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

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

Lynch syndrome (LS) is an inherited cancer predisposition syndrome characterized by a high risk of colorectal and extracolonic tumors. Germline pathogenic variants (GPV) in the gene are associated with

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Veröffentlicht in:Frontiers in oncology 2024-06, Vol.14, p.1390221
Hauptverfasser: Paixão, Daniele, Lima, Thalitta Hetamaro Ayala, de Souza, Rafaela Rogério Floriano, Carnavalli, Juliana Emilia Prior, Picanço-Albuquerque, Clarissa Gondim, Silva-Fernandes, Isabelle Joyce de Lima, de Barros Silva, Paulo Goberlânio, Mitne-Neto, Miguel, Moreira, Caroline Mônaco, Baratela, Wagner Antônio da Rosa
Format: Artikel
Sprache:eng
Schlagworte:
long-range PCR
Lynch syndrome
next-generation sequencing
Oncology
PMS2 gene
PMS2CL pseudogene
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Zusammenfassung:Lynch syndrome (LS) is an inherited cancer predisposition syndrome characterized by a high risk of colorectal and extracolonic tumors. Germline pathogenic variants (GPV) in the gene are associated with
ISSN:2234-943X
2234-943X
DOI:10.3389/fonc.2024.1390221