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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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Short Report |
The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations
- Maria Teresa Ricci
- , Loredana Pennese
- & Liliana Varesco
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Variants at IRX4 as prostate cancer expression quantitative trait loci
- Xing Xu
- , Wasay M Hussain
- & Robert J Klein
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A systematic review of cancer GWAS and candidate gene meta-analyses reveals limited overlap but similar effect sizes
- Christine Q Chang
- , Ajay Yesupriya
- & Sheri D Schully
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Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care
- Fiona A Miller
- , Robin Z Hayeems
- & Lillian L Siu
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Experiences of predictive testing in young people at risk of Huntington’s disease, familial cardiomyopathy or hereditary breast and ovarian cancer
- Rhona MacLeod
- , Anna Beach
- & Lauren Kerzin-Storrar
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Short Report |
A MEN1 syndrome with a paraganglioma
- Yvan Jamilloux
- , Judith Favier
- & Françoise Archambeaud
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CHEK2*1100delC homozygosity in the Netherlands—prevalence and risk of breast and lung cancer
- Petra EA Huijts
- , Antoinette Hollestelle
- & Christi J van Asperen
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Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours
- Juliette Aury-Landas
- , Gaëlle Bougeard
- & Jean-Michel Flaman
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Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST
- Maria A Pantaleo
- , Annalisa Astolfi
- & Guido Biasco
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| Open AccessKernel canonical correlation analysis for assessing gene–gene interactions and application to ovarian cancer
- Nicholas B Larson
- , Gregory D Jenkins
- & Brooke L Fridley
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Oncogenic mutations and microsatellite instability phenotype predict specific anatomical subsite in colorectal cancer patients
- Giovanni Corso
- , Valeria Pascale
- & Franco Roviello
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PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers
- Marion Drüsedau
- , Jos C Dreesen
- & Aimée D Paulussen
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An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk in families with inherited non-syndromic predisposition
- Jason Ross
- , Linda Lockett
- & Garry N Hannan
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Comparison of genetic variation of breast cancer susceptibility genes in Chinese and German populations
- David Barzan
- , Marlon R Veldwijk
- & Frederik Wenz
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Short Report |
MED12 exon 2 mutations in histopathological uterine leiomyoma variants
- Netta Mäkinen
- , Pia Vahteristo
- & Lauri A Aaltonen
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Clinical Utility Gene Card |
Clinical utility gene card for: Hereditary diffuse gastric cancer (HDGC)
- Carla Oliveira
- , Raquel Seruca
- & Fátima Carneiro
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Article
| Open AccessAssociation between a 15q25 gene variant, nicotine-related habits, lung cancer and COPD among 56 307 individuals from the HUNT study in Norway
- Maiken E Gabrielsen
- , Pål Romundstad
- & Frank Skorpen
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Short Report |
Where Birt–Hogg–Dubé meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours
- Laura Maria Pradella
- , Martin Lang
- & Giuseppe Gasparre
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Clinical Utility Gene Card Update |
Clinical utility gene card for: Gorlin Syndrome - update 2013
- Lorenzo Lo Muzio
- , Lorenza Pastorino
- & Giovanna Bianchi Scarra
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MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events
- Stefan Aretz
- , Rossella Tricarico
- & Maurizio Genuardi
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Article
| Open AccessExploring resources for intrafamilial communication of cancer genetic risk: we still need to talk
- Kelly A McClellan
- , Erika Kleiderman
- & Denise Avard
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APC gene hypermethylation and prostate cancer: a systematic review and meta-analysis
- Yang Chen
- , Jie Li
- & Yanling Hu
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Angiogenetic axis angiopoietins/Tie2 and VEGF in familial breast cancer
- K Danza
- , B Pilato
- & S Tommasi
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Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum
- Xiaolong Zhou
- , Sikandar G Khan
- & Kenneth H Kraemer
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Short Report |
Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families
- Gorka Ruiz de Garibay
- , Avellaneda Díaz
- & Miguel de la Hoya
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News and Commentary |
Can manipulation of splicing offer gene therapy possibilities to those with tumour-prone disorders?
- D Gareth R Evans
- , Andrew Wallace
- & William Newman
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Short Report |
A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype
- Urielle Ullmann
- , David Unuane
- & Maryse Bonduelle
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In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2
- Elisabeth Castellanos
- , Imma Rosas
- & Eduard Serra
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Short Report |
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith–Wiedemann syndrome and ovarian steroid cell tumour
- Magdalena Gogiel
- , Matthias Begemann
- & Gertrud Strobl-Wildemann
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Short Report |
Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas
- Bertrand Isidor
- , Franck Bourdeaut
- & Cédric Le Caignec
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A focus group study on breast cancer risk presentation: one format does not fit all
- Michel Dorval
- , Karine Bouchard
- & Jacques Simard
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Short Report |
High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations
- Berdine L Heesterman
- , Jean Pierre Bayley
- & Jeroen C Jansen
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Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysis
- Claire L Simpson
- , Cheryl D Cropp
- & Joan E Bailey-Wilson
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Molecular alterations and expression of succinate dehydrogenase complex in wild-type KIT/PDGFRA/BRAF gastrointestinal stromal tumors
- Ricardo Celestino
- , Jorge Lima
- & José Manuel Lopes
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Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome
- Fernando Bellido
- , Elisabet Guinó
- & Laura Valle
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Short Report |
Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay
- Laurent Castéra
- , Catherine Dehainault
- & Claude Houdayer
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Clinical Utility Gene Card Update |
Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012
- Nils Rahner
- , Verena Steinke
- & Sylviane Olschwang
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Clinical Utility Gene Card Update |
Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012
- Stefan Aretz
- , Maurizio Genuardi
- & Frederik J Hes
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Article |
The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC
- Joana Figueiredo
- , Ola Söderberg
- & Raquel Seruca
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Article
| Open AccessPersonalized medicine and access to health care: potential for inequitable access?
- Kelly A McClellan
- , Denise Avard
- & Bartha M Knoppers
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A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin
- Iolanda Borelli
- , Marco A Barberis
- & Barbara Pasini
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MLH1 methylation screening is effective in identifying epimutation carriers
- Marta Pineda
- , Pilar Mur
- & Gabriel Capellá
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Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome
- Annette F Baas
- , Michael Gabbett
- & Katharina Wimmer
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Short Report |
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum
- Deborah Tamura
- , Sikandar G Khan
- & Kenneth H Kraemer
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Short Report |
Spontaneous disclosure of BRCA1/2 genetic test results to employers: a French prospective study
- François Eisinger
- , Roxane Fabre
- & Catherine Nogues
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C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome
- Michael Klüppel
- , Payman Samavarchi-Tehrani
- & Aleksander Hinek
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Characterization of the intronic portion of cadherin superfamily members, common cancer orchestrators
- Patrícia Oliveira
- , Remo Sanges
- & Carla Oliveira
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