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 |
|---|---|---|---|---|---|---|
| MAPK11 | MAPK11:c.-1628C>T | Expressivity | Risk factor | OR=1.99; 95% CI: 1.60-2.47; P<0.0001 | This allelic variant may be a genetic modifier for CRC susceptibility.more | more |
| LAMC1-AS1 | LAMC1-AS1:c.4473+737G>C | Expressivity | Risk factor | OR=1.29; 95% CI: 1.11-1.51, P=0.001 | The rs2147578 in lnc-LAMC2-1:1 might be a genetic modifier for the development of CRC.more | more |
| ESR2 | ESR2:c.*380C>G | Expressivity | Risk factor | OR=1.40; 95% CI: (0.98–2.00), P=0.046 | Polymorphisms in genes related to estrogen transport and signaling may modify MHT-associated CRC riskmore | more |
| ESR2:c.*56G>A | Expressivity | Risk factor | OR=1.48; 95% CI: (1.03–2.13), P=0.032 | Polymorphisms in genes related to estrogen transport and signaling may modify MHT-associated CRC riskmore | more | |
| ESR2:c.-12214T>G | Expressivity | Risk factor | OR=0.33; 95% CI: (0.11–1.01), P=0.015 | Polymorphisms in genes related to estrogen transport and signaling may modify MHT-associated CRC riskmore | more | |
| ESR1 | ESR1:c.851-13499C>T | Expressivity | Risk factor | P interaction=0.03 | Polymorphisms in genes related to estrogen transport and signaling may modify MHT-associated CRC riskmore | more |
| DNMT3B | DNMT3B:c.-843G>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 |
| CYP2C8 | CYP2C8:c.1196A>G(p.Lys399Arg) | Expressivity | Risk factor | OR=0.73, 95% CI: (0.56, 0.95) | The reduction in risk of colorectal cancer with regular NSAID usemore | more |
| CYP2C8:c.206G>A(p.Arg139Lys) | Expressivity | Risk factor | OR=0.73, 95% CI: (0.56, 0.95) | The reduction in risk of colorectal cancer with regular NSAID usemore | more | |
| CYP2C19 | CYP2C19:rs4244285 | Expressivity | Risk factor | OR=0.43 (0.18–0.98) 0.046 | Polymorphisms in genes related to estrogen transport and signaling may modify MHT-associated CRC riskmore | more |