Nature Search

Whole-genome sequencing provides new insights into the clonal architecture of Barrett's esophagus and esophageal adenocarcinoma

Rebecca Fitzgerald and colleagues report whole-genome sequence analyses of 23 paired samples of Barrett's esophagus and esophageal adenocarcinoma. Their analyses of the clonal architecture of these lesions shows that copy number increases and heterogeneity persists during development of esophageal adenocarcinoma.

Caryn S Ross-Innes
Jennifer Becq
Sarah Dawson
Research20 Jul 2015
Nature Genetics

Volume: 47, P: 1038-1046
Single cell RNA-seq reveals profound transcriptional similarity between Barrett’s oesophagus and oesophageal submucosal glands

Barrett’s oesophagus is associated with an increased risk of oseophageal cancer, but its cell of origin is unclear. Here the authors show, using single-cell RNA sequencing of biopsies from six patients and two unaffected subjects, that cells in Barrett’s oesophagus show a transcriptional profile that is similar to that of cells in oesophageal submucosal glands.

Richard Peter Owen
Michael Joseph White
Xin Lu
ResearchOpen Access15 Oct 2018
Nature Communications

Volume: 9, P: 1-12
Paired exome analysis of Barrett's esophagus and adenocarcinoma

Adam Bass, Gad Getz, Scott Carter and colleagues report the whole-exome sequences of 25 pairs of esophageal adenocarcinoma and Barrett's esophagus. They identify two pathways by which Barrett's esophagus can develop into esophageal adenocarcinoma.

Matthew D Stachler
Amaro Taylor-Weiner
Adam J Bass
Research20 Jul 2015
Nature Genetics

Volume: 47, P: 1047-1055
Transcriptional analysis of tetraploid epithelial cells in Barrett's esophagus

Michael Barrett
David Pritchard
Peter Rabinovitch
Research Highlights01 Apr 2001
Nature Genetics

Volume: 27, P: 41
Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

Peter Donnelly and colleagues report a genome-wide association study for Barrett's esophagus, a common premalignant condition associated with stomach acid reflux and predisposing to esophageal adenocarcinoma. They identify two loci associated with susceptibility to Barrett's esophagus.

Zhan Su
Laura J Gay
Janusz A Z Jankowski
Research09 Sept 2012
Nature Genetics

Volume: 44, P: 1131-1136
Evolution of neoplastic cell lineages in Barrett oesophagus

Michael T. Barrett
Carissa A. Sanchez
Brian J. Reid
Research01 May 1999
Nature Genetics

Volume: 22, P: 106-109
Predictive Biomarkers of Gastroesophageal Reflux Disease and Barrett’s Esophagus in World Trade Center Exposed Firefighters: a 15 Year Longitudinal Study

Syed H. Haider
Sophia Kwon
Anna Nolan
ResearchOpen Access15 Feb 2018
Scientific Reports

Volume: 8, P: 1-7
A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus

Thomas Vaughan and colleagues report a genome-wide association study of esophageal adenocarcinoma together with its precancerous lesion, Barrett's esophagus. They identified three loci associated with susceptibility to this cancer.

David M Levine
Weronica E Ek
Thomas L Vaughan
Research13 Oct 2013
Nature Genetics

Volume: 45, P: 1487-1493
Frequent deletions of FHIT and FRA3B in Barrett's metaplasia and esophageal adenocarcinomas

Michael Dagmar
David G Beer
Thomas W Glover
Research02 Oct 1997
Oncogene

Volume: 15, P: 1653-1659
Foveolar type dysplasia in Barrett esophagus

Ian S Brown
David C Whiteman
Gregory Y Lauwers
Research12 Mar 2010
Modern Pathology

Volume: 23, P: 834-843
Ordering of mutations in preinvasive disease stages of esophageal carcinogenesis

Rebecca Fitzgerald and colleagues used genome sequence analyses to study the progression from premalignant Barrett's esophagus to esophageal adenocarcinoma (EAC) and found that the majority of recurrently mutated genes in EAC were also mutated in precursor lesions and that only mutations in TP53 and SMAD4 were stage specific.

Jamie M J Weaver
Caryn S Ross-Innes
J Robert O'Neil
Research22 Jun 2014
Nature Genetics

Volume: 46, P: 837-843
Mutational signature dynamics shaping the evolution of oesophageal adenocarcinoma

It is critical to understand what drives the progression of oesophageal adenocarcinoma (OAC) from a pre-cancerous state. Here, the authors use whole-genome sequencing to characterise the mutational processes and drivers of OAC progression from Barrett’s Oesophagus, as well as their prognostic associations.

Sujath Abbas
Oriol Pich
Maria Secrier
ResearchOpen Access15 Jul 2023
Nature Communications

Volume: 14, P: 1-16
Novel endoscopic therapeutic modalities for superficial neoplasms arising in Barrett's esophagus: a primer for surgical pathologists

Gregory Y Lauwers
David G Forcione
Mari Mino-Kenudson
Reviews13 Mar 2009
Modern Pathology

Volume: 22, P: 489-498
Inactivation of p16, RUNX3, and HPP1 occurs early in Barrett's-associated neoplastic progression and predicts progression risk

Karsten Schulmann
Anca Sterian
Stephen J Meltzer
Research11 Apr 2005
Oncogene

Volume: 24, P: 4138-4148
Comparison of 10 biometric formulas in combined phacovitrectomy for different underlying retinal pathology

Eleftherios Chatzimichail
David L. Cooke
Efstathios Vounotrypidis
ResearchOpen Access17 Apr 2025
Scientific Reports

Volume: 15, P: 1-8
Oesophageal cancer

Oesophageal cancer is the sixth most common cause of cancer-related death worldwide and comprises two major subtypes — oesophageal squamous cell carcinoma and oesophageal adenocarcinoma — which are epidemiologically and biologically distinct. In this Primer, Cunningham and colleagues describe the epidemiology, pathophysiology and management of oesophageal cancer.

Elizabeth C. Smyth
Jesper Lagergren
David Cunningham
Reviews27 Jul 2017
Nature Reviews Disease Primers

Volume: 3, P: 1-21
Evaluation of repeatability and agreement of two optical biometers for intraocular lens power calculation

Irene Martinez Alberquilla
Saga Svensson
Abinaya Priya Venkataraman
ResearchOpen Access27 Sept 2024
Scientific Reports

Volume: 14, P: 1-8
Estimation of the Multiple Testing Burden for Genomewide Association Studies of Common Variants

Itsik Pe'er
Roman Yelensky
Mark Daly
ResearchOpen Access05 Jul 2007
Nature Precedings

P: 1
Extrachromosomal DNA appears before cancer forms

A type of circular DNA called extrachromosomal DNA was thought to be found exclusively in cancer. Its discovery in non-cancerous tissue suggests that it might have an early active role in malignant transformation.

David H. Wang
News & Views12 Apr 2023
Nature

Volume: 616, P: 664-665
Modified intraocular lens power selection method according to biometric subgroups Eom IOL power calculator

Youngsub Eom
So Hyeon Bae
David L. Cooke
ResearchOpen Access20 Feb 2024
Scientific Reports

Volume: 14, P: 1-9
Integrated genomic characterization of oesophageal carcinoma

The Cancer Genome Atlas Research Network report integrated genomic and molecular analyses of 164 squamous cell carcinomas and adenocarcinomas of the oesophagus; they find genomic and molecular features that differentiate squamous and adenocarcinomas of the oesophagus, and strong similarities between oesophageal adenocarcinomas and the chromosomally unstable variant of gastric adenocarcinoma, suggesting that gastroesophageal adenocarcinoma is a single disease entity.

Jihun Kim
Reanne Bowlby
Jiashan Zhang
ResearchOpen Access04 Jan 2017
Nature

Volume: 541, P: 169-175
Accuracy of a new intraocular lens power calculation method based on artificial intelligence

David Carmona González
Carlos Palomino Bautista
Research28 Apr 2020
Eye

Volume: 35, P: 517-522
Deep cell phenotyping and spatial analysis of multiplexed imaging with TRACERx-PHLEX

Imaging dozens of proteins in situ and at large scales increases the complexity of data analysis. Here, the authors develop an end-to-end solution for multiplexed image analysis that facilitates data interpretation for clinically relevant insights.

Alastair Magness
Emma Colliver
Mihaela Angelova
ResearchOpen Access15 Jun 2024
Nature Communications

Volume: 15, P: 1-20
Integrated clinical and genomic analysis identifies driver events and molecular evolution of colitis-associated cancers

Colitis-associated cancers (CACs) develop in patients with inflammatory bowel disease and have distinct genomic features compared to sporadic colorectal cancers. Here, the authors characterize the genomic alterations of CAC tumors and dysplasia, finding decreased Wnt signaling and a lack of shared early genetic steps.

Walid K. Chatila
Henry Walch
Rona Yaeger
ResearchOpen Access07 Jan 2023
Nature Communications

Volume: 14, P: 1-13
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

The authors analyzed the whole-exome sequences of over 16,000 individuals and found that very rare variants predicted to disrupt the SETD1A gene confer substantial risk for schizophrenia. Damaging variants in SETD1A were also associated with diverse, severe developmental disorders, providing an important genetic link between schizophrenia and other neurodevelopmental disorders.

Tarjinder Singh
Mitja I Kurki
Jeffrey C Barrett
Research14 Mar 2016
Nature Neuroscience

Volume: 19, P: 571-577
The International Network on Oesophageal Atresia (INoEA) consensus guidelines on the transition of patients with oesophageal atresia–tracheoesophageal fistula

Currently, systematic care for adults and adolescents with oesophageal atresia–tracheoesophageal fistula (EA-TEF) as they transition into adulthood is lacking. A multidisciplinary group of experts structured this Consensus Statement offering guidelines for the care of adolescents and adults with EA-TEF during transition.

Usha Krishnan
Michael W. Dumont
Christophe Faure
Reviews07 Jun 2023
Nature Reviews Gastroenterology & Hepatology

Volume: 20, P: 735-755
Context-dependent effects of CDKN2A and other 9p21 gene losses during the evolution of esophageal cancer

Ganguli et al. show that CDKN2A loss in Barrett’s esophagus prevents esophageal adenocarcinoma initiation by counterselecting subsequent TP53 loss and report context-dependent effects of 9p21 gene co-deletions on disease progression.

Piyali Ganguli
Celia C. Basanta
Francesca D. Ciccarelli
ResearchOpen Access03 Jan 2025
Nature Cancer

Volume: 6, P: 158-174
Mapping the human genetic architecture of COVID-19

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

Mari E. K. Niemi
Juha Karjalainen
Chloe Donohue
ResearchOpen Access08 Jul 2021
Nature

Volume: 600, P: 472-477
Familial Alzheimer’s mutations within APPTM increase Aβ42 production by enhancing accessibility of ε-cleavage site

In Alzheimer’s disease, familial mutations of the amyloid precursor protein (APP) can increase the production of the toxic cleavage product Aß42. Here, Chen et al. show that mutations within the transmembrane domain of APP favour Aß42 production by increasing the accessibility of the ε-cleavage site.

Wen Chen
Eric Gamache
Chunyu Wang
Research06 Jan 2014
Nature Communications

Volume: 5, P: 1-7
A comprehensive re-assessment of the association between vitamin D and cancer susceptibility using Mendelian randomization

Studies of the genetic association between vitamin D and cancer risk have typically been underpowered. Here the authors analyse this using Mendelian Randomisation with more than 70 vitamin D variants obtained from the UK Biobank and large-scale data from various consortia, confirming null associations between vitamin D and most cancers.

Jue-Sheng Ong
Suzanne C. Dixon-Suen
Stuart MacGregor
ResearchOpen Access11 Jan 2021
Nature Communications

Volume: 12, P: 1-10
Generation of mucosal mast cells is stimulated in vitro by factors derived from T cells of helminth-infected rats

David M. Haig
Thomas A. McKee
Hugh R. P. Miller
Research11 Nov 1982
Nature

Volume: 300, P: 188-190
A Ca-dependent Cl⁻ conductance in cultured mouse spinal neurones

David G. Owen
Menahem Segal
Jeffery L. Barker
Research11 Oct 1984
Nature

Volume: 311, P: 567-570
Chemical Constituents of Interstellar Clouds

DAVID BUHL
Research10 Dec 1971
Nature

Volume: 234, P: 332-334
Antarctic ice sheets at risk?

David Sugden
News & Views29 Oct 1992
Nature

Volume: 359, P: 775-776
A haplotype map of the human genome

David Altshuler
Peter Donnelly
Research27 Oct 2005
Nature

Volume: 437, P: 1299-1320
Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome

Hutchinson-Gilford Progeria Syndrome is characterized by premature aging with cardiovascular disease being the main cause of death. Here the authors show that inhibition of the NAT10 enzyme enhances cardiac function and fitness, and reduces age-related phenotypes in a mouse model of premature aging.

Gabriel Balmus
Delphine Larrieu
Stephen P. Jackson
ResearchOpen Access27 Apr 2018
Nature Communications

Volume: 9, P: 1-14
Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases

Gastroesophageal reflux disease (GERD) is a major risk factor for Barret’s esophagus (BE) and esophageal adenocarcinoma (EA). Here, An et al. report 25 genetic loci for GERD, many of which associate with BE and EA or with other traits such as BMI.

Jiyuan An
Puya Gharahkhani
Stuart MacGregor
ResearchOpen Access16 Sept 2019
Nature Communications

Volume: 10, P: 1-10
Hypermethylation of the nel-like 1 gene is a common and early event and is associated with poor prognosis in early-stage esophageal adenocarcinoma

Z Jin
Y Mori
S J Meltzer
Research23 Apr 2007
Oncogene

Volume: 26, P: 6332-6340
Prevalence and Prognostic Significance of Neuroendocrine Cells in Esophageal Adenocarcinoma

Katherine Hamilton
Alberto Chiappori
Kay Washington
Research01 May 2000
Modern Pathology

Volume: 13, P: 475-481
Genomic evidence supports a clonal diaspora model for metastases of esophageal adenocarcinoma

Whole-genome sequencing and phylogenetic analysis of nearly 400 esophageal adenocarcinoma samples suggest a model of rapid subclone spreading from the primary tumor to multiple metastatic sites, which the authors term ‘clonal diaspora’.

Ayesha Noorani
Xiaodun Li
Rebecca C. Fitzgerald
Research06 Jan 2020
Nature Genetics

Volume: 52, P: 74-83
The landscape of selection in 551 esophageal adenocarcinomas defines genomic biomarkers for the clinic

Genomic analysis of 551 esophageal adenocarcinomas identifies new driver mutations and biomarkers associated with poor prognosis. More than 50% of esophageal adenocarcinomas contain sensitizing events for CDK4/CDK6 inhibitors, thus providing an evidence base for targeted therapeutics.

Alexander M. Frankell
SriGanesh Jammula
Rebecca C. Fitzgerald
Research04 Feb 2019
Nature Genetics

Volume: 51, P: 506-516
Disentangling oncogenic amplicons in esophageal adenocarcinoma

Esophageal adenocarcinoma is characterised by frequent amplifications in oncogenes. Here, the authors use short- and long-read sequencing approaches to analyze primary tumor samples and tumour-derived organoids and to investigate the mechanisms underlying complex amplifications.

Alvin Wei Tian Ng
Dylan Peter McClurg
Rebecca C. Fitzgerald
ResearchOpen Access14 May 2024
Nature Communications

Volume: 15, P: 1-13
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

An analysis of 24,202 critical cases of COVID-19 identifies potentially druggable targets in inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).

Erola Pairo-Castineira
Konrad Rawlik
J. Kenneth Baillie
ResearchOpen Access17 May 2023
Nature

Volume: 617, P: 764-768
Assessing transmissibility of SARS-CoV-2 lineage B.1.1.7 in England

Genetic and testing data from England show that the SARS-CoV-2 variant of concern B.1.1.7 has a transmission advantage over other lineages.

Erik Volz
Swapnil Mishra
Neil M. Ferguson
Research25 Mar 2021
Nature

Volume: 593, P: 266-269
1α, 25-Dihydroxyvitamin D₃, and 24,25-dihydroxyvitamin D₃ in vitro synthesis by human decidua and placenta

Y. Weisman
A. Harell
A. Golander
Research27 Sept 1979
Nature

Volume: 281, P: 317-319
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

Paul R Burton
David G Clayton
Matthew A Brown
Research21 Oct 2007
Nature Genetics

Volume: 39, P: 1329-1337
Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy

Oesophageal adenocarcinoma is often treated with chemotherapy before surgery. Here, the authors sequence cancer samples before and after chemotherapy and examine how the genome changes, focusing on changes in driver gene mutations and differential clonal evolution between good and poor responders.

John M. Findlay
Francesc Castro-Giner
Ian Tomlinson
ResearchOpen Access05 Apr 2016
Nature Communications

Volume: 7, P: 1-13
Sexual polymorphisms in Narcissus triandrus (Amaryllidaceae): is this species tristylous?

Spencer C H Barrett
William W Cole
David G Lloyd
Research01 Feb 1997
Heredity

Volume: 78, P: 135-145
Defective Viral Particles and Viral Disease Processes

ALICE S. HUANG
DAVID BALTIMORE
Research25 Apr 1970
Nature

Volume: 226, P: 325-327
Voluntary universal testing and treatment is unlikely to lead to HIV elimination: a modeling analysis

Bradley Wagner
Sally Blower
ResearchOpen Access29 Oct 2009
Nature Precedings

P: 1

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