Article
Resolving pathogenicity classification for the CDH1 c.[715G>A] (p.Gly239Arg) Variant.
European journal of human genetics : EJHG - 1 Jul 2021
Yelskaya Zarina, Arnold Angela G, Marcell Vanessa J, Tang Laura H, Salo-Mullen Erin E, Strong Vivian E, Stadler Zsofia K, Zhang Liying
Abstract excerpt
Hereditary Diffuse Gastric Cancer (HDGC) syndrome is associated with CDH1 germline likely pathogenic/pathogenic variants. Carriers of CDH1 germline likely pathogenic/pathogenic variants are predisposed to diffuse gastric cancer and lobular breast cancer. This study aims to classify the CDH1 c.[71...
Topics
- Alleles
- Amino Acid Substitution
- Antigens, CD
- Biopsy
- Cadherins
- Computational Biology
- DNA Mutational Analysis
- Databases, Genetic
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Genotype
- Humans
- Immunohistochemistry
- Male