Disorder "Colorectal Cancer"
Found 25 records
Disorder information
Disorder name:
Colorectal Cancer
Disoder ID:
OMIM entry:
Definition:
Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.
Modifier statisitcs
Record:
25
Gene:
20
Variant:
25
Reference:
10
Effect type:
Expressivity(24)
,Penetrance(1)
Modifier effect:
Risk factor(23)
,Altered incidence(1)
,Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TERT | TERT:c.1574-3777G>T | Expressivity | Risk factor | From review article | Genetic variants identifed using candidate-gene association studies, signifcantly associated with a risk of colorectal cancer in meta-analyses and showing strong and moderate cumulative evidence of association according to Venice criteria and false-positive report probability testsmore | more |
| PPARG | PPARG:c.478C>T | Expressivity | Risk factor | OR=0.73, 95% CI: (0.56, 0.95) | The reduction in risk of colorectal cancer with regular NSAID usemore | more |
| OGG1 | OGG1:p.Arg154His | Penetrance | Altered incidence | OR=3.586, P= 0.053 | OGG1 R154H may function as a low/moderate-penetrance modifier for colorectal cancer development.more | more |
| NFKB1A | NFKB1A:c.2758A>G | Expressivity | Risk factor | OR=1.71; 95% CI: 1.23-2.38 | NFκB1 and NFκBIA polymorphisms appear to jointly contribute to risk of CRC.more | more |
| NFKB1 | NFKB1:c.-94ins/delATTG | Expressivity | Risk factor | OR=1.71; 95% CI: 1.23-2.38 | NFκB1 and NFκBIA polymorphisms appear to jointly contribute to risk of CRC.more | more |
| MUTYH | MUTYH:c.1187G>A(p.Gly382Asp) | Expressivity | Risk factor | From review article | Genetic variants identifed using candidate-gene association studies, signifcantly associated with a risk of colorectal cancer in meta-analyses and showing strong and moderate cumulative evidence of association according to Venice criteria and false-positive report probability testsmore | more |
| MUTYH:c.176A>G(p.Tyr165Cys) | Expressivity | Risk factor | From review article | Genetic variants identifed using candidate-gene association studies, signifcantly associated with a risk of colorectal cancer in meta-analyses and showing strong and moderate cumulative evidence of association according to Venice criteria and false-positive report probability testsmore | more | |
| MTHFR | MTHFR:c.665C>T(p.Ala222Val) | Expressivity | Altered severity | From review article | Conveys protection against the development of colorectal cancermore | more |
| MLH1 | MLH1:c.-93G>A | Expressivity | Risk factor | From review article | Genetic variants identifed using candidate-gene association studies, signifcantly associated with a risk of colorectal cancer in meta-analyses and showing strong and moderate cumulative evidence of association according to Venice criteria and false-positive report probability testsmore | more |
| MIR124-1 | MIR124-1:n.*199C>G | Expressivity | Risk factor | Assessment of genotype–phenotype associations | Pri-miR-124 rs531564 polymorphism was significantly associated with the decreased risk of poor differentiation and lymph node metastasis of CRC and pri-miR-124 rs531564 polymorphism may be a genetic modifier for developing CRC.more | more |