1. Inicio
  2. Publicaciones
  3. Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Fecha de publicación: Fecha Ahead of Print:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Ferrer-Avargues R
  • Castillejo MI
  • Dámaso E
  • Díez-Obrero V
  • Garrigos N
  • Molina T
  • Codoñer-Alejos A
  • Sánchez-Heras AB
  • Castillejo A
  • Soto JL

Grupos

Abstract

Lynch syndrome (LS) is a hereditary condition characterized by a high risk of colorectal cancer, endometrial cancer, and other neoplasia associated with germline alterations in DNA mismatch repair genes. The classical genetic diagnostic strategy for LS consists of the Sanger sequencing of genes associated with the suspected syndrome. Next-generation sequencing (NGS) enables the simultaneous sequencing of a large number of hereditary cancer genes. Here, we aimed to study whether other germline pathogenic variants of hereditary cancer genes are present in patients with LS.

Datos de la publicación

ISSN/ISSNe:
2523-3548, 2523-3548

Cancer Communications  WILEY

Tipo:
Article
Páginas:
218-228
PubMed:
33630411
Factor de Impacto:
2,357 SCImago ℠
Cuartil:
Q1 SCImago ℠

Citas Recibidas en Web of Science: 13

Documentos

  • No hay documentos

Métricas

Filiaciones mostrar / ocultar

Keywords

  • cancer panel, hereditary cancer, lynch syndrome, moderate penetrance genes, multilocus inherited neoplasia alleles syndrome, next-generation sequencing, secondary findings

Campos de Estudio

Compartir