Variant "MLH1:c.-93G>A"
Search result: 1 record
Variant information
Gene:
MLH1 
Variant:
MLH1:c.-93G>A 
Genomic location:
chr3:37034946(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000249.3:c.-93G>A
protein_coding NM_001258271.1:c.-93G>A
protein_coding NM_001258273.1:c.-725G>A
protein_coding NM_014805.3:c.-378C>T
protein_coding NM_001167617.1:c.-7582G>A
protein_coding NM_001167618.1:c.-21023G>A
protein_coding NM_001167619.1:c.-21023G>A
protein_coding NM_001258274.1:c.-21023G>A
show all
dbSNP ID:
rs1800734  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Colorectal Cancer (DOID_9256)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    From review article 
    Effect:
    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 tests
    Reference:
    PMID25110415
    Title:
    Genetic predisposition to colorectal cancer: where we stand and future perspectives.
    Species studied:
    Human
    Abstract:
    The development of colorectal cancer (CRC) can be influenced by genetic factors in both familial cases and sporadic cases. Familial CRC has been associated with genetic changes in high-, moderate- and low-penetrance susceptibility genes. However, despite the availability of current gene-identification techniques, the genetic causes of a considerable proportion of hereditary cases remain unknown. Genome-wide association studies of CRC have identified a number of common low-penetrance alleles associated with a slightly increased or decreased risk of CRC. The accumulation of low-risk variants may partly explain the familial risk of CRC, and some of these variants may modify the risk of cancer in patients with mutations in high-penetrance genes. Understanding the predisposition to develop CRC will require investigators to address the following challenges: the identification of genes that cause uncharacterized hereditary cases of CRC such as familial CRC type X and serrated polyposis; the classification of variants of unknown significance in known CRC-predisposing genes; and the identification of additional cancer risk modifiers that can be used to perform risk assessments for individual mutation carriers. We performed a comprehensive review of the genetically characterized and uncharacterized hereditary CRC syndromes and of low- and moderate-penetrance loci and variants identified through genome-wide association studies and candidate-gene approaches. Current challenges and future perspectives in the field of CRC predisposition are also discussed.