Germline Findings From Tumor-Only Comprehensive Genomic Profiling in the RATIONAL Study: A Missed Opportunity?
Our data confirm the utility of CGP for the identification of potentially germline variants in CSGs, highlighting the importance of reporting LRs in addition to single-nucleotide variants and insertions/deletions. However, our findings also demonstrate a relative lack of knowledge of the implications of germline findings detected on tumor-only sequencing among oncologists and underline the need for specific training in this area.
Authors
- Silvia Novello (ORCID: https://orcid.org/0000-0001-7653-9748)
- Tiziana Pia Latiano (ORCID: https://orcid.org/0000-0001-9730-5668)
- Lorenzo Antonuzzo (ORCID: https://orcid.org/0000-0003-3349-5604)
- Nicola Normanno (ORCID: https://orcid.org/0000-0002-7158-2605)
- Giuseppe Curigliano (ORCID: https://orcid.org/0000-0003-1781-2518)
- Francesca Zanelli
- Antonella De Luca (ORCID: https://orcid.org/0000-0001-5762-447X)
- Rossana Berardi (ORCID: https://orcid.org/0000-0002-9529-2960)
- Michèle Milella (ORCID: https://orcid.org/0000-0002-3826-5237)
- Federica Marmorino (ORCID: https://orcid.org/0000-0001-7725-3434)
- Valentina Guarneri (ORCID: https://orcid.org/0000-0002-2375-8397)
- Carmine Pinto (ORCID: https://orcid.org/0000-0002-3159-5268)
- Ilario Giovanni Rapposelli (ORCID: https://orcid.org/0000-0003-1802-5671)
- Carlo Tondini (ORCID: https://orcid.org/0000-0003-0635-8954)
- Fabrizio Tabbò (ORCID: https://orcid.org/0000-0001-8525-2992)
- Laura Attademo
- Alessandro Morabito (ORCID: https://orcid.org/0000-0002-1319-9608)
- Riziero Esposito Abate (ORCID: https://orcid.org/0000-0001-7621-1320)
- E. Bennicelli (ORCID: https://orcid.org/0000-0002-0008-0026)
- Giacomo Pelizzari (ORCID: https://orcid.org/0000-0003-1224-9906)
- Salvatore Corallo (ORCID: https://orcid.org/0000-0002-6672-0233)
- Giancarlo Pruneri (ORCID: https://orcid.org/0000-0002-7963-7172)
- L Buffoni (ORCID: https://orcid.org/0000-0001-7174-5374)
- S. Tessitore
Institutions
- University of Pisa (IT)
- Marche Polytechnic University (IT)
- University of Padua (IT)
- University of Milan (IT)
- University of Pavia (IT)
- Casa Sollievo della Sofferenza (IT)
- Intensive Care Foundation (AU)
- Foundation Center (US)
- Ospedale Santa Chiara (IT)
- Azienda Sanitaria Unità Locale di Reggio Emilia (IT)
- Azienda Ospedaliera Universitaria Integrata Verona (IT)
- Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IT)
- Ospedale Papa Giovanni XXIII (IT)
- Istituto Oncologico Veneto (IT)
- Ospedale Humanitas Gradenigo (IT)
- Azienda Ospedaliero-Universitaria Careggi (IT)
- Ospedale Santa Maria della Misericordia di Udine (IT)
- Azienda Sanitaria Locale CN2 (IT)
- Istituto Nazionale Tumori IRCCS "Fondazione G. Pascale" (IT)
- Ospedale Policlinico San Martino (IT)
- Policlinico San Matteo Fondazione (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Ospedale San Luigi Gonzaga (IT)
- Fondazione IRCCS Istituto Nazionale dei Tumori (IT)
- Ospedale San Pietro Fatebenefratelli (IT)
- University of Florence (IT)
- European Institute of Oncology (IT)
Publication Details
- Journal
- JCO Precision Oncology
- Published
- 2025-09-01
- DOI
- https://doi.org/10.1200/po-25-00399
- Citations
- 1
- Primary Topic
- Cancer Genomics and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.94