Disorder "Hereditary nonpolyposis colon cancer"
Found 4 records
Disorder information
Disorder name:
Hereditary nonpolyposis colon cancer 
Disoder ID:
Synonyms:
Familial nonpolyposis colon cancer, HNPCC, Hereditary nonpolyposis colorectal cancer, Familial nonpolyposis colorectal cancer 
Definition:
An inherited disorder in which affected individuals have a higher-than-normal chance of developing colorectal cancer and certain other types of cancer, often before the age of 50. Also called HNPCC and Lynch syndrome. 
Modifier statisitcs
Record:
Gene:
Variant:
Reference:
Effect type:
Expressivity(2) ,Penetrance(2)  
Modifier effect:
Altered incidence(2) ,Risk factor(2)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
HFE HFE:c.187C>G(p.His63Asp) Expressivity  Risk factor  HR=0.58, P=0.012  The HFE H63D polymorphism seems to be a genetic modifier of disease expression in HNPCC.more more
CYP1A1 CYP1A1:c.T3810C Expressivity  Risk factor  Assessment of genotype–phenotype associations  The polymorphism in CYP1A1 (T3810C) is associated with an increased risk of colorectal cancermore more
ATM ATM:c.5557G>A(p.Asp1853Asn) Penetrance  Altered incidence  31/54 (57.5%); P=0.02  The ATM D1853N polymorphism modulates the penetrance of MLH1 and MSH2 germ-line mutationsmore more
ATM:c.5557G>A(p.Asp1853Asn) Penetrance  Altered incidence  12/13 (92%) ; P=0.02  The ATM 1853N variant was associated with a significantly higher incidence of colorectal and other HNPCC-related cancersmore more
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