Mutazioni BRCA/PALB2 ereditarie nella sindrome seno-ovarica precoce
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Mutazioni BRCA/PALB2 ereditarie nella sindrome seno-ovarica precoce

Mutazioni BRCA/PALB2 ereditarie nella sindrome seno-ovarica precoce


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About the Book

Le caratteristiche morfologiche dei carcinomi invasivi della mammella che si verificano nel contesto di una predisposizione ereditaria sono state descritte, ma sono poche. La frequenza di mutazioni BRCA1 ereditate è di circa il 3-4% nella popolazione di pazienti con carcinoma mammario. Questi carcinomi sono di tipo aspecifico ed eccezionalmente di altro tipo istologico; sono di alto grado con stroma ricco di linfociti nell'85% dei casi e di fenotipo triplo-negativo senza amplificazione di HER2. In presenza di altre mutazioni ereditarie di BRCA2, CHECK2, ATM e PALB2, i carcinomi mammari sono di solito di grado 3, aspecifici e luminali B. Le mutazioni ereditarie di TP53 si verificano in donne giovani di età inferiore ai 50 anni e sono amplificate per HER2 in oltre il 70% dei casi. L'uso di trattamenti come gli inibitori PARP per le pazienti i cui tumori presentano un difetto di ricombinazione omologa implica la ricerca di una mutazione costituzionale in un gene di predisposizione (attualmente BRCA/PALB2). Le caratteristiche morfologiche non sono sufficienti per identificare le pazienti più a rischio.


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Product Details
  • ISBN-13: 9786206999119
  • Publisher: KS Omniscriptum Publishing
  • Binding: Paperback
  • Language: Italian
  • Returnable: N
  • Weight: 177 gr
  • ISBN-10: 6206999114
  • Publisher Date: 29 Dec 2023
  • Height: 229 mm
  • No of Pages: 80
  • Spine Width: 5 mm
  • Width: 152 mm


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