Familial gastric cancer comprises at least three major syndromes: hereditary diffuse gastric
cancer, gastric adenocarcinoma and proximal polyposis of the stomach, and familial …

Orofacial clefts (OFCs) rank as the second most common congenital birth defect in the
United States after Down syndrome and are the most common head and neck congenital …

Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or
as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with …

Germline CDH1 mutations confer a high lifetime risk of developing diffuse gastric (DGC) and
lobular breast cancer (LBC). A multidisciplinary workshop was organised to discuss genetic …

The variant curation guidelines published in 2015 by the American College of Medical
Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) provided …

Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate
(CL/P), are among the most common birth defects in humans, affecting approximately 1 in …

E-cadherin and P-cadherin are major contributors to cell–cell adhesion in epithelial tissues,
playing pivotal roles in important morphogenetic and differentiation processes during …

ContextHereditary diffuse gastric cancer is caused by germline mutations in the epithelial
cadherin (CDH1) gene and is characterized by an increased risk for diffuse gastric cancer …

The vertebrate upper lip forms from initially freely projecting maxillary, medial nasal, and
lateral nasal prominences at the rostral and lateral boundaries of the primitive oral cavity …

Hereditary cancer syndromes account for nearly 10% of cancers even though they are often
underdiagnosed. Finding a pathogenic gene variant could have dramatic implications in …