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 |
|---|---|---|---|---|---|---|
| CHEK2 | CHEK2:c.1100delC(p.Thr410fs) | 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 |
| CHEK2:c.599T>C(p.Ile157Thr) | 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 | |
| ATM | ATM:c.5557G>A(p.Asp1853Asn) | Expressivity | Risk factor | From review article | ATM found to be the mutation target and also a modifier gene with more risk of developing the disease by its polymorphism in variant of ATM D1853N. Imore | more |
| APC | APC:c.3920T>A(p.Ile1307Lys) | 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 |
| ABCB1 | ABCB1:c.530+139C>T | Expressivity | Risk factor | P interaction=0.04 | Polymorphisms in genes related to estrogen transport and signaling may modify MHT-associated CRC riskmore | more |