Featured
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Review Article
| Open AccessEMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer
- Trudi McDevitt
- , Miranda Durkie
- & Stacey Hume
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Meeting Report
| Open AccessWorkshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023
Clinical classification of genomic variants identified on sequencing is often challenging, with many variants classified as Variants of Uncertain Significance (VUS) on account of insufficient evidence. Advances in sequencing and gene synthesis has made feasible multiplexed assays of variant effect (MAVEs), which quantify the functional impact of many thousands of genomic variants in a single experiment. These assays and the functional evidence they generate have the potential to empower more accurate clinical variant classification. However, there are many outstanding challenges and opportunities that require joint resolution and specification, thus necessitating communication between the research scientists who have designed and performed MAVEs and the clinicians and diagnostic scientists who will apply their data to clinical variant classification. In the ‘Clinical Application of MAVE Data’ workshop, held on 12th July 2023 at the Wellcome Connecting Science Conference Centre in between two relevant research meetings, ‘Curating the Clinical Genome 2023’ and the ‘Mutational Scanning Symposium 2023’, 44 key scientific and/or clinical stakeholders were brought together to consider important questions relating to clinical application of MAVE data, such as quantitative validation, variant truth-sets, platforms and standards for dissemination of MAVE data. The outcomes and possible next steps that were discussed encompassed development of focused workshops to develop consensus recommendations, creating a MAVE evaluation working group, and collaboration of ClinVar and MaveDB to enact software changes that support enhanced functional data submission.
- Sophie Allen
- , Alice Garrett
- & Clare Turnbull
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Article
| Open AccessIdentification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway
- Fiona E. McRonald
- , Joanna Pethick
- & John Burn
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Brief Communication
| Open AccessWilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant—A first report
- James Whitworth
- , Ruth Armstrong
- & Eamonn R. Maher
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Article
| Open AccessGenome, HLA and polygenic risk score analyses for prevalent and persistent cervical human papillomavirus (HPV) infections
- Sally N. Adebamowo
- , Adebowale Adeyemo
- & Clement A. Adebamowo
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Brief Communication |
Associating CYP2A6 structural variants with ovarian and lung cancer risk in the UK Biobank: replication and extension
- Alec W. R. Langlois
- , Jennie G. Pouget
- & Rachel F. Tyndale
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Article
| Open AccessA 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing
- Pål Marius Bjørnstad
- , Ragnhild Aaløkken
- & Gregor D. Gilfillan
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Article
| Open AccessClinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome
- Fiona Lalloo
- , Anju Kulkarni
- & Helen Hanson
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Comment
| Open AccessPublic attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives
- Anna Rosén
- , Mateja Krajc
- & Svetlana Bajalica-Lagercrantz
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Article
| Open AccessThe contribution of morbidity and unemployment for the reduced labor market participation of individuals with neurofibromatosis 1 in Finland
- Roope A. Kallionpää
- , Edvard Johansson
- & Sirkku Peltonen
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Article |
Germline pathogenic variants in metaplastic breast cancer patients and the emerging role of the BRCA1 gene
- Giovanni Corso
- , Monica Marabelli
- & Bernardo Bonanni
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Brief Communication |
MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes
- Mariona Terradas
- , Noemi Gonzalez-Abuin
- & Laura Valle
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Article
| Open AccessDiagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients
- Jan Henkel
- , Andreas Laner
- & Elke Holinski-Feder
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Viewpoint |
Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?
- Saskia M. Maas
- , Izabela M. Krzyzewska
- & Jet Bliek
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Article
| Open AccessClinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians
- Shona M. Kerr
- , Emma Cowan
- & Zosia Miedzybrodzka
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Brief Communication
| Open AccessGenome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonization
- Anikó Bozsik
- , Henriett Butz
- & János Papp
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Article
| Open AccessFANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women
- Gisella Figlioli
- , Amandine Billaud
- & Paolo Peterlongo
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Article |
Functional analysis of PTEN variants of unknown significance from PHTS patients unveils complex patterns of PTEN biological activity in disease
- Leire Torices
- , Janire Mingo
- & Rafael Pulido
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Brief Communication |
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
- Irene Bottillo
- , Emanuele Savino
- & Paola Grammatico
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Article |
Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG
- Yuan Chun Ding
- , Aaron W. Adamson
- & Susan L. Neuhausen
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Comment |
The European Journal of Human Genetics is turning 30: a selection of major cancer genetics papers published by the Journal
- Patrick R. Benusiglio
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Article |
The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients
- Jarbas Maciel de Oliveira
- , Nuria Bengala Zurro
- & João Bosco Oliveira
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Article |
Association of microsatellite instability (MSI) status with the 5-year outcome and genetic ancestry in a large Brazilian cohort of colorectal cancer
- Gustavo Noriz Berardinelli
- , Ronílson Durães
- & Rui Manuel Reis
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Brief Communication |
Germline variant in Ctcf links mental retardation to Wilms tumor predisposition
- Pablo Gargallo
- , Silvestre Oltra
- & Jaime Font de Mora
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Article |
Prevalent versus incident breast cancers: benefits of clinical and radiological monitoring in women with pathogenic BRCA1/2 variants
- Claire Saule
- , Solveig Menu-Hespel
- & Emmanuelle Mouret-Fourme
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Article |
Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels
- Nihat Bugra Agaoglu
- , Busra Unal
- & Levent Doganay
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Comment |
Mosaicism in PTEN—new case and comment on the literature
- Paula Rofes
- , Álex Teulé
- & Conxi Lázaro
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Article
| Open AccessA polygenic risk score for multiple myeloma risk prediction
- Federico Canzian
- , Chiara Piredda
- & Daniele Campa
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Article |
Two distinct mechanisms underlie estrogen-receptor-negative breast cancer susceptibility at the 2p23.2 locus
- Gustavo Mendoza-Fandiño
- , Paulo Cilas M. Lyra Jr
- & Alvaro N. A. Monteiro
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Brief Communication |
Solving the enigma of POLD1 p.V295M as a potential cause of increased cancer risk
- Pilar Mur
- , Lorena Magraner-Pardo
- & Laura Valle
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Brief Communication
| Open AccessA mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report
- Iris B. A. W. te Paske
- , José Garcia-Pelaez
- & Richarda M. de Voer
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Article |
Patient-reported anticipated barriers and benefits to sharing cancer genetic risk information with family members
- Kelsey Stuttgen Finn
- , Joel Pacyna
- & Richard Sharp
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Article
| Open AccessComprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer
- Rabea Wagener
- , Julia Taeubner
- & Triantafyllia Brozou
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Article |
Mainstream genetic testing for breast cancer patients: early experiences from the Parkville Familial Cancer Centre
- Catherine Beard
- , Katrina Monohan
- & Paul A. James
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Article
| Open AccessGermline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives
- Sarah Bennett
- , Elizabeth Alexander
- & D. Gareth Evans
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Article |
Resolving pathogenicity classification for the CDH1 c.[715G>A] (p.Gly239Arg) Variant
- Zarina Yelskaya
- , Angela G. Arnold
- & Liying Zhang
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Article |
Examining the uptake of predictive BRCA testing in the UK; findings and implications
- Antony P. Martin
- , Jennifer Downing
- & Munir Pirmohamed
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Article
| Open AccessIn cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas
- Diana Le Duc
- , Julia Hentschel
- & Johannes R. Lemke
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Article |
SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome
- Gou Yamamoto
- , Izumi Miyabe
- & Kiwamu Akagi
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Article |
Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for “Lynch-like syndrome” including young patients
- Cedrick Lefol
- , Emilie Sohier
- & Qing Wang
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Article |
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach
- Maria Luisa Di Pietro
- , Drieda Zaçe
- & Maurizio Genuardi
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Correspondence |
Cancer surveillance for individuals with Li-Fraumeni syndrome
- Christian P. Kratz
- , Anita Villani
- & David Malkin
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Brief Communication |
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
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Article |
Comparisons of screening strategies for identifying Lynch syndrome among patients with MLH1-deficient colorectal cancer
- Binyi Xiao
- , Jun Luo
- & Pei-Rong Ding
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Article
| Open AccessCancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
- Marc Tischkowitz
- , Chrystelle Colas
- & Marja Hietala
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Article
| Open AccessGuidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes
- Thierry Frebourg
- , Svetlana Bajalica Lagercrantz
- & Marja Hietala
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Article |
The uptake of predictive DNA testing in 40 families with a pathogenic BRCA1/BRCA2 variant. An evaluation of the proband-mediated procedure
- Fred H. Menko
- , Kiki N. Jeanson
- & Lizet E. van der Kolk
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