Preferred Label : Lynch syndrome 1;
Symbol : LYNCH1;
CISMeF acronym : FCC1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Colorectal cancer, hereditary nonpolyposis, type 1; Colon cancer, familial nonpolyposis, type 1; HNPCC1; FCC1; COCA1; Lynch syndrome II; Lynch syndrome I;
Description : Hereditary nonpolyposis colorectal cancer (HNPCC) is subdivided into (1) Lynch syndrome
I, or site-specific colonic cancer, and (2) Lynch syndrome II, or extracolonic cancer,
particularly carcinoma of the stomach, endometrium (see 608089), biliary and pancreatic
system, and urinary tract (Lynch and Lynch, 1979; Lynch et al., 1985; Mecklin and
Jarvinen, 1991). HNPCC disorders show a proclivity to early onset, predominant proximal
location of colon cancer, a dominant pattern of inheritance, an excess of multiple
primary cancers, and significantly improved survival when compared stage for stage
with the American College of Surgeons Audit Series. Lynch et al. (1991) estimated
that hereditary nonpolyposis colorectal cancer accounts for about 4 to 6% of colorectal
cancer. The minimum criterion of HNPCC is that colorectal carcinoma is diagnosed and
histologically verified in at least 3 relatives belonging to 2 or more successive
generations. Moreover, the age of onset should be less than 50 years in at least 1
patient. The Muir-Torre syndrome (MRTES; 158320) is a form of Lynch syndrome II associated
with sebaceous skin tumors. - Genetic Heterogeneity of HNPCC;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the mutS homolog 2 gene (MSH2, 609309.0001);
Neoplasia : Nonpolyposis colon cancer;
Prefixed ID : #120435;
Origin ID : 120435;
UMLS CUI : C2936783;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
