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 AccessExperiences of pediatric cancer patients (age 12–18 years) with extensive germline sequencing for cancer predisposition: a qualitative study
- Sebastian B. B. Bon
- , Roel H. P. Wouters
- & Martha A. Grootenhuis
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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 |
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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Brief Communication |
MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes
- Mariona Terradas
- , Noemi Gonzalez-Abuin
- & Laura Valle
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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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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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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 |
Minors at risk of von Hippel-Lindau disease: 10 years’ experience of predictive genetic testing and follow-up adherence
- Roseline Vibert
- , Khadija Lahlou-Laforêt
- & Anne-Paule Gimenez-Roqueplo
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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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Brief Communication |
Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data
- Mélanie Eyries
- , Olivier Ariste
- & Florence Coulet
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Article
| Open AccessPreferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting
- Megan C. Best
- , Phyllis Butow
- & Ainsley J. Newson
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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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Review Article
| Open AccessMultilocus Inherited Neoplasia Allele Syndrome (MINAS): an update
- Anthony McGuigan
- , James Whitworth
- & Eamonn R. Maher
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Article
| Open Access30 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
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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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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 AccessFamilial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2
- James Whitworth
- , Ruth T. Casey
- & Eamonn R. Maher
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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 |
Stakeholders’ views of integrating universal tumour screening and genetic testing for colorectal and endometrial cancer into routine oncology
- Rosie O’Shea
- , Nicole M. Rankin
- & Sarah Lewis
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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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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 |
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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Brief Communication |
High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors
- Ryota Shirai
- , Tomoo Osumi
- & Motohiro Kato
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Article
| Open AccessThe intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23—a likely pathogenic variant with reduced penetrance?
- Hildegunn Høberg-Vetti
- , Elisabet Ognedal
- & Per Morten Knappskog
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Article
| Open AccessEvaluation of current genetic testing reports in German-speaking countries with regard to secondary use and future electronic implementation
- Teja Falk Radke
- , Simon J. Patton
- & Sylvia Thun
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Viewpoint
| Open Access“Patient Journeys”: improving care by patient involvement
- Matt Bolz-Johnson
- , Jelena Meek
- & Nicoline Hoogerbrugge
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Article |
The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material
- Anne M. L. Jansen
- , Carli M. J. Tops
- & Hans Morreau
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Brief Communication |
APC transcription studies and molecular diagnosis of familial adenomatous polyposis
- Emma Short
- , Laura E. Thomas
- & Julian R. Sampson
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Article |
Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes
- Monika Morak
- , Kerstin Schaefer
- & Elke Holinski-Feder
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Article |
Exploring the effect of ascertainment bias on genetic studies that use clinical pedigrees
- John Michael O. Ranola
- , Ginger J. Tsai
- & Brian H. Shirts