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

Int J Gynecol Cancer. 2024 May 6;34(5):794-795. doi: 10.1136/ijgc-2024-005382.

Maria De Bonis^{1

2}, Camilla Nero³, Giovanni Scambia⁴, Nicola Normanno⁵, Angelo Minucci^{6

2}

¹ Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.
² Genomics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.
³ Department of Woman, Child, and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.
⁴ Dipartimento Scienze della Salute della Donna e del Bambino, Fondazione Policlinico Universitario A Gemelli IRCCS, Roma, Italy.
⁵ Cell Biology and Biotherapy Unit, Istituto Nazionale Tumori, National Cancer Institute IRCCS Pascale Foundation, Napoli, Italy.
⁶ Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy angelo.minucci@policlinicogemelli.it.

No abstract available

Keywords: BRCA2 Protein; Carcinoma, Ovarian Epithelial; Gynecology.

MeSH terms