Search Results - "Coppa, Anna"
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Molecular profiling of male breast cancer by multigene panel testing: Implications for precision oncology
Published in Frontiers in oncology (06-01-2023)“…Compared with breast cancer (BC) in women, BC in men is a rare disease with genetic and molecular peculiarities. Therapeutic approaches for male BC (MBC) are…”
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MRE11 inhibition highlights a replication stress-dependent vulnerability of MYCN-driven tumors
Published in Cell death & disease (30-08-2018)“…MRE11 is a component of the MRE11/RAD50/NBS1 (MRN) complex, whose activity is essential to control faithful DNA replication and to prevent accumulation of…”
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Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy
Published in Frontiers in oncology (04-12-2018)“…Inherited mutations in , and, mainly, genes are associated with increased risk of male breast cancer (MBC). Mutations in and genes may also increase MBC risk…”
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Clinical Multigene Panel Sequencing Identifies Distinct Mutational Association Patterns in Metastatic Colorectal Cancer
Published in Frontiers in oncology (07-05-2020)“…Extensive molecular characterization of human colorectal cancer (CRC) via Next Generation Sequencing (NGS) indicated that genetic or epigenetic dysregulation…”
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Optimizing the identification of risk‐relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families
Published in Cancer medicine (Malden, MA) (01-01-2018)“…The introduction of multigene panel testing for hereditary breast/ovarian cancer screening has greatly improved efficiency, speed, and costs. However, its…”
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Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer
Published in PeerJ (San Francisco, CA) (22-04-2019)“…Conventional methods used to identify and germline mutations in hereditary cancers, such as Sanger sequencing/multiplex ligation-dependent probe amplification…”
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PRDX1 and PRDX6 are repressed in papillary thyroid carcinomas via BRAF V600E-dependent and -independent mechanisms
Published in International journal of oncology (01-02-2014)“…Many clinical studies highlight the dichotomous role of PRDXs in human cancers, where they can exhibit strong tumor-suppressive or tumor-promoting functions…”
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A novel BRCA2 splice variant identified in a young woman
Published in Molecular genetics & genomic medicine (01-12-2020)“…Background BRCA1/2 VUSs represent an important clinical issue in risk assessment for the breast/ovarian cancer families (HBOC) families. Among them, some…”
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NSD1 Mutations and Pediatric High-Grade Gliomas: A Comparative Genomic Study in Primary and Recurrent Tumors
Published in Diagnostics (Basel) (27-12-2022)“…Pediatric high-grade gliomas represent a heterogeneous group of tumors with a wide variety of molecular features. We performed whole exome sequencing and…”
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Identification of novel BRCA1 large genomic rearrangements by a computational algorithm of amplicon-based Next-Generation Sequencing data
Published in PeerJ (San Francisco, CA) (15-11-2019)“…Genetic testing for germline mutations in hereditary breast/ovarian cancer patients requires screening for single nucleotide variants, small…”
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Role of reduced expression of SMAD4 in papillary thyroid carcinoma
Published in Journal of molecular endocrinology (01-10-2010)“…It has been demonstrated that transforming growth factor-β (TGFβ) and other members of TGFβ superfamily play an important role in thyroid proliferative…”
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Evaluation of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk
Published in Endocrine Connections (01-08-2019)“…Breast cancer in men is a rare and still poorly characterized disease. Inherited mutations in BRCA1, BRCA2 and PALB2 genes, as well as common polymorphisms,…”
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EGF and TGF-β1 Effects on Thyroid Function
Published in Journal of Thyroid Research (2011)“…Normal epithelial thyroid cells in culture are inhibited by TGF-β1. Instead, transformed thyroid cell lines are frequently resistant to its growth inhibitory…”
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HE4 in the differential diagnosis of a pelvic mass: a case report
Published in International journal of molecular sciences (18-01-2011)“…Neoplasms of the ovary present an increasing challenge to the physician. Neoplastic ovarian cysts can resemble endometriomas in ultrasound imaging and need to…”
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EGF and TGF- 1 Effects on Thyroid Function
Published in Journal of thyroid research (2011)“…Normal epithelial thyroid cells in culture are inhibited by TGF-1. Instead, transformed thyroid cell lines are frequently resistant to its growth inhibitory…”
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The role of peroxiredoxins in cancer
Published in Molecular and clinical oncology (01-02-2017)“…Peroxiredoxins (PRDXs) are a ubiquitously expressed family of small (22-27 kDa) non-seleno peroxidases that catalyze the peroxide reduction of H O , organic…”
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Male breast cancer risk associated with pathogenic variants in genes other than BRCA1/2: an Italian case-control study
Published in European journal of cancer (1990) (01-07-2023)“…Germline pathogenic variants (PVs) in BRCA1/2 genes are associated with breast cancer (BC) risk in both women and men. Multigene panel testing is being…”
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A combination of PARP and CHK1 inhibitors efficiently antagonizes MYCN-driven tumors
Published in Oncogene (28-10-2021)“…MYCN drives aggressive behavior and refractoriness to chemotherapy, in several tumors. Since MYCN inactivation in clinical settings is not achievable,…”
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CTNNB1 p.L31P mutation in an ovarian endometrioid carcinoma with synchronous uterine endometrioid carcinoma
Published in Pathology, research and practice (01-12-2020)“…[Display omitted] We performed next generation sequencing of DNA extracted from the neoplastic tissues obtained from a patient who underwent surgery for a…”
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A gene dosage‐dependent effect unveils NBS1 as both a haploinsufficient tumour suppressor and an essential gene for SHH‐medulloblastoma
Published in Neuropathology and applied neurobiology (01-10-2022)“…Aims Inherited or somatic mutations in the MRE11, RAD50 and NBN genes increase the incidence of tumours, including medulloblastoma (MB). On the other hand,…”
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