Výsledky vyhledávání - "High Resolution melting analysi"

Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis

Autor: Paola Concolino, Giorgia Mazzuccato, Ettore Capoluongo, Anna Fagotti, Giovanni Scambia, Marco D’Indinosante, Lucia Di Nardo, Maria De Bonis, Angelo Minucci, Andrea Urbani

Publikováno v: Molecular Biology Reports. 47:1513-1520

Correct classification of genomic variants causing potentially aberrantsplicing is of utmost importance for patient management, especially in clinically actionable genes such as BRCA1/2.In this article, we report molecular evaluation of the BRCA1 c.4

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79988eb15128f23130bde7dd72869a96
https://doi.org/10.1007/s11033-019-05199-3

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High resolution melting profiles (HRMPs) obtained by magnetic induction cycler (MIC) have been used to monitor the BRCA2 status highlighted by next generation tumor sequencing (NGTS): a combined approach in a diagnostic environment

Autor: Andrea Urbani, Giovanni Scambia, Anna Fagotti, Ettore Capoluongo, Vittoria Carboni, Claudia Marchetti, Giorgia Mazzuccato, Angelo Minucci, Maria De Bonis

Resistance can be the result of secondary tissue variants (STVs), which restore the open reading frame of the germline BRCA allele, producing functional BRCA protein in germline BRCA1/2 (BRCA) pathogenic variant (PV) carriers, treated with platinum-b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c27e035fff51fdc1831b1e1fdf55c2e
http://hdl.handle.net/11588/829906

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High-resolution melting analysis to screen the ST18 gene functional risk variant for pemphigus vulgaris: The occasion to open a debate on its usefulness in clinical setting

Autor: Angelo Minucci, Ettore Capoluongo, Giovanni Di Zenzo, Luca Fania, Cinzia Mazzanti, Giovanni Luca Scaglione, Maria Michela Lavieri, Maria De Bonis, Elisa De Paolis

The ST18 ˗497-65050 T > C polymorphisms (rs17315309) exhibit a very strong association in the pathogenesis of Pemphigus Vulgaris (PV) and could represent a new potential molecular target for the treatment of disease. The present study aimed to estab

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e007558d08a7a208b9f83faa0b7b2552
http://hdl.handle.net/11588/778011

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A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH)

Autor: Ettore Capoluongo, Jacopo Gervasoni, Daniele Cappellani, Giovanni Luca Scaglione, Aniello Primiano, Elisa De Paolis, Giovanni Gambaro, Angelo Minucci, Pietro Manuel Ferraro, Claudio Marcocci, Maria De Bonis

Introduction Loss-of-function mutations in cytochrome P450 family 24 subfamily A member 1 (CYP24A1) gene are associated with Idiopathic Infantile Hypercalcemia (IIH) and adult kidney stone disease. The enzyme deficiency leads to an impaired vitamin D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddb17fdc0032daee6947733b32c6384a
http://hdl.handle.net/11562/998719

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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

Autor: Giovanni Scambia, Ettore Capoluongo, Rossella De Leo, Alessandra Costella, Andrea Urbani, Giorgia Mazzuccato, Anna Fagotti, Paola Concolino, Donatella Guarino, Angelo Minucci, Marco D'Indinosante

Publikováno v: Human Genome Variation
Human Genome Variation, Vol 5, Iss 1, Pp 1-4 (2018)

In a 72-year-old woman with no associated personal or family history of breast and/or ovarian cancers, we identified a novel somatic pathogenic BRCA2 variant (c.18_28delAGAGAGGCCAA, p.Lys6Asnfs*4) using next-generation sequencing (NGS). The variant a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec01c701e7bcc358b893e7052be60e42
http://hdl.handle.net/10807/148814

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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

Autor: Cecilia Zuppi, Giovanni Scambia, Ettore Capoluongo, Flavio Mignone, Maria De Bonis, Giovanni Luca Scaglione, Giulia Canu, Elisa De Paolis, Paola Concolino, Roberta Rizza, Angelo Minucci

Publikováno v: Clinica chimica acta; international journal of clinical chemistry. 470

Aim of the study Evaluation of copy number variation (CNV) in BRCA1/2 genes, due to large genomic rearrangements (LGRs), is a mandatory analysis in hereditary breast and ovarian cancers families, if no pathogenic variants are found by sequencing. LGR

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b8ed2cf432fc98ea41162f802c0bf75
https://pubmed.ncbi.nlm.nih.gov/28465148

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