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. |
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| 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 |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 37025588 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: 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. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Colombo+M%22">Colombo M</searchLink>; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Mondini+P%22">Mondini P</searchLink>; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Minenza+E%22">Minenza E</searchLink>; Department of Medical Oncology, Santa Maria della Misericordia Hospital, Perugia, Italy.<br /><searchLink fieldCode="AU" term="%22Foglia+C%22">Foglia C</searchLink>; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Mosconi+A%22">Mosconi A</searchLink>; Department of Medical Oncology, Santa Maria della Misericordia Hospital, Perugia, Italy.<br /><searchLink fieldCode="AU" term="%22Molica+C%22">Molica C</searchLink>; Department of Medical Oncology, Santa Maria della Misericordia Hospital, Perugia, Italy.<br /><searchLink fieldCode="AU" term="%22Pistola+L%22">Pistola L</searchLink>; Department of Medical Oncology, Santa Maria della Misericordia Hospital, Perugia, Italy.<br /><searchLink fieldCode="AU" term="%22Ludovini+V%22">Ludovini V</searchLink>; Department of Medical Oncology, Santa Maria della Misericordia Hospital, Perugia, Italy.<br /><searchLink fieldCode="AU" term="%22Radice+P%22">Radice P</searchLink>; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101568867%22">Frontiers in oncology</searchLink> [Front Oncol] 2023 Mar 21; Vol. 13, pp. 1102184. <i>Date of Electronic Publication: </i>2023 Mar 21 (<i>Print Publication: </i>2023). – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation]%22">Frontiers Research Foundation] </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101568867 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2234-943X (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%222234943X%22">2234943X </searchLink><i>NLM ISO Abbreviation: </i>Front Oncol <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37025588 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3389/fonc.2023.1102184 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1102184 Titles: – TitleFull: 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. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Colombo M – PersonEntity: Name: NameFull: Mondini P – PersonEntity: Name: NameFull: Minenza E – PersonEntity: Name: NameFull: Foglia C – PersonEntity: Name: NameFull: Mosconi A – PersonEntity: Name: NameFull: Molica C – PersonEntity: Name: NameFull: Pistola L – PersonEntity: Name: NameFull: Ludovini V – PersonEntity: Name: NameFull: Radice P IsPartOfRelationships: – BibEntity: Dates: – D: 21 M: 03 Text: 2023 Mar 21 Type: published Y: 2023 Identifiers: – Type: issn-print Value: 2234-943X Numbering: – Type: volume Value: 13 Titles: – TitleFull: Frontiers in oncology Type: main |
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