CDH1 Missense Variant c.1679C>G (p.T560R) Completely Disrupts Normal Splicing through Creation of a Novel 5’ Splice Site

Hereditary Diffuse Gastric Cancer Syndrome

(2015) Samantha Hansford et al.   JAMA Oncology

BAP1 Missense Mutation c.2054 A>T (p.E685V) Completely Disrupts Normal Splicing through Creation of a Novel 5’ Splice Site in a Human Mesothelioma Cell Line

(2015) Arianne Morrison et al.   PLoS One

The germline CDH1 c.48 G>C substitution contributes to cancer predisposition through generation of a pro-invasive mutation

(2014) Liying Zhang et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

E-cadherin gene re-expression in chronic lymphocytic leukemia cells by HDAC inhibitors

(2013) Gwen Jordaan et al.   BMC CANCER

Pick one, but be quick: 5' splice sites and the problems of too many choices

(2013) X. Roca et al.   GENES & DEVELOPMENT

CDH1germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study

(2013) Patrick R Benusiglio et al.   JOURNAL OF MEDICAL GENETICS

Exon 11 Skipping of E-Cadherin RNA Downregulates Its Expression in Head and Neck Cancer Cells

(2011) S. Sharma et al.   MOLECULAR CANCER THERAPEUTICS

Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice

(2010) Parry Guilford et al.   Gastric Cancer

Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research

(2010) R. C. Fitzgerald et al.   JOURNAL OF MEDICAL GENETICS

Novel roles of U1 snRNP in alternative splicing regulation

(2010) Emanuele Buratti et al.   RNA Biology

Aberrant splicing of the E-cadherin transcript is a novel mechanism of gene silencing in chronic lymphocytic leukemia cells

(2009) S. Sharma et al.   BLOOD

Quantification of Epigenetic and Genetic 2nd Hits in CDH1 During Hereditary Diffuse Gastric Cancer Syndrome Progression

(2009) Carla Oliveira et al.   GASTROENTEROLOGY

The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers

(2008) R Karam et al.   ONCOGENE