Disorder "Lynch Syndrome"
Found 4 records
Disorder information
Disorder name:
Lynch Syndrome
Disoder ID:
OMIM entry:
Synonyms:
COCA 1,HNPCC - hereditary nonpolyposis colon cancer,Hereditary Defective Mismatch Repair syndrome,hereditary nonpolyposis colorectal cancer,hereditary nonpolyposis colorectal neoplasm
Definition:
An autosomal dominant disease that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
Modifier statisitcs
Record:
4
Gene:
4
Variant:
4
Reference:
3
Effect type:
Expressivity(4)
Modifier effect:
Altered onset time(2)
,Risk factor(2)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
TGFBR1 | TGFBR1:*6A | Expressivity | Risk factor | From review article | TGFBR1*6A occurs in approximately 14% of Caucasians and conveys a very modest B1.2-fold risk of CRC,more | more |
TERT | TERT:rs2075786 | Expressivity | Altered onset time | OR=2.90; 95% CI: 1.02-8.26 | MMR gene mutation carriers with hTERT rs2075786 are at high risk to develop a LS-related tumor at an early age.more | more |
MMR | MMR:p.Glu429Ala | Expressivity | Altered onset time | P=0.014, log-rank test; P=0.004, trend test | The C677T polymorphism modifies the age at onset of colorectal cancer in Caucasian Lynch syndrome subjects with the 677T allele having a protective effectmore | more |
APC | APC:c.3920T>A(p.Ile1307Lys) | Expressivity | Risk factor | From review article | I1307K polymorphism in the APC gene confers an approximately two-fold elevated risk of CRC by promoting genomic instability and frameshift mutations in the immediate genomic vicinity of codon 1307more | more |
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