Carregant...
Fitxers
Tipus de document
ArticleVersió
Versió publicadaData de publicació
Llicència de publicació
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/125829
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape
Títol de la revista
Director/Tutor
ISSN de la revista
Títol del volum
Recurs relacionat
Resum
We wanted to implement an NGS strategy to globally analyze hereditary cancer with diagnostic quality while retaining the same degree of understanding and control we had in pre-NGS strategies. To do this, we developed the I2HCP panel, a custom bait library covering 122 hereditary cancer genes. We improved bait design, tested different NGS platforms and created a clinically driven custom data analysis pipeline. The I2HCP panel was developed using a training set of hereditary colorectal cancer, hereditary breast and ovarian cancer and neurofibromatosis patients and reached an accuracy, analytical sensitivity and specificity greater than 99%, which was maintained in a validation set. I2HCP changed our diagnostic approach, involving clinicians and a genetic diagnostics team from panel design to reporting. The new strategy improved diagnostic sensitivity, solved uncertain clinical diagnoses and identified mutations in new genes. We assessed the genetic variation in the complete set of hereditary cancer genes, revealing a complex variation landscape that coexists with the disease-causing mutation. We developed, validated and implemented a custom NGS-based strategy for hereditary cancer diagnostics that improved our previous workflows. Additionally, the existence of a rich genetic variation in hereditary cancer genes favors the use of this panel to investigate their role in cancer risk.
Matèries
Matèries (anglès)
Citació
Citació
CASTELLANOS, Elisabeth, GEL MORENO, Bernat, ROSAS, Inma, TORNERO, Eva, SANTÍN, Sheila, PLUVINET ORTEGA, Raquel, VELASCO, Juan, SUMOY, Lauro, VALLE DOMÍNGUEZ, Jesús del, PERUCHO, Manuel, BLANCO GUILLERMO, Ignacio, NAVARRO, Matilde, BRUNET, Joan, PINEDA RIU, Marta, FELIUBADALÓ I ELORZA, Maria lídia, CAPELLÁ, G. (gabriel), LÁZARO GARCÍA, Conxi, SERRA ARENAS, Eduard. A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape. _Scientific Reports_. 2017. Vol. 2017, núm. 7, pàgs. 39348. [consulta: 23 de gener de 2026]. ISSN: 2045-2322. [Disponible a: https://hdl.handle.net/2445/125829]