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

Autor: De Bonis M; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.; Genomics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy., Nero C; Department of Woman, Child, and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy., Scambia G; Dipartimento Scienze della Salute della Donna e del Bambino, Fondazione Policlinico Universitario A Gemelli IRCCS, Roma, Italy., Normanno N; Cell Biology and Biotherapy Unit, Istituto Nazionale Tumori, National Cancer Institute IRCCS Pascale Foundation, Napoli, Italy., Minucci A; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy angelo.minucci@policlinicogemelli.it.; Genomics Research Core Facility, Gemelli Science and Technology Park (GSTeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.
Jazyk: angličtina
Zdroj: International journal of gynecological cancer : official journal of the International Gynecological Cancer Society [Int J Gynecol Cancer] 2024 May 06; Vol. 34 (5), pp. 794-795. Date of Electronic Publication: 2024 May 06.
DOI: 10.1136/ijgc-2024-005382
Abstrakt: Competing Interests: Competing interests: None declared.
Databáze: MEDLINE