Výsledky vyhledávání - "Roberta Rizza"

Akademický článek

Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis

Autor: Rossana Molinario, Sara Palumbo, Paola Concolino, Sandro Rocchetti, Roberta Rizza, Giovanni Luca Scaglione, Angelo Minucci, Ettore Capoluongo

Publikováno v: Case Reports in Genetics, Vol 2015 (2015)

Cystic fibrosis (CF; OMIM number 219700) is an autosomal recessive disease caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which results in abnormal viscous mucoid secretions in multiple organs and whose ma

Externí odkaz: https://doaj.org/article/7e07b19b269f44a1957a7b0cb5dfb213

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A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1

Autor: Alfredo Pontecorvi, Carmine Bruno, Rosa Maria Paragliola, Paola Concolino, Guido Rindi, Giampaolo Papi, Andrea Corsello, Roberta Rizza

Publikováno v: Molecular Biology Reports

The multiple endocrine neoplasia type 1 (MEN1) is a rare syndrome characterized by the predisposition to developing multiple endocrine and non-endocrine tumors, typically characterized by the association between parathyroid gland hyperplasia or tumor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a683e8e50fa911b92b2c072235025520
http://europepmc.org/articles/PMC7430936

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Abstract P3-05-06: Impact on outcome and response to neoadiuvant chemotherapy in triple negative breast cancer patients and BRCA mutations

Autor: Alessandra Calegari, Giovanni Scambia, Concetta Santonocito, Roberta Rizza, Mariangela Pasqualoni, Emilio Bria, Carmela Paolillo, Ettore Capoluongo, Luisa Carbognin, Ida Paris, Andrea Urbani, Riccardo Masetti

Publikováno v: Cancer Research. 80:P3-05

Background: The effect of germline BRCA mutations on the outcomes of patients with triple-negative breast cancer (TNBC) is not well understood and the expanding access to genetic testing could provide further information about drug sensitivity and pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c3936eef23867c3d00a49e3c93df84e8
https://doi.org/10.1158/1538-7445.sabcs19-p3-05-06

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Spectrum of germline BRCA1 and BRCA2 variants identified in 2351 ovarian and breast cancer patients referring to a reference cancer hospital of Rome

Autor: Carmela Paolillo, Ettore Capoluongo, Concetta Santonocito, Giovanni Scambia, Roberta Rizza, Ida Paris, Laura De Marchis, Giordana Tiberi

Publikováno v: Cancers
Volume 12
Issue 5
Cancers, Vol 12, Iss 1286, p 1286 (2020)

Pathogenic variants (PVs) carriers in BRCA1 or BRCA2 are associated with an elevated lifetime risk of developing breast cancer (BC) and/or ovarian cancer (OC). The prevalence of BRCA1 and BRCA2 germline alterations is extremely variable among differe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f74c9fde19a281a77967679404544c95
http://hdl.handle.net/10807/168235

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Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients

Autor: Gianfranco Gelli, Andrea Urbani, Rossella De Leo, Karl Hackmann, Evelin Schröck, Ettore Capoluongo, Paola Concolino, Roberta Rizza, Angelo Minucci, Ida Paris

In recent years, the number of patients being offered BRCA1/2 testing has changed dramatically. Advances in high-throughput sequencing technology have led many diagnostic laboratories to test next-generation sequencing (NGS)-based platforms as the ma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de8968170f53e90e30dbd10c3303f04d
http://hdl.handle.net/11588/779462

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Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome

Autor: Evelin Schröck, Roberta Rizza, Ettore Capoluongo, Paola Concolino, Cecilia Zuppi, Angelo Minucci, Giovanni Luca Scaglione, Alessandra Costella, Maria De Bonis, Karl Hackmann

Publikováno v: Molecular diagnosistherapy. 21(5)

Introduction Many studies document the involvement of BRCA1/2 gene rearrangements in genetic predisposition to breast and ovarian cancer. Large genomic rearrangements (LGRs) of BRCA1 account for 0-27% of all disease-causing mutations in various popul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9db1669556aa1b7f04f92e82fafeec08
https://pubmed.ncbi.nlm.nih.gov/28620890

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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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