Nature Search

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

A region on chromosome 19p13 is associated with the risk of developing ovarian and breast cancer. Here, the authors genotyped SNPs in this region in thousands of breast and ovarian cancer patients and identified SNPs associated with three genes, which were analysed with functional studies.

Kate Lawrenson
Siddhartha Kar
Simon A. Gayther
ResearchOpen Access07 Sept 2016
Nature Communications

Volume: 7, P: 1-22
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

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 provide evidence of variant pathogenicity.

Maria Zanti
Denise G. O’Mahony
Kyriaki Michailidou
ResearchOpen Access25 May 2025
Nature Communications

Volume: 16, P: 1-18
Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

Previous studies identified an association between the 2q35 locus and breast cancer. Here, the authors show that a SNP at 2q35, rs4442975, is associated with oestrogen receptor positive disease and suggest that this effect is mediated through the downregulation of a known breast cancer gene, IGFBP5.

Maya Ghoussaini
Stacey L. Edwards
Anna De Fazio
Research23 Sept 2014
Nature Communications

Volume: 5, P: 1-12
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Breast cancer risk for BRCA1/BRCA2 mutation carriers varies depending on other genetic factors. Here, the authors perform a case-only genome-wide association study and highlight novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.

Juliette Coignard
Michael Lush
Antonis C. Antoniou
ResearchOpen Access17 Feb 2021
Nature Communications

Volume: 12, P: 1-22
A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

In breast cancer the contribution of different genetic variants to disease heritability is complex and not fully understood. Here, the authors present a network-based analysis in 84,567 patients studying ~7.3 million variants, identifying gene modules associated with breast cancer survival.

Maria Escala-Garcia
Jean Abraham
Marjanka K. Schmidt
ResearchOpen Access16 Jan 2020
Nature Communications

Volume: 11, P: 1-14
App-based COVID-19 syndromic surveillance and prediction of hospital admissions in COVID Symptom Study Sweden

The app-based COVID Symptom Study was launched in Sweden in April 2020 to contribute to real-time COVID-19 surveillance using daily symptom reports from study participants. Here, the authors show how syndromic surveillance can be used to estimate regional COVID-19 prevalence and to predict later COVID-19 hospital admissions.

Beatrice Kennedy
Hugo Fitipaldi
Tove Fall
ResearchOpen Access21 Apr 2022
Nature Communications

Volume: 13, P: 1-12
Discovery of drug–omics associations in type 2 diabetes with generative deep-learning models

Clinical multi-omics data are integrated and analyzed using a generative deep-learning model.

Rosa Lundbye Allesøe
Agnete Troen Lundgaard
Moustafa Abdalla
ResearchOpen Access02 Jan 2023
Nature Biotechnology

Volume: 41, P: 399-408
Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease

Elin S Blom
Jayashree Viswanathan
Mikko Hiltunen
Research28 Nov 2007
European Journal of Human Genetics

Volume: 16, P: 171-175
CagriSema drives weight loss in rats by reducing energy intake and preserving energy expenditure

This carefully designed study demonstrates that CagriSema overcomes metabolic adaptation in response to weight loss in rats.

Julie Mie Jacobsen
Jens Frey Halling
Rune Ehrenreich Kuhre
ResearchOpen Access08 Jul 2025
Nature Metabolism

Volume: 7, P: 1322-1329
Deconwolf enables high-performance deconvolution of widefield fluorescence microscopy images

Deconwolf is a computationally efficient and user-friendly software tool for fluorescence microscopy image deconvolution that improves the analysis of diverse fluorescence in situ hybridization methods and can handle large datasets.

Erik Wernersson
Eleni Gelali
Magda Bienko
ResearchOpen Access06 Jun 2024
Nature Methods

Volume: 21, P: 1245-1256
A subset of type-II collagen-binding antibodies prevents experimental arthritis by inhibiting FCGR3 signaling in neutrophils

Rheumatoid arthritis (RA) involves several types of autoantibodies, which are usually considered pathogenic. In this study, the authors use phage display to develop antibodies targeting type-II collagen that are protective in multiple experimental models of RA.

Zhongwei Xu
Bingze Xu
Rikard Holmdahl
ResearchOpen Access23 Sept 2023
Nature Communications

Volume: 14, P: 1-14
Correlates of protection and viral load trajectories in omicron breakthrough infections in triple vaccinated healthcare workers

Correlation between vaccine induced serological response and protection against SARS-CoV-2 omicron infection is not well understood. Authors investigate breakthrough infections in triple-vaccinated healthcare workers, to characterise correlates of protection and viral characteristics.

Ulrika Marking
Sebastian Havervall
Charlotte Thålin
ResearchOpen Access22 Mar 2023
Nature Communications

Volume: 14, P: 1-10
A focus group study of ethical issues during climate-informed health decision-making

Healthcare emissions negatively affect the environment and health, posing ethical questions between health and environmental impacts. A focus group study in US health systems revealed a willingness to make environmentally informed health decisions and identified barriers to making such decisions.

Andrew Hantel
Emily Senay
Gregory A. Abel
Research12 Sept 2024
Nature Climate Change

Volume: 14, P: 1040-1046
Real-space observation of unbalanced charge distribution inside a perovskite-sensitized solar cell

The performance of perovskite solar cells has improved dramatically over just a few years but our understanding of how they work is incomplete. Bergmann et al.use Kelvin probe force microscopy to map the electric potential in these cells to show that an accumulation of holes could limit this performance.

Victor W. Bergmann
Stefan A. L. Weber
Rüdiger Berger
Research22 Sept 2014
Nature Communications

Volume: 5, P: 1-9
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

Nichola Johnson
Sarah Maguire
Olivia Fletcher
ResearchOpen Access26 Jan 2021
British Journal of Cancer

Volume: 124, P: 842-854
Author Correction: Discovery of drug–omics associations in type 2 diabetes with generative deep-learning models

Rosa Lundbye Allesøe
Agnete Troen Lundgaard
Moustafa Abdalla
Amendments and CorrectionsOpen Access02 May 2023
Nature Biotechnology

Volume: 41, P: 1026
A functional variant in the CFI gene confers a high risk of age-related macular degeneration

Johannes van de Ven and colleagues report a rare missense mutation in CFI encoding a p.Gly119Arg substitution that confers a high risk of AMD. Sera from AMD cases carrying the p.Gly119Arg variant mediate the degradation of C3b at a significantly lower level than sera from AMD cases without the CFI variant.

Johannes P H van de Ven
Sara C Nilsson
Anneke I den Hollander
Research19 May 2013
Nature Genetics

Volume: 45, P: 813-817
Genome-wide association analysis identifies three new breast cancer susceptibility loci

Douglas Easton and colleagues report a genome-wide association analyses for breast cancer in ~70,000 cases and ~68,000 controls. They identify three new breast cancer susceptibility loci, two of which show association only with estrogen receptor–positive disease.

Maya Ghoussaini
Olivia Fletcher
Douglas F Easton
Research22 Jan 2012
Nature Genetics

Volume: 44, P: 312-318
Mendelian randomisation study of smoking exposure in relation to breast cancer risk

Hanla A. Park
Sonja Neumeyer
Jenny Chang-Claude
ResearchOpen Access02 Aug 2021
British Journal of Cancer

Volume: 125, P: 1135-1145
Author Correction: ‘Stealth’ corporate innovation: an emerging threat for therapeutic drug development

Dimitrios C. Mastellos
Anna M. Blom
John D. Lambris
Amendments and Corrections11 Oct 2019
Nature Immunology

Volume: 20, P: 1556
Intracellular cartilage oligomeric matrix protein augments breast cancer resistance to chemotherapy

Veroniaina Hanitrarimalala
Izabela Bednarska
Anna M. Blom
ResearchOpen Access04 Jul 2024
Cell Death & Disease

Volume: 15, P: 1-14
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
An exploratory network analysis to investigate schizotypy’s structure using the ‘Multidimensional Schizotypy Scale’ and ‘Oxford-Liverpool Inventory’ in a healthy cohort

Pierfrancesco Sarti
Werner Surbeck
Philipp Homan
ResearchOpen Access28 Feb 2025
Schizophrenia

Volume: 11, P: 1-10
Rare germline copy number variants (CNVs) and breast cancer risk

Dennis et al. investigate potential breast cancer associations with rare germline copy number variants (CNVs) by conducting a genome-wide analysis in a large breast cancer case-control dataset. The authors detected associations with exonic deletions in established breast cancer susceptibility genes and suggestive associations for a number of non-coding CNVs.

Joe Dennis
Jonathan P. Tyrer
Douglas F. Easton
ResearchOpen Access18 Jan 2022
Communications Biology

Volume: 5, P: 1-15
The complement system as a potential therapeutic target in rheumatic disease

In this review, the authors evaluate the association of complement activation with a variety of rheumatic diseases, including rheumatoid arthritis, systemic lupus erythematosus and small-vessel vascultis, and discuss whether complement inhibition has therapeutic potential in these diseases.

Leendert A. Trouw
Matthew C. Pickering
Anna M. Blom
Reviews10 Aug 2017
Nature Reviews Rheumatology

Volume: 13, P: 538-547
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

Gisella Figlioli
Amandine Billaud
Paolo Peterlongo
ResearchOpen Access27 Jan 2023
European Journal of Human Genetics

Volume: 31, P: 578-587
‘Stealth’ corporate innovation: an emerging threat for therapeutic drug development

Therapeutic innovations of potentially great clinical impact should embrace the overarching values of research accountability, data transparency and validation through the scientific peer-review process.

Dimitrios C. Mastellos
Anna M. Blom
John D. Lambris
Comments & Opinion27 Sept 2019
Nature Immunology

Volume: 20, P: 1409-1413
Two truncating variants in FANCC and breast cancer risk

Thilo Dörk
Paolo Peterlongo
Douglas F. Easton
ResearchOpen Access29 Aug 2019
Scientific Reports

Volume: 9, P: 1-14
Genetic predisposition to infection in a case of atypical hemolytic uremic syndrome

Lambertus van den Heuvel
Kristian Riesbeck
Elena Volokhina
Research13 Nov 2017
Journal of Human Genetics

Volume: 63, P: 93-96
DACRA induces profound weight loss, satiety control, and increased mitochondrial respiratory capacity in adipose tissue

Emilie A. Petersen
Ida Blom
Anna T. Larsen
Research15 Jun 2024
International Journal of Obesity

Volume: 48, P: 1421-1429
Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

Hatef Darabi
Jonathan Beesley
Alison M. Dunning
ResearchOpen Access07 Sept 2016
Scientific Reports

Volume: 6, P: 1-14
Genome-wide association study of germline variants and breast cancer-specific mortality

Maria Escala-Garcia
Qi Guo
Marjanka K. Schmidt
ResearchOpen Access21 Feb 2019
British Journal of Cancer

Volume: 120, P: 647-657
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
rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk

Jingjing Liu
Ivona Lončar
Antoinette Hollestelle
ResearchOpen Access15 Nov 2016
Scientific Reports

Volume: 6, P: 1-13
Individual whole-body concentration of ¹³⁷Cesium is associated with decreased blood counts in children in the Chernobyl-contaminated areas, Ukraine, 2008–2010

Anna Lindgren
Eugenia Stepanova
Wilfried Karmaus
Research25 Sept 2013
Journal of Exposure Science & Environmental Epidemiology

Volume: 25, P: 334-342
Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

Maria Escala-Garcia
Sander Canisius
Marjanka K. Schmidt
ResearchOpen Access05 Oct 2021
Scientific Reports

Volume: 11, P: 1-11
Moonlighting of Helicobacter pylori catalase protects against complement-mediated killing by utilising the host molecule vitronectin

Corinna Richter
Oindrilla Mukherjee
Kristian Riesbeck
ResearchOpen Access18 Apr 2016
Scientific Reports

Volume: 6, P: 1-13
Extracellular nanovesicles released from the commensal yeast Malassezia sympodialis are enriched in allergens and interact with cells in human skin

Henrik J. Johansson
Helen Vallhov
Annika Scheynius
ResearchOpen Access15 Jun 2018
Scientific Reports

Volume: 8, P: 1-11
Automatic Posture and Movement Tracking of Infants with Wearable Movement Sensors

Manu Airaksinen
Okko Räsänen
Sampsa Vanhatalo
ResearchOpen Access13 Jan 2020
Scientific Reports

Volume: 10, P: 1-13
Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

Jingjing Liu
Wendy J. C. Prager - van der Smissen
Antoinette Hollestelle
ResearchOpen Access16 Jun 2020
Scientific Reports

Volume: 10, P: 1-14
C3 glomerulopathy — understanding a rare complement-driven renal disease

This Review presents our current understanding of C3 glomerulopathy. Smith et al. discuss the histopathological diagnosis and the crucial pathogenic role of complement dysregulation. Genetic and acquired drivers of C3 glomerulopathy, potential biomarkers and available treatments are highlighted.

Richard J. H. Smith
Gerald B. Appel
Carla M. Nester
Reviews28 Jan 2019
Nature Reviews Nephrology

Volume: 15, P: 129-143
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Doris Škorić-Milosavljević
Najim Lahrouchi
Connie R. Bezzina
ResearchOpen Access10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1952-1960
Low Doses of Ethanol Enhance LTD-like Plasticity in Human Motor Cortex

Anna Fuhl
Florian Müller-Dahlhaus
Ulf Ziemann
Research03 Jun 2015
Neuropsychopharmacology

Volume: 40, P: 2969-2980
ITGB1-dependent upregulation of Caveolin-1 switches TGFβ signalling from tumour-suppressive to oncogenic in prostate cancer

Teijo Pellinen
Sami Blom
Miguel A. del Pozo
ResearchOpen Access05 Feb 2018
Scientific Reports

Volume: 8, P: 1-14
Effect of non-invasive spinal cord stimulation in unmedicated adults with major depressive disorder: a pilot randomized controlled trial and induced current flow pattern

Francisco Romo-Nava
Oluwole O. Awosika
Susan L. McElroy
ResearchOpen Access20 Dec 2023
Molecular Psychiatry

Volume: 29, P: 580-589
Cartilage oligomeric matrix protein contributes to the development and metastasis of breast cancer

E Englund
M Bartoschek
A M Blom
Research11 Apr 2016
Oncogene

Volume: 35, P: 5585-5596
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Doris Škorić-Milosavljević
Najim Lahrouchi
Connie R. Bezzina
Amendments and CorrectionsOpen Access14 Sept 2021
Genetics in Medicine

Volume: 23, P: 2013
Factor H uptake regulates intracellular C3 activation during apoptosis and decreases the inflammatory potential of nucleosomes

M Martin
J Leffler
A M Blom
Research15 Jan 2016
Cell Death & Differentiation

Volume: 23, P: 903-911

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