Preferred Label : Diffuse gastric and lobular breast cancer syndrome;
Symbol : DGLBC;
CISMeF acronym : HDGC; LBC;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Gastric cancer, hereditary diffuse; Gastric cancer, familial diffuse breast cancer, lobular; HDGC; LBC;
Included titles and symbols : Diffuse gastric and lobular breast cancer syndrome with cleft lip and with or without
cleft palate;
Description : Hereditary diffuse gastric cancer is an autosomal dominant cancer predisposition syndrome.
Heterozygous CDH1 mutation carriers have a 70 to 80% lifetime risk of developing diffuse
gastric cancer. In addition to gastric cancer, up to 60% of female mutation carriers
develop lobular carcinoma of the breast, and some carriers may develop colorectal
cancer. Identification of mutation carriers is important, because the characteristic
microscopic foci of signet ring cell adenocarcinoma in;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the cadherin-1 gene (CDH1, 192090.0002);
Neoplasia : Colorectal cancer (in some patients); Signet ring cell adenocarcinoma; Breast cancer, lobular; Gastric cancer, diffuse type, poorly differentiated, high-grade submucosal lesions;
Prefixed ID : #137215;
Origin ID : 137215;
UMLS CUI : C1708349;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
- Validated automatic mappings to NTBT
