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:
Gene:
Variant:
Reference:
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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