Search results for "Skin Squamous Cell Carcinoma"

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A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma.

2017

IF 1.590; International audience; Background: The tumor spectrum in the Lynch syndrome is well defined, comprising an increased risk of developing colonic and extracolonic malignancies. Muir-Torre syndrome is a variant with a higher risk of skin disease. Patients have been described carrying mutations in the mismatch repair genes and presenting tumors with unusual histology or affected organ not part of the Lynch syndrome spectrum. Hence, the real link between Lynch syndrome, or Muir-Torre syndrome, and these tumors remains difficult to assess.Case presentation: We present the case of a 45-year-old-woman, diagnosed with breast cancer at 39 years of age and skin squamous cell carcinoma (SCC)…

0301 basic medicinePathologymedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitieslcsh:QH426-470Case Report[SDV.CAN]Life Sciences [q-bio]/CancerMLH1lcsh:RC254-282Sebaceous adenoma[ SDV.CAN ] Life Sciences [q-bio]/Cancer03 medical and health sciences0302 clinical medicineSebaceous adenomaBreast cancerMuir–Torre syndromeSquamous cell carcinomaPMS2Skin Squamous Cell CarcinomaMedicineneoplasmsGenetics (clinical)MSIbusiness.industryMicrosatellite instabilitynutritional and metabolic diseasesMuir-Torre syndromeMSI-Llcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseaseMMRLynch syndromedigestive system diseases3. Good healthMSH2lcsh:Genetics030104 developmental biologyLynch syndromeOncologyMSH2030220 oncology & carcinogenesisCancer researchbusiness
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TGF-β/VEGF-A Genetic Variants Interplay in Genetic Susceptibility to Non-Melanocytic Skin Cancer

2022

Differential genetically determined expression of transforming growth factor-β (TGF-β pathway and of vascular endothelial growth factor-A (VEGF-A) might modulate the molecular “milieu” involved in the etio-pathogenesis of non-melanoma skin cancer (NMSC). We have evaluated the frequency of some functionally relevant SNPs of TGF-β and VEGF-A genes in 70 NMSC patients and 161 healthy controls, typed for TGF-β1 rs1800471, TGF-β2 rs900, TGF-βR1 rs334348 and rs334349, TGF-βR2 rs4522809 and VEGF-A rs3025039 SNPs. TGF-βR2 rs1800629G allele and related genotypes were found to be associated with a possible protective role against NMSC, whereas VEGF-…

Settore MED/04 - Patologia GeneraleVEGF-A geners1800629<i>TGF-β receptor genes</i>; <i>rs1800629</i>; <i>VEGF-A gene</i>; <i>rs3025039</i>; non melanocytic skin cancer; skin basal cell carcinoma; skin squamous cell carcinoma; genetic susceptibilityTGF-β receptor geneGeneticsskin basal cell carcinomaskin squamous cell carcinomaSettore MED/05 - Patologia Clinicanon melanocytic skin cancerGenetics (clinical)genetic susceptibilityrs3025039Genes; Volume 13; Issue 7; Pages: 1235
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