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Article
| Open AccessPrediction of years of life after diagnosis of breast cancer using omics and omic-by-treatment interactions
- Agustín González-Reymúndez
- , Gustavo de los Campos
- & Ana I Vazquez
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Policy
| Open AccessEuropean registration process for Clinical Laboratory Geneticists in genetic healthcare
- Thomas Liehr
- , Isabel M Carreira
- & Martina Rincic
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Article
| Open AccessEvaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers
- Logan C Walker
- , Louise Marquart
- & Amanda B Spurdle
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Article |
Whole-exome sequencing of Finnish hereditary breast cancer families
- Kirsi Määttä
- , Tommi Rantapero
- & Johanna Schleutker
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Review
| Open AccessFinding all BRCA pathogenic mutation carriers: best practice models
- Nicoline Hoogerbrugge
- & Marjolijn CJ Jongmans
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Review
| Open AccessNew challenges for BRCA testing: a view from the diagnostic laboratory
- Andrew J Wallace
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Review
| Open AccessThe biological effects and clinical implications of BRCA mutations: where do we go from here?
- Dominique Stoppa-Lyonnet
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Article |
PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1
- Julia Vogt
- , Annekatrin Wernstedt
- & Katharina Wimmer
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Short Report
| Open AccessThe Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer
- Clara Esteban-Jurado
- , Sebastià Franch-Expósito
- & Sergi Castellví-Bel
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Short Report |
Unsolicited findings of next-generation sequencing for tumor analysis within a Dutch consortium: clinical daily practice reconsidered
- Rhodé M Bijlsma
- , Annelien L Bredenoord
- & Neeltje Steeghs
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Article |
A novel kinase mutation in VEGFR-1 predisposes its αC-helix/activation loop towards allosteric activation: Atomic insights from protein simulation
- Taseem A Mokhdomi
- , Shoiab Bukhari
- & Raies A Qadri
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Article |
CAG repeat size in Huntingtin alleles is associated with cancer prognosis
- Morgane Sonia Thion
- , Sophie Tézenas du Montcel
- & Sandrine Humbert
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Article |
A family-based, genome-wide association study of young-onset breast cancer: inherited variants and maternally mediated effects
- Katie M O'Brien
- , Min Shi
- & Clarice R Weinberg
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Article
| Open AccessGenomic complexity of urothelial bladder cancer revealed in urinary cfDNA
- Fiona S Togneri
- , Douglas G Ward
- & Richard T Bryan
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Article
| Open AccessPost-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling
- Annabeth Høgh Petersen
- , Mads Malik Aagaard
- & Anders Bojesen
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Article
| Open AccessBRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study
- Hildegunn Høberg-Vetti
- , Cathrine Bjorvatn
- & Nicoline Hoogerbrugge
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Article |
Health professionals’ opinions on supporting a cancer biobank: identification of barriers to combat biobanking pitfalls
- Nicole J Caixeiro
- , Hei Lan Byun
- & Cheok Soon Lee
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Article
| Open AccessSearch for new loci and low-frequency variants influencing glioma risk by exome-array analysis
- Ben Kinnersley
- , Yoichiro Kamatani
- & Richard S Houlston
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Article |
(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome
- Alessandro Mussa
- , Silvia Russo
- & Giovanni Battista Ferrero
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Article
| Open AccessClinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk
- Stéphanie Baert-Desurmont
- , Françoise Charbonnier
- & Thierry Frebourg
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Article
| Open AccessResponse to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2
- David J Kwiatkowski
- , Michael R Palmer
- & Julian R Sampson
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Article |
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism
- Sara Amitrano
- , Annabella Marozza
- & Francesca Ariani
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Article |
C6ORF97-ESR1 breast cancer susceptibility locus: influence on progression and survival in breast cancer patients
- Mutsuko Yamamoto-Ibusuki
- , Yutaka Yamamoto
- & Hirotaka Iwase
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Article |
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
- Jean- Benoît Courcet
- , Siham Chafai Elalaoui
- & Laurence Faivre
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Short Report |
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient
- Denise Emmerich
- , Tomasz Zemojtel
- & Mateusz Kolanczyk
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Clinical Utility Gene Card Update |
Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) - update 2014
- Stefan Aretz
- , Hans FA Vasen
- & Sylviane Olschwang
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Short Report |
Low frequency of TERT promoter mutations in gastrointestinal stromal tumors (GISTs)
- Nathália C Campanella
- , Ricardo Celestino
- & Rui M Reis
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Article |
A clinical and genetic analysis of multiple primary cancer referrals to genetics services
- James Whitworth
- , Jon Hoffman
- & Eamonn R Maher
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Short Report |
Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variant
- Thomas P Potjer
- , Heidi E Kranenburg
- & Hans F A Vasen
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Short Report |
Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome
- Binnaz Yasar
- , Helen J Byers
- & D Gareth Evans
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Article
| Open AccessEvaluation of the Dutch BRCA1/2 clinical genetic center referral criteria in an unselected early breast cancer population
- Alexandra J van den Broek
- , Karen de Ruiter
- & Marjanka K Schmidt
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Short Report |
Identification of previously unrecognized FAP in children with Gardner fibroma
- Joana Vieira
- , Carla Pinto
- & Manuel R Teixeira
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Article |
Pathway analysis with next-generation sequencing data
- Jinying Zhao
- , Yun Zhu
- & Momiao Xiong
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Short Report
| Open AccessCommon colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP
- Timothy H T Cheng
- , Maggie Gorman
- & Ian Tomlinson
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Short Report |
Brain tumor risk according to germ-line variation in the MLLT10 locus
- Kathleen M Egan
- , Rebekah Baskin
- & Alvaro N Monteiro
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Article |
Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia
- Li-li Pan
- , Yuan-mao Huang
- & Shao-yuan Wang
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Short Report |
Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer
- Abdulla Ibrahim
- , Daniel R Barnes
- & Jonathan N Berg
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Article |
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes
- Laurent Castéra
- , Sophie Krieger
- & Dominique Vaur
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Short Report |
Biallelic MUTYH mutations can mimic Lynch syndrome
- Monika Morak
- , Barbara Heidenreich
- & Elke Holinski-Feder
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Article |
Genetic ancestry is associated with colorectal adenomas and adenocarcinomas in Latino populations
- Gustavo Hernandez-Suarez
- , Maria Carolina Sanabria
- & Albert Tenesa
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Article |
DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix
- Natalia P Kisseljova
- , Petr Dmitriev
- & Yegor S Vassetzky
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Article |
Rescue of wild-type E-cadherin expression from nonsense-mutated cancer cells by a suppressor-tRNA
- Renata Bordeira-Carriço
- , Daniel Ferreira
- & Carla Oliveira
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Article |
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene
- Emilie Degrolard-Courcet
- , Joanna Sokolowska
- & Laurence Faivre
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Article |
Optimization of a pentaplex panel for MSI analysis without control DNA in a Brazilian population: correlation with ancestry markers
- Nathália C Campanella
- , Gustavo N Berardinelli
- & Rui M Reis
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Short Report |
A novel indel in exon 9 of APC upregulates a ‘skip exon 9’ isoform and causes very severe familial adenomatous polyposis
- Peh Yean Cheah
- , Yu Hui Wong
- & Choong Leong Tang
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Short Report |
HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome
- Willemien Beukers
- , Aleksander Hercegovac
- & Ellen C Zwarthoff
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Article |
The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype
- Chau-To Kwok
- , Ingrid P Vogelaar
- & Megan P Hitchins
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News and Commentary |
Do BRCA1/2 mutations and low FMR1 alleles interact or not?
- Norbert Gleicher
- , Andrea Weghofer
- & David H Barad
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