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Home > Mathematics and Science Textbooks > Biology, life sciences > Life sciences: general issues > Genetics (non-medical) > Alterazioni genetiche in pazienti con cancro alla tiroide della valle del Kashmir
Alterazioni genetiche in pazienti con cancro alla tiroide della valle del Kashmir

Alterazioni genetiche in pazienti con cancro alla tiroide della valle del Kashmir


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Il carcinoma tiroideo è la neoplasia endocrina più diffusa e rappresenta il 2% di tutti i tumori umani. Abbiamo analizzato l'esone 15 del gene BRAF e gli esoni 1 e 2 dei geni RAS in sessanta (60) campioni consecutivi di tessuto tiroideo (tumorale e normale adiacente). Le mutazioni complessive in BRAF sono risultate pari al 25% (15 su 60) e interessano il codone 600 (da valina a glutammina) e sono limitate solo al carcinoma papillare della tiroide, ma senza alcuna mutazione di RAS. Abbiamo esaminato 140 campioni di sangue di pazienti affetti da cancro della tiroide per il polimorfismo HRAS T81C e RET rispetto a 170 controlli senza cancro. Il gene TSHR è risultato ipermetilato nel 25% (15 su 60) dei casi, con una forte associazione con livelli elevati di TSH. Concludiamo che sia gli eventi mutazionali che la sovraespressione del gene BRAF sono altamente implicati nella patogenesi del cancro della tiroide e la sovraespressione della proteina BRAF è indipendente dallo stato mutazionale di BRAF. I polimorfismi HRAS T81C e RET aumentano moderatamente il rischio di cancro della tiroide. Il nostro studio ha dimostrato un'elevata implicazione della metilazione del gene TSHR e la sua associazione significativa con la mutazione BRAF V600E nei tumori della tiroide, evidenziando una connessione positiva tra la via TSHR e la via della MAP chinasi.


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Product Details
  • ISBN-13: 9786208921996
  • Publisher: Edizioni Sapienza
  • Publisher Imprint: Edizioni Sapienza
  • Height: 229 mm
  • No of Pages: 196
  • Spine Width: 11 mm
  • Width: 152 mm
  • ISBN-10: 6208921996
  • Publisher Date: 31 May 2025
  • Binding: Paperback
  • Language: Italian
  • Returnable: N
  • Weight: 322 gr


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