Recurrence and variability of germline EPCAM deletions in Lynch syndrome

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Somatic Hypermethylation of MSH2 Is a Frequent Event in Lynch Syndrome Colorectal Cancers

(2010) T. Nagasaka et al.   CANCER RESEARCH

Epimutations and cancer predisposition: importance and mechanisms

(2010) Luke B Hesson et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Germline Epigenetic Silencing of the Tumor Suppressor Gene PTPRJ in Early-Onset Familial Colorectal Cancer

(2010) Ramprasath Venkatachalam et al.   GASTROENTEROLOGY

EPCAM Germ Line Deletions as Causes of Lynch Syndrome in Spanish Patients

(2010) Carla Guarinos et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

(2010) Marlies JE Kempers et al.   LANCET ONCOLOGY

Transcription is required for establishment of germline methylation marks at imprinted genes

(2009) M. Chotalia et al.   GENES & DEVELOPMENT

Germline hypermethylation ofMLH1andEPCAMdeletions are a frequent cause of Lynch syndrome

(2009) Renée C. Niessen et al.   GENES CHROMOSOMES & CANCER

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

(2009) Lisenka E.L.M. Vissers et al.   HUMAN MOLECULAR GENETICS

Deletions removing the last exon ofTACSTD1constitute a distinct class of mutations predisposing to Lynch syndrome

(2009) Marietta E. Kovacs et al.   HUMAN MUTATION

Alu-Alurecombination underlies the vast majority of largeVHLgermline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients

(2009) Gerlind Franke et al.   HUMAN MUTATION

Promoter targeted small RNAs induce long-term transcriptional gene silencing in human cells

(2009) Peter G. Hawkins et al.   NUCLEIC ACIDS RESEARCH

Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC

(2008) Monika Morak et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome

(2008) Patrice Watson et al.   INTERNATIONAL JOURNAL OF CANCER

Epigenetic silencing of tumour suppressor gene p15 by its antisense RNA

(2008) Wenqiang Yu et al.   NATURE

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1

(2008) Marjolijn J L Ligtenberg et al.   NATURE GENETICS