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:
4
Gene:
3
Variant:
3
Reference:
3
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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