Disorder "Squamous Cell Carcinoma"
Found 5 records
Disorder information
Disorder name:
Squamous Cell Carcinoma
Disoder ID:
Synonyms:
epidermoid carcinoma,malignant squamous cell tumor,squamous carcinoma,squamous cell Epithelioma,squamous cell cancer
Definition:
The presence of squamous cell carcinoma of the skin.
Modifier statisitcs
Record:
5
Gene:
2
Variant:
5
Reference:
2
Effect type:
Expressivity(5)
Modifier effect:
Risk factor(5)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| mtDNA | mtDNA:c.151C/T | Expressivity | Risk factor | P=0.021 | The minor alleles of the nucleotides 151C/T, 200A/G, 524C/CA, and 16274G/A were specifically associated with the cancer risk of squamous cell carcinomamore | more |
| mtDNA:c.16274G/A | Expressivity | Risk factor | P=0.037 | The minor alleles of the nucleotides 151C/T, 200A/G, 524C/CA, and 16277G/A were specifically associated with the cancer risk of squamous cell carcinomamore | more | |
| mtDNA:c.200A/G | Expressivity | Risk factor | P=0.037 | The minor alleles of the nucleotides 151C/T, 200A/G, 524C/CA, and 16275G/A were specifically associated with the cancer risk of squamous cell carcinomamore | more | |
| mtDNA:c.524C/CA | Expressivity | Risk factor | P=0.019 | The minor alleles of the nucleotides 151C/T, 200A/G, 524C/CA, and 16276G/A were specifically associated with the cancer risk of squamous cell carcinomamore | more | |
| ERCC2 | ERCC2:c.2251A>C(p.Lys751Gln) | Expressivity | Risk factor | OR=2.1; 95% CI: 1.2-3.7 | The XPD Lys751Gln polymorphism was a significant modifier of the OC-SCC associationmore | more |
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