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Title: A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape
Author: Castellanos, Elisabeth
Gel, 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
Keywords: Càncer
Cribratge genètic
Genetic screening
Issue Date: 4-Jan-2017
Publisher: Nature Publishing Group
Abstract: 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.
Note: Reproducció del document publicat a:
It is part of: Scientific Reports, 2017, vol. 2017, num. 7, p. 39348
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ISSN: 2045-2322
Appears in Collections:Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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