Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR?

Autor: Daniele Paixão, Thalitta Hetamaro Ayala Lima, Rafaela Rogério Floriano de Souza, Juliana Emilia Prior Carnavalli, Clarissa Gondim Picanço-Albuquerque, Isabelle Joyce de Lima Silva-Fernandes, Paulo Goberlânio de Barros Silva, Miguel Mitne-Neto, Caroline Mônaco Moreira, Wagner Antônio da Rosa Baratela
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Frontiers in Oncology, Vol 14 (2024)
Druh dokumentu: article
ISSN: 2234-943X
DOI: 10.3389/fonc.2024.1390221
Popis: IntroductionLynch syndrome (LS) is an inherited cancer predisposition syndrome characterized by a high risk of colorectal and extracolonic tumors. Germline pathogenic variants (GPV) in the PMS2 gene are associated with
Databáze: Directory of Open Access Journals