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| Open AccessGuidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes
- Thierry Frebourg
- , Svetlana Bajalica Lagercrantz
- & Marja Hietala
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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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Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome
- Anke Marie Arnold
- , Monika Morak
- & Elke Holinski-Feder
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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
| Open AccessDutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction of DPYD and fluoropyrimidines
- Carin A. T. C. Lunenburg
- , Cathelijne H. van der Wouden
- & Henk-Jan Guchelaar
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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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Article
| Open AccessOne byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants
- Maria Weronika Gutowska-Ding
- , Zandra C. Deans
- & Simon J. Patton
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Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy
- Diantha Terlouw
- , Manon Suerink
- & Maartje Nielsen
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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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Exploring the effect of ascertainment bias on genetic studies that use clinical pedigrees
- John Michael O. Ranola
- , Ginger J. Tsai
- & Brian H. Shirts
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Article |
Sex specific associations in genome wide association analysis of renal cell carcinoma
- Ruhina S. Laskar
- , David C. Muller
- & Ghislaine Scelo
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Article |
Evaluation of telephone genetic counselling to facilitate germline BRCA1/2 testing in women with high-grade serous ovarian cancer
- Erin Tutty
- , Lara Petelin
- & Laura E. Forrest
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Brief Communication |
Case–control analysis identifies shared properties of rare germline variation in cancer predisposing genes
- Mykyta Artomov
- , Vijai Joseph
- & Mark J. Daly
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Article |
Differences in attitudes toward genetic testing among the public, patients, and health-care professionals in Korea
- Heesang Eum
- , Mangyeong Lee
- & Yoon Jung Chang
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Review Article |
Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)
- Erika K. S. M. Leenders
- , Harm Westdorp
- & Marjolijn C. J. Jongmans
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Article
| Open AccessPatient preferences for massively parallel sequencing genetic testing of colorectal cancer risk: a discrete choice experiment
- Deirdre Weymann
- , David L. Veenstra
- & Dean A. Regier
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Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers
- Berdine L Heesterman
- , Lisa M H de Pont
- & Jeroen C Jansen
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Brief Communication |
Risk of multiple pancreatic cancers in CDKN2A-p16-Leiden mutation carriers
- Isaura Ibrahim
- , Babs G. Sibinga Mulder
- & Hans F. A. Vasen
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Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer
- Laura Pena-Couso
- , José Perea
- & Miguel Urioste
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Genome-wide linkage analysis in Spanish melanoma-prone families identifies a new familial melanoma susceptibility locus at 11q
- Miriam Potrony
- , Joan Anton Puig-Butille
- & Susana Puig
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A pathogenic role for germline PTEN variants which accumulate into the nucleus
- Janire Mingo
- , Isabel Rodríguez-Escudero
- & Rafael Pulido
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Brief Communication |
Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients
- Julien Masliah-Planchon
- , Dominique Lévy
- & Franck Bourdeaut
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Review Article |
Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis
- Till Holsten
- , Susanne Bens
- & Ulrich Schüller
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Article |
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma
- Valentina Imperatore
- , Anna Maria Pinto
- & Francesca Ariani
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Article |
The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?
- Natalia Teixeira
- , Annemieke van der Hout
- & Geertruida H. de Bock
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Article |
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders
- Anna Norberg
- , Anna Rosén
- & Magnus Hultdin
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Correspondence |
Revisiting Wilms tumour surveillance in Beckwith–Wiedemann syndrome with IC2 methylation loss, reply
- Frédéric Brioude
- , Raoul Hennekam
- & Irene Netchine
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Article |
Knowledge, experiences and attitudes concerning genetics among retinoblastoma survivors and parents
- Jessica A Hill
- , Amal Gedleh
- & Helen Dimaras
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Article |
Genome-wide search for higher order epistasis as modifiers of treatment effects on bone mineral density in childhood cancer survivors
- Cindy Im
- , Kirsten K. Ness
- & Carmen L. Wilson
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Brief Communication |
Assessing the effectiveness of NICE criteria for stratifying breast cancer risk in a UK cohort
- Lucy A. Littlejohn
- , Jim Gibbs
- & Jonathan N. Berg
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Article |
Phenotypic characteristics of colorectal cancer in BRCA1/2 mutation carriers
- Albert Grinshpun
- , Naama Halpern
- & Tamar Peretz
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Brief Communication |
Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6
- Julia Taeubner
- , Katharina Wimmer
- & Michaela Kuhlen
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Brief Communication |
Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations
- Julia Taeubner
- , Triantafyllia Brozou
- & Michaela Kuhlen
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Article |
Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers
- Lisa Golmard
- , Laurent Castéra
- & Claude Houdayer
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Short Report |
Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes
- Leila Youssefian
- , Hassan Vahidnezhad
- & Jouni Uitto
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Article
| Open AccessUnraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing
- Ingrid P Vogelaar
- , Rachel S van der Post
- & Nicoline Hoogerbrugge
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Short Report |
The wide spectrum of POT1 gene variants correlates with multiple cancer types
- Oriol Calvete
- , Pablo Garcia-Pavia
- & Javier Benitez
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Article
| Open AccessUptake of genetic testing by the children of Lynch syndrome variant carriers across three generations
- Toni T Seppälä
- , Kirsi Pylvänäinen
- & Jukka-Pekka Mecklin
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Article |
Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer
- Grégoire Davy
- , Antoine Rousselin
- & Sophie Krieger
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Short Report
| Open AccessDeep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor
- Arnault Tauziède-Espariat
- , Julien Masliah-Planchon
- & Franck Bourdeaut
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Article |
Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines
- Jack Brzezinski
- , Cheryl Shuman
- & Rosanna Weksberg
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Article |
Genetically predicted high body mass index is associated with increased gastric cancer risk
- Yingying Mao
- , Caiwang Yan
- & Guangfu Jin
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Short Report |
Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree
- Kiran Tawana
- , Jun Wang
- & Csaba Bödör
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