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
Mechanisms and therapeutic implications of hypermutation in gliomas

Temozolomide therapy seems to lead to mismatch repair deficiency and hypermutation in gliomas, but not to an increase in response to immunotherapy.

Mehdi Touat
Yvonne Y. Li
Keith L. Ligon
Research15 Apr 2020
Nature

Volume: 580, P: 517-523
Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer

Daniel R. Barnes
Jonathan P. Tyrer
Paul D. P. Pharoah
ResearchOpen Access20 Nov 2025
npj Genomic Medicine

Volume: 10, P: 1-21
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients

Gaetan Lesca
Emmanuelle Genin
Henri Plauchu
Research20 Feb 2008
European Journal of Human Genetics

Volume: 16, P: 742-749
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
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Fine-mapping of causal variants and integration of epigenetic and chromatin conformation data identify likely target genes for 150 breast cancer risk regions.

Laura Fachal
Hugues Aschard
Alison M. Dunning
Research07 Jan 2020
Nature Genetics

Volume: 52, P: 56-73
Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer

Cancer driver mutations can occur within noncoding genomic sequences. Here, the authors develop a statistical approach to identify candidate noncoding driver mutations in DNase I hypersensitive sites in breast cancer and experimentally demonstrate they are regulatory elements of known cancer genes.

Matteo D′Antonio
Donate Weghorn
Kelly A Frazer
ResearchOpen Access05 Sept 2017
Nature Communications

Volume: 8, P: 1-16
Pathogenic germline variants in patients with early-onset colorectal cancer according to phenotype

Antoine Dardenne
Marion Dhooge
Patrick R. Benusiglio
Research17 Mar 2025
European Journal of Human Genetics

Volume: 33, P: 810-813
Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

Kate Lawrenson
Siddhartha Kar
Simon A. Gayther
Amendments and CorrectionsOpen Access08 Sept 2025
Nature Communications

Volume: 16, P: 1-2
Lynch syndrome: influence of additional susceptibility variants on cancer risk

Roseline Vibert
Jasmine Hasnaoui
Patrick R. Benusiglio
Research24 Apr 2023
European Journal of Human Genetics

Volume: 31, P: 1078-1082
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension

Florent Soubrier and colleagues identify biallelic mutations in EIF2AK4 as a major cause of pulmonary veno-occlusive disease, a rare form of pulmonary hypertension. EIF2AK4 encodes a serine-threonine kinase, and the disease-causing mutations are predicted to result in loss of protein function.

Mélanie Eyries
David Montani
Florent Soubrier
Research01 Dec 2013
Nature Genetics

Volume: 46, P: 65-69
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension

Florent Soubrier and colleagues report a genome-wide association study of pulmonary arterial hypertension. They identify a susceptibility locus near CBLN2 associated with a twofold elevated risk of developing this life-threatening disease.

Marine Germain
Mélanie Eyries
Florent Soubrier
Research17 Mar 2013
Nature Genetics

Volume: 45, P: 518-521
Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data

Mélanie Eyries
Olivier Ariste
Florence Coulet
Research11 Mar 2022
European Journal of Human Genetics

Volume: 30, P: 1187-1190
Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring

Erell Guillerm
Magali Svrcek
Chrystelle Colas
Research16 Jul 2020
European Journal of Human Genetics

Volume: 28, P: 1624-1628
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network

Gaëtan Lesca
Carla Olivieri
Henri Plauchu
Research01 Jan 2007
Genetics in Medicine

Volume: 9, P: 14-22
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

Denise G. O’Mahony
Susan J. Ramus
Elizabeth Santana dos Santos
ResearchOpen Access19 Apr 2023
British Journal of Cancer

Volume: 128, P: 2283-2294
Overcoming the challenges associated with universal screening for Lynch syndrome in colorectal and endometrial cancer

Patrick R. Benusiglio
Florence Coulet
Gregory Nuel
Correspondence15 May 2020
Genetics in Medicine

Volume: 22, P: 1422-1423
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Juliette Coignard
Michael Lush
Antonis C. Antoniou
Amendments and CorrectionsOpen Access14 May 2021
Nature Communications

Volume: 12, P: 1-2
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

Search

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

Mechanisms and therapeutic implications of hypermutation in gliomas

Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer

Pathogenic germline variants in patients with early-onset colorectal cancer according to phenotype

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

Lynch syndrome: influence of additional susceptibility variants on cancer risk

EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension

Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension

Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data

Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

Overcoming the challenges associated with universal screening for Lynch syndrome in colorectal and endometrial cancer

Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Search

Quick links

Search

Filter By:

Search

Quick links