Por favor, use este identificador para citar o enlazar a este item:
http://hdl.handle.net/10261/288685
COMPARTIR / EXPORTAR:
SHARE CORE BASE | |
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
Título: | Increased co-occurrence of pathogenic variants in hereditary breast and ovarian cancer and lynch syndromes: A consequence of multigene panel genetic testing? |
Autor: | Infante, Mar CSIC ORCID; Arranz-Ledo, Mónica; Lastra, Enrique; Abella Santos, Luis Enrique; Ferreira, Raquel; Orozco, Marta; Hernández, Lara CSIC ORCID; Martínez, Noemí CSIC ORCID; Durán, Mercedes CSIC ORCID | Palabras clave: | Hereditary Breast and Ovarian Cancer Syndrome (HBOC) Lynch Syndrome (LS) Multi-gene panel testing Double heterozygotes Genetic counseling |
Fecha de publicación: | 2022 | Editor: | Multidisciplinary Digital Publishing Institute | Citación: | International Journal of Molecular Sciences 23(19): 11499 (2022) | Resumen: | The probability of carrying two pathogenic variants (PVs) in dominant cancer-predisposing genes for hereditary breast and ovarian cancer and lynch syndromes in the same patient is uncommon, except in populations where founder effects exist. Two breast cancer women that are double heterozygotes (DH) for both BRCA1/BRCA2, one ovarian cancer case DH for BRCA1/RAD51C, and another breast and colorectal cancer who is DH for BRCA2/PMS2 were identified in our cohort. Ages at diagnosis and severity of disease in BRCA1/BRCA2 DH resembled BRCA1 single-carrier features. Similarly, the co-existence of the BRCA2 and PMS2 mutations prompted the development of breast and colorectal cancer in the same patient. The first BRCA1/BRCA2 DH was identified by HA-based and Sanger sequencing (1 of 623 families with BRCA PVs). However, this ratio has increased up to 2.9% (1 DH carrier vs. 103 single PV carriers) since using a custom 35-cancer gene on-demand panel. The type of cancer developed in each DH patient was consistent with the independently inherited condition, and the clinical outcome was no worse than in patients with single BRCA1 mutations. Therefore, the clinical impact, especially in patients with two hereditary syndromes, lies in genetic counseling tailor-made for each family based on the clinical guidelines for each syndrome. The number of DH is expected to be increased in the future as a result of next generation sequencing routines. | Versión del editor: | http://dx.doi.org/10.3390/ijms231911499 | URI: | http://hdl.handle.net/10261/288685 | DOI: | 10.3390/ijms231911499 | Identificadores: | doi: 10.3390/ijms231911499 issn: 1661-6596 e-issn: 1422-0067 |
Aparece en las colecciones: | (IBGM) Artículos |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
---|---|---|---|---|
Increased Co-Occurrence_Infante_PV_Art2022.pdf | 1,04 MB | Adobe PDF | Visualizar/Abrir |
CORE Recommender
SCOPUSTM
Citations
3
checked on 26-abr-2024
WEB OF SCIENCETM
Citations
3
checked on 26-feb-2024
Page view(s)
35
checked on 26-abr-2024
Download(s)
101
checked on 26-abr-2024
Google ScholarTM
Check
Altmetric
Altmetric
Este item está licenciado bajo una Licencia Creative Commons