A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report.

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Title: A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report.
Authors: Colombo M; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy., Mondini P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy., Minenza E; Department of Medical Oncology, Santa Maria della Misericordia Hospital, Perugia, Italy., Foglia C; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy., Mosconi A; Department of Medical Oncology, Santa Maria della Misericordia Hospital, Perugia, Italy., Molica C; Department of Medical Oncology, Santa Maria della Misericordia Hospital, Perugia, Italy., Pistola L; Department of Medical Oncology, Santa Maria della Misericordia Hospital, Perugia, Italy., Ludovini V; Department of Medical Oncology, Santa Maria della Misericordia Hospital, Perugia, Italy., Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Source: Frontiers in oncology [Front Oncol] 2023 Mar 21; Vol. 13, pp. 1102184. Date of Electronic Publication: 2023 Mar 21 (Print Publication: 2023).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101568867 Publication Model: eCollection Cited Medium: Print ISSN: 2234-943X (Print) Linking ISSN: 2234943X NLM ISO Abbreviation: Front Oncol Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2234-943X
DOI:10.3389/fonc.2023.1102184