Identification and somatic characterization of the germline pten promoter variant rs34149102 in a family with gastrointestinal and breast tumors

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SUMMARY

    MatInspector, PROMO, and OncoBase ) were used to search for potential TF binding_sites in the region of the identified PTEN promoter variant. This analysis was carried out by inputting a 40 bp sequence encompassing the rs34149102 genomic position (-1043/-1003) to search for binding_sites comprising the C or A allele. In an additional study investigating the potential effect of PTEN promoter variants on tumor characteristics and disease outcomes in 2412 breast cancer patients, an association was reported between the PTEN promoter rs34149102 A allele variant and a worse prognosis (worse long-term survival and the . . .

     

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