Genetic Features of Tumours Arising in the Context of Suspected Hereditary Cancer Syndromes with RAD50, RAD51C/D, and BRIP1 Germline Mutations, Results of NGS-Reanalysis of BRCA/MMR-Negative Families
Broader ranges of malignancies, including gastric, lung, and bladder, have been identified among <i>BRIP1</i>, <i>RAD51D</i>, and <i>RAD51C</i> positive families. The results generated using NGS provide a comprehensive genetic landscape in each patient that could explain the diversity of phenotypes shown in PV families that, combined with non-genetic factors, might enable accurate surveillance and personalized treatments. NGS reanalysis doubled our diagnostic yield and was a good strategy to identify hereditary cancer families that would otherwise be overlooked.
Authors
- Noemí Martínez (ORCID: https://orcid.org/0000-0002-8628-7449)
- Lucía Mateo (ORCID: https://orcid.org/0009-0008-4273-1967)
- Amaya Olaverri
- Mónica Arranz-Ledo (ORCID: https://orcid.org/0000-0002-1707-4001)
- Mar Infante (ORCID: https://orcid.org/0000-0002-7197-5249)
- Lara Hernández (ORCID: https://orcid.org/0000-0002-7932-271X)
- Marta Orozco
- M. Durán (ORCID: https://orcid.org/0000-0002-6301-9732)
- Enrique Lastra
Institutions
- Universidad de Valladolid (ES)
- Consejo Superior de Investigaciones Científicas (ES)
- Hospital Universitario de Burgos (ES)
- Instituto de Biomedicina y Genética Molecular de Valladolid (ES)
- Hospital Universitario Río Hortega (ES)
Publication Details
- Journal
- Genes
- Published
- 2025-04-16
- DOI
- https://doi.org/10.3390/genes16040458
- Citations
- 4
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 5.89
Funders
- Universidad de Valladolid
- Junta de Castilla y León