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Expert Review of Molecular Diagnostics Volume 15, 2015 - Issue 10
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Original Research

Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review

Angelo MinucciLaboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy
,
Giovanni ScambiaDepartment of Obstetrics and Gynecology, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy
,
Concetta SantonocitoLaboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy
,
Paola ConcolinoLaboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy
,
Giulia CanuLaboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy
,
Flavio MignoneDepartment of Science and Innovation Technology (DISIT) University of Piemonte Orientale, Alessandria, Italy
,
Igor SaggeseDepartment of Science and Innovation Technology (DISIT) University of Piemonte Orientale, Alessandria, Italy
,
Donatella GuarinoLaboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy
,
Alessandra CostellaLaboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy
,
Rossana MolinarioLaboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy
,
Maria De BonisLaboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy
,
Gabriella FerrandinaDepartment of Obstetrics and Gynecology, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy
,
Marco PetrilloDepartment of Obstetrics and Gynecology, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy
,
Giovanni Luca ScaglioneLaboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, Italy
&
Ettore CapoluongoLaboratory of Clinical Molecular and Personalized Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University and Foundation Gemelli Hospital, Rome, ItalyCorrespondence[email protected]
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Pages 1383-1403 | Published online: 24 Aug 2015

Citations (28)

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Angelo Minucci, Maria De Bonis, Alessandra Costella, Giovanni Scambia, Giuseppa Scandurra & Ettore Capoluongo. (2016) Multidisciplinary team for elucidation of any new mutation and how this approach can be useful to individualize any genetic result: the case of BRCA2 c.631G>A/c.7008-2A>T genotype. Expert Review of Molecular Diagnostics 16:7, pages 715-717.
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Articles from other publishers (27)

Maria De Bonis, Francesco Mannavola, Lisa Salvatore, Elisa De Paolis, Camilla Nero, Luciano Giacò, Giampaolo Tortora, Felice Giuliante, Andrea Urbani, Giovanni Scambia, Nicola Normanno & Angelo Minucci. (2023) Unexpected finding of a rare pathogenic germline BRCA1 variant in an intrahepatic cholangiocarcinoma using the Oncomine Focus DNA assay: clinical and diagnostic implications. Molecular Biology Reports 50:8, pages 7113-7120.
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Marcella Nunziato, Federica Di Maggio, Matilde Pensabene, Maria Valeria Esposito, Flavio Starnone, Carmine De Angelis, Alessandra Calabrese, Massimiliano D’Aiuto, Gerardo Botti, Sabino De Placido, Valeria D’Argenio & Francesco Salvatore. (2022) Multi-gene panel testing increases germline predisposing mutations’ detection in a cohort of breast/ovarian cancer patients from Southern Italy. Frontiers in Medicine 9.
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Wanda Lattanzi, Cristian Ripoli, Viviana Greco, Marta Barba, Federica Iavarone, Angelo Minucci, Andrea Urbani, Claudio Grassi & Ornella Parolini. (2021) Basic and Preclinical Research for Personalized Medicine. Journal of Personalized Medicine 11:5, pages 354.
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Elisa De Paolis, Antonella Pietragalla, Maria De Bonis, Anna Fagotti, Andrea Urbani, Giovanni Scambia & Angelo Minucci. (2021) The BRCA1 c.788G > T (NM_007294.4) variant in a high grade serous ovarian cancer (HGSOC) patient: foods for thought. Molecular Biology Reports 48:3, pages 2985-2992.
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Angelo Minucci, Giovanni Scambia, Maria De Bonis, Elisa De Paolis, Concetta Santonocito, Anna Fagotti, Ettore Capoluongo, Paola Concolino & Andrea Urbani. (2020) BRCA testing delay during the COVID-19 pandemic: How to act?. Molecular Biology Reports 48:1, pages 983-987.
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Camilla Nero, Francesca Ciccarone, Luca Boldrini, Jacopo Lenkowicz, Ida Paris, Ettore Domenico Capoluongo, Antonia Carla Testa, Anna Fagotti, Vincenzo Valentini & Giovanni Scambia. (2020) Germline BRCA 1-2 status prediction through ovarian ultrasound images radiogenomics: a hypothesis generating study (PROBE study). Scientific Reports 10:1.
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Angelo Minucci, Giovanni Scambia, Concetta Santonocito, Paola Concolino & Andrea Urbani. (2020) BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic. Molecular Biology Reports 47:6, pages 4857-4860.
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Lorena Incorvaia, Daniele Fanale, Giuseppe Badalamenti, Marco Bono, Valentina Calò, Daniela Cancelliere, Marta Castiglia, Alessia Fiorino, Alessia Pivetti, Nadia Barraco, Sofia Cutaia, Antonio Russo & Viviana Bazan. (2020) Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)—Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes. Cancers 12:5, pages 1158.
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A. Minucci, G. Mazzuccato, C. Marchetti, A. Pietragalla, G. Scambia, A. Fagotti & A. Urbani. (2020) Detecting Large Germline Rearrangements of BRCA1 by Next Generation Tumor Sequencing. Molecular Biology 54:3, pages 464-473.
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Angelo Minucci, Giorgia Mazzuccato, Marco D’Indinosante, Lucia Di Nardo, Paola Concolino, Maria De Bonis, Andrea Urbani, Giovanni Scambia, Anna Fagotti & Ettore Capoluongo. (2019) Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis. Molecular Biology Reports 47:2, pages 1513-1520.
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Muscarella, Fabrizio, De Bonis, Mancini, Balsamo, Graziano, Centra, Sparaneo, Trombetta, Bonfitto, Scagliusi, Larizza, Capoluongo & Fazio. (2019) Automated Workflow for Somatic and Germline Next Generation Sequencing Analysis in Routine Clinical Cancer Diagnostics. Cancers 11:11, pages 1691.
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Angelo Minucci, Maurizio Lalle, Rossella De Leo, Giorgia Mazzuccato, Giovanni Scambia, Andrea Urbani, Anna Fagotti, Paola Concolino & Ettore Capoluongo. (2019) Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant. Clinical Biochemistry 63, pages 54-58.
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Maria De Bonis, Angelo Minucci, Giovanni Luca Scaglione, Elisa De Paolis, Gianfranco Zannoni, Giovanni Scambia & Ettore Capoluongo. (2018) Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant. Familial Cancer 18:1, pages 29-35.
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Claudia Marchetti, Rossella De Leo, Angela Musella, Marco D’Indinosante, Ettore Capoluongo, Angelo Minucci, Pierluigi Benedetti Panici, Giovanni Scambia & Anna Fagotti. (2018) BRCA Mutation Status to Personalize Management of Recurrent Ovarian Cancer: A Multicenter Study. Annals of Surgical Oncology 25:12, pages 3701-3708.
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Alessandra Costella, Rossella De Leo, Donatella Guarino, Marco D’Indinosante, Paola Concolino, Giorgia Mazzuccato, Andrea Urbani, Giovanni Scambia, Ettore Capoluongo, Anna Fagotti & Angelo Minucci. (2018) High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report. Human Genome Variation 5:1.
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Angelo Minucci, Paola Concolino, Maria De Bonis, Alessandra Costella, Ida Paris, Giovanni Scambia & Ettore Capoluongo. (2018) Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome. Human Genome Variation 5:1.
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Ettore Capoluongo, Giovanni Scambia & Jean-Marc Nabholtz. (2018) Main implications related to the switch to BRCA 1/2 tumor testing in ovarian cancer patients: a proposal of a consensus . Oncotarget 9:28, pages 19463-19468.
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Giovanni Scaglione, Paola Concolino, Maria De Bonis, Elisa De Paolis, Angelo Minucci, Gabriella Ferrandina, Giovanni Scambia & Ettore Capoluongo. (2018) A Whole Germline BRCA2 Gene Deletion: How to Learn from CNV In Silico Analysis. International Journal of Molecular Sciences 19:4, pages 961.
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Concetta Santonocito, Margherita Scapaticci, Donatella Guarino, Andrea Bartolini, Angelo Minucci, Paola Concolino, Giovanni Scambia, Ida Paris & Ettore Capoluongo. (2017) Identification of twenty-nine novel germline unclassified variants of BRCA1 and BRCA2 genes in 1400 Italian individuals. The Breast 36, pages 74-78.
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Paola Concolino, Roberta Rizza, Karl Hackmann, Angelo Minucci, Giovanni Luca Scaglione, Maria De Bonis, Alessandra Costella, Cecilia Zuppi, Evelin Schrock & Ettore Capoluongo. (2017) Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome. Molecular Diagnosis & Therapy 21:5, pages 539-545.
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Marco Petrillo, Claudia Marchetti, Rossella De Leo, Angela Musella, Ettore Capoluongo, Ida Paris, Pierluigi Benedetti Panici, Giovanni Scambia & Anna Fagotti. (2017) BRCA mutational status, initial disease presentation, and clinical outcome in high-grade serous advanced ovarian cancer: a multicenter study. American Journal of Obstetrics and Gynecology 217:3, pages 334.e1-334.e9.
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Angelo Minucci, Elisa De Paolis, Paola Concolino, Maria De Bonis, Roberta Rizza, Giulia Canu, Giovanni Luca Scaglione, Flavio Mignone, Giovanni Scambia, Cecilia Zuppi & Ettore Capoluongo. (2017) Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory. Clinica Chimica Acta 470, pages 83-92.
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Paola Concolino, Roberta Rizza, Karl Hackmann, Ida Paris, Angelo Minucci, Elisa De Paolis, Giovanni Scambia, Cecilia Zuppi, Evelin Schrock & Ettore Capoluongo. (2017) Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome. Breast Cancer Research and Treatment 164:2, pages 497-503.
Crossref
Angelo Minucci, Maria De Bonis, Elisa De Paolis, Leonarda Gentile, Concetta Santonocito, Paola Concolino, Flavio Mignone & Ettore Capoluongo. (2017) High Resolution Melting Analysis is Very Useful to Identify Breast Cancer Type 1 Susceptibility Protein (BRCA1) c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA. Molecular Diagnosis & Therapy 21:2, pages 217-223.
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Cindy Badoer, Céline Garrec, Dirk Goossens, Gillian Ellison, John Mills, Mélina Dzial, Hakim El Housni, Sarah Berwouts, Paola Concolino, Virginie Guibert-Le Guevellou, Capucine Delnatte, Jurgen Del Favero, Ettore Capoluongo & Stéphane Bézieau. (2016) Performance of multiplicom's BRCA MASTR Dx kit on the detection of <i>BRCA1</i> and <i>BRCA2</i> mutations in fresh frozen ovarian and breast tumor samples. Oncotarget 7:49.
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Brunella Pilato, Rosamaria Pinto, Simona De Summa, Daniela Petriella, Rosanna Lacalamita, Katia Danza, Angelo Paradiso & Stefania Tommasi. (2016) BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report . Genes, Chromosomes and Cancer 55:10, pages 803-813.
Crossref
Ettore Capoluongo. (2016) BRCA to the future: towards best testing practice in the era of personalised healthcare. European Journal of Human Genetics 24:S1, pages S1-S2.
Crossref

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