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

Fecha de publicación: 25/02/2021 Fecha Ahead of Print: 25/02/2021

Autores de IIS La Fe

Ángel Agustín Segura Huerta

Autor

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

Investigación Clínica y Traslacional en Cáncer

Leader

José Gómez Codina

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
Tipo:: Article
Páginas:: 218-228
DOI:: 10.1002/cac2.12134
Factor de Impacto:: 2,357 SCImago ℠
Cuartil:: Q1 SCImago ℠

Documentos

No hay documentos

Métricas

Filiaciones

Ferrer-Avargues R:: Foundation for the Promotion of Health and Biomedical Research of Valencia Region (FISABIO), FISABIO- Elche Health Department, Elche, 032303, Spain
Castillejo MI:: Foundation for the Promotion of Health and Biomedical Research of Valencia Region (FISABIO), FISABIO- Elche Health Department, Elche, 032303, Spain

Molecular Genetics Unit. Elche University Hospital, Elche, 032303, Spain
Dámaso E:: Foundation for the Promotion of Health and Biomedical Research of Valencia Region (FISABIO), FISABIO- Elche Health Department, Elche, 032303, Spain

Molecular Genetics Unit. Elche University Hospital, Elche, 032303, Spain
Díez-Obrero V:: Foundation for the Promotion of Health and Biomedical Research of Valencia Region (FISABIO), FISABIO- Elche Health Department, Elche, 032303, Spain
Garrigos N:: Department of Molecular Biopathology, Immunological Center of Alicante, San Juan-Alicante, 03550, Spain
Molina T:: Department of Molecular Biopathology, Immunological Center of Alicante, San Juan-Alicante, 03550, Spain
Codoñer-Alejos A:: Foundation for the Promotion of Health and Biomedical Research of Valencia Region (FISABIO), FISABIO- Elche Health Department, Elche, 032303, Spain

Molecular Genetics Unit. Elche University Hospital, Elche, 032303, Spain
Segura Á:: Medical Oncology Department, Cancer Genetic Counseling Unit. La Fe University Hospital, Valencia, 46026, Spain
Sánchez-Heras AB:: Foundation for the Promotion of Health and Biomedical Research of Valencia Region (FISABIO), FISABIO- Elche Health Department, Elche, 032303, Spain

Medical Oncology Department, Cancer Genetic Counseling Unit. Elche University Hospital, Elche, 03203, Spain
Castillejo A:: Foundation for the Promotion of Health and Biomedical Research of Valencia Region (FISABIO), FISABIO- Elche Health Department, Elche, 032303, Spain

Molecular Genetics Unit. Elche University Hospital, Elche, 032303, Spain
Soto JL:: Foundation for the Promotion of Health and Biomedical Research of Valencia Region (FISABIO), FISABIO- Elche Health Department, Elche, 032303, Spain

Molecular Genetics Unit. Elche University Hospital, Elche, 032303, Spain

Keywords

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