Journal article
CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer
Genes, Vol.11(4), p.391
04/01/2020
DOI: 10.3390/genes11040391
PMCID: PMC7231129
PMID: 32260281
Abstract
Pathogenic variants in CDH1, encoding epithelial cadherin (E-cadherin), have been implicated in hereditary diffuse gastric cancer (HDGC), lobular breast cancer, and both syndromic and non-syndromic cleft lip/palate (CL/P). Despite the large number of CDH1 mutations described, the nature of the phenotypic consequence of such mutations is currently not able to be predicted, creating significant challenges for genetic counselling. This study collates the phenotype and molecular data for available CDH1 variants that have been classified, using the American College of Medical Genetics and Genomics criteria, as at least 'likely pathogenic', and correlates their molecular and structural characteristics to phenotype. We demonstrate that CDH1 variant type and location differ between HDGC and CL/P, and that there is clustering of CL/P variants within linker regions between the extracellular domains of the cadherin protein. While these differences do not provide for exact prediction of the phenotype for a given mutation, they may contribute to more accurate assessments of risk for HDGC or CL/P for individuals with specific CDH1 variants.
Details
- Title: Subtitle
- CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer
- Creators
- Arthavan Selvanathan - The University of SydneyCheng Yee Nixon - Canterbury District Health BoardYing Zhu - Prince of Wales HospitalLuigi Scietti - University of PaviaFederico Forneris - University of PaviaLina M. Moreno Uribe - University of IowaAndrew C. Lidral - Lidral Orthodontics, Rockford, MI 49341, USA.Peter A. Jezewski - University of Alabama at BirminghamJohn B. Mulliken - Boston Children's HospitalJeffrey C. Murray - University of IowaMichael F. Buckley - Prince of Wales HospitalTimothy C. Cox - University of Missouri–Kansas CityTony Roscioli - Prince of Wales Hospital
- Resource Type
- Journal article
- Publication Details
- Genes, Vol.11(4), p.391
- DOI
- 10.3390/genes11040391
- PMID
- 32260281
- PMCID
- PMC7231129
- NLM abbreviation
- Genes (Basel)
- ISSN
- 2073-4425
- eISSN
- 2073-4425
- Publisher
- Mdpi
- Number of pages
- 16
- Grant note
- Cleft Palate Foundation GM114640 / National Institute of General Medical Sciences; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of General Medical Sciences (NIGMS) DE027879; DE014667; 1U01DE024449-01; DE023575; DE024776; DE008559 / National Institute of Dental and Craniofacial Research; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Dental & Craniofacial Research (NIDCR) HD000836 / National Institute of Child Health and Human Development; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) AU/1/BA51117 / Australian NHMRC Project; National Health and Medical Research Council (NHMRC) of Australia Stowers Family Endowed Chair for Mineralized Tissue Research HG006493 / National Human Genome Research Institute; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Human Genome Research Institute (NHGRI) Ohio State University RO1/DE014667 / National Institutes of Health; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA American Association of Orthodontists Foundation University of Iowa AU/1/BA51117 / National Health and Medical Research Council; National Health and Medical Research Council (NHMRC) of Australia 2/UL1/TR000442-06 / National Centre for Advancing Translational Sciences FY98-0718; 6-FY01-616 / March of Dimes Foundation; March of Dimes 2/UL1/TR000442-06 / University of Iowa Department of Orthodontics
- Language
- English
- Date published
- 04/01/2020
- Academic Unit
- Orthodontics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984367752202771
Metrics
26 Record Views