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Pitfalls in identifying intronic germline pathogenic variants by comprehensive cancer genomic profiling: technical limitations or biased clinical/diagnostic utility?

Authors

  • Maria De Bonis Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, ItalyGenomics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy PubMed articlesGoogle scholar articles
  • Camilla Nero Department of Woman, Child, and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy PubMed articlesGoogle scholar articles
  • Giovanni Scambia Dipartimento Scienze della Salute della Donna e del Bambino, Fondazione Policlinico Universitario A Gemelli IRCCS, Roma, Italy PubMed articlesGoogle scholar articles
  • Nicola Normanno Cell Biology and Biotherapy Unit, Istituto Nazionale Tumori, National Cancer Institute IRCCS Pascale Foundation, Napoli, Italy PubMed articlesGoogle scholar articles
  • Angelo Minucci Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, ItalyGenomics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Angelo Minucci, Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Lazio, Italy; angelo.minucci{at}policlinicogemelli.it

Citation

De Bonis M, Nero C, Scambia G, et al
Pitfalls in identifying intronic germline pathogenic variants by comprehensive cancer genomic profiling: technical limitations or biased clinical/diagnostic utility?
International Journal of Gynecologic Cancer Published Online First: 09 March 2024. doi: 10.1136/ijgc-2024-005382

Publication history

  • Received February 10, 2024
  • Accepted February 27, 2024
  • First published March 9, 2024.

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© IGCS and ESGO 2024. No commercial re-use. See rights and permissions. Published by BMJ.