Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield.

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Title: Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield.
Authors: Bonamici L; Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, Modena, Italy, unimore.it.; Diagnostic Hematology and Clinical Genomics Unit, Department of Laboratory Medicine and Pathology, Modena University Hospital, Modena, Italy, unimore.it., Artuso L; Diagnostic Hematology and Clinical Genomics Unit, Department of Laboratory Medicine and Pathology, Modena University Hospital, Modena, Italy, unimore.it., Marino M; Diagnostic Hematology and Clinical Genomics Unit, Department of Laboratory Medicine and Pathology, Modena University Hospital, Modena, Italy, unimore.it., Toss A; Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, Modena, Italy, unimore.it.; Oncology Unit, Department of Oncology and Hematology, University Hospital of Modena, Modena, Italy, policlinico.mo.it., Sidoti D; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy, unifi.it., Barbieri E; Oncology Unit, Department of Oncology and Hematology, University Hospital of Modena, Modena, Italy, policlinico.mo.it., Venturelli M; Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, Modena, Italy, unimore.it.; Oncology Unit, Department of Oncology and Hematology, University Hospital of Modena, Modena, Italy, policlinico.mo.it., Marchi I; Oncology Unit, Department of Oncology and Hematology, University Hospital of Modena, Modena, Italy, policlinico.mo.it., Pescucci C; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy, unifi.it., Manfredini R; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy, unimore.it.; Interdepartmental Centre for Stem Cells and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy, unimore.it., Papi L; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy, unifi.it., Dominici M; Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, Modena, Italy, unimore.it.; Oncology Unit, Department of Oncology and Hematology, University Hospital of Modena, Modena, Italy, policlinico.mo.it., Cortesi L; Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, Modena, Italy, unimore.it.; UOC Oncologia, Azienda USL-IRCCS Reggio Emilia, Reggio Emilia, Italy., Tenedini E; Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, Modena, Italy, unimore.it.; Diagnostic Hematology and Clinical Genomics Unit, Department of Laboratory Medicine and Pathology, Modena University Hospital, Modena, Italy, unimore.it., Tagliafico E; Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, Modena, Italy, unimore.it.; Diagnostic Hematology and Clinical Genomics Unit, Department of Laboratory Medicine and Pathology, Modena University Hospital, Modena, Italy, unimore.it.
Source: Human mutation [Hum Mutat] 2026 Jan 03; Vol. 2026, pp. 6601291. Date of Electronic Publication: 2026 Jan 03 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1098-1004
DOI:10.1155/humu/6601291