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Updated: Sep 9, 2025

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
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Published on: October 6, 2014

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Mutación de la línea germinal BRCA2 y síndrome de Lynch en un paciente con múltiples tumores malignos primarios

Morgan M Puglisi1, Natasha N Dziarnowski2, Bohdan Baralo3

  • 1Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.

Case reports in oncological medicine
|August 29, 2025
PubMed
Resumen

Este caso destaca a un paciente raro con mutaciones tanto de BRCA2 como de PMS2, lo que lleva a cánceres de próstata, páncreas y pulmón metastásicos. El tratamiento eficaz con inhibidores de la PARP demuestra el potencial para controlar estos síndromes de cáncer hereditarios y agresivos.

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