Volume: 5, P: 1-14
Author Correction: CHD3 helicase ___domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
Amendments and CorrectionsOpen Access15 Feb 2019
Nature Communications

Volume: 10, P: 1-4
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Frank Qian
Matti A. Rookus
Dezheng Huo
ResearchOpen Access19 Jun 2019
British Journal of Cancer

Volume: 121, P: 180-192

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