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

Minucci, Angelo; Scambia, Giovanni; Santonocito, Concetta; Concolino, Paola; Canu, Giulia; Mignone, Flavio; Saggese, Igor; Guarino, Donatella; Costella, Alessandra; Molinario, Rossana; Bonis, Maria De; Petrillo, Marco; Scaglione, Giovanni Luca; Capoluongo, Ettore

doi:10.1586/14737159.2015.1081059

Cited by 31 publications

(19 citation statements)

References 41 publications

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“…In particular, our laboratory (Molecular and Genomics Diagnostics Unit, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS) remodulated its priorities by temporarily interrupting most of the molecular tests and guaranteeing only those considered "urgent" and not postponable. Herein, we report changes regarding the execution of the germline BRCA (gBRCA ) testing, during the COVID-19 outbreak in March 2020, in a referral center for the gBRCA testing [2][3][4][5].…”

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confidence: 99%

BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic

et al. 2020

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The first person-to-person transmission of the 2019-novel coronavirus in Italy on 21 February 2020 led to an infection chain that represents one of the largest known COVID-19 outbreaks outside Asia. Hospitals have been forced to reorganized their units in response to prepare for an unforeseen healthcare emergency. In this context, our laboratory (Molecular and Genomic Diagnostics Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS) re-modulated its priorities by temporarily interrupting most of the molecular tests guaranteeing only those considered "urgent" and not postponable. In particular, this paper details changes regarding the execution of germline BRCA (gBRCA ) testing in our laboratory. A substantial reduction in gBRCA testing (about 60%) compared to the first 2 months of the current year was registered, but the requests have not been reset. The requesting physicians were mainly gynaecologists and oncologists. These evidences further emphasize the new era of gBRCA testing in the management of cancer patients and confirms definitively the integration of gBRCA testing/ Next Generation Sequencing (NGS) into clinical oncology. Finally, a re-organization of gBRCA testing in our Unit, mainly related to delayed and reduced arrival of tests was necessary, ensuring, however, a high-quality standard and reliability, mandatory for gBRCA testing in a clinical setting.

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Section: Introductionmentioning

confidence: 99%

BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic

et al. 2020

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“…The BRCA status obtained by MPS 1 and MLPA (Multiplex Ligation-dependent Probe Amplification) 2 , 3 did not reveal any known PVs. However, the patient carried a BRCA1 variant in exon 17 ( c.5073 A > T; NCBI Reference Sequence: NM_007294.3; GRCh37 ; Fig.…”

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Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome

et al. 2018

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Extensive molecular screening of the BRCA1/2 (BRCA) genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novel BRCA1 synonymous variant discovered in a family with hereditary ovarian cancer (HOC) syndrome. We showed that the BRCA1 c.5073 A > T variant might play a pathogenic role in HOC syndrome in this family.

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“…BRCA testing of formalin-fixed paraffin-embedded tumour samples also presents a number of additional challenges to the diagnostics laboratory, including limited quantity and quality of extracted DNA, and artefactual sequence alterations. [20][21][22][23] Genetic counselling is integral to the BRCA testing process. In the final review, Professor Nicoline Hoogerbrugge and Dr Marjolijn Jongmans examine best practices for genetic counselling and BRCA testing, exploring the challenges facing current practice and looking at adapted models of genetic counselling.…”

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confidence: 99%

BRCA to the future: towards best testing practice in the era of personalised healthcare

Capoluongo

2016

Eur J Hum Genet

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The year 2014 marked the twentieth anniversary of the discovery of the breast cancer susceptibility gene, BRCA1. 1,2 Since this discovery, our understanding of pathogenic BRCA variants and the associated increase in lifetime cancer risks has advanced significantly. 3,4 National guidelines have been developed to help clinicians identify patients with an increased risk of pathogenic BRCA mutations, and genetic counselling for risk assessment is now a routine practice. 5,6 The evolution of genetic counselling models has placed increasing importance on the use of multidisciplinary health-care teams, including medical geneticists, genetic counsellors, gynaecologists, surgeons, radiotherapists, medical oncologists and all other professionals involved in a patient's management. There has also been a surge of technological advances and new strategies allowing for the rapid turnaround of BRCA1 and BRCA2 mutation testing. In addition, evaluation of BRCA and other BRCA-like deleterious mutations as potentially actionable tumour targets are underway, such as the development of poly(ADP)-ribose polymerase (PARP) inhibitors in classes four or five BRCA mutation-positive cancers. [7][8][9] The present supplement contains review articles based on presentations from a scientific symposium focused on the evolving BRCA testing landscape (BRCA to the future: towards best testing practice in the era of personalised healthcare) held at the European Human Genetics Conference in Milan, June 2014.In the first review, Professor Dominique Stoppa-Lyonnet discusses the biological effects and clinical implications of pathogenic BRCA mutations. BRCA1 and BRCA2 have key roles in the repair of DNA double-strand breaks via the mechanism of homologous recombination (HR) and ensure genome stability. 10-13 Germline deleterious mutations in BRCA1 or BRCA2 are associated with elevated risk of developing breast and/or ovarian cancer, sometimes with a genotype-phenotype correlation. 3,4,14 BRCA pathogenic mutationpositive ovarian or breast cancers are susceptible to inhibitors of additional DNA damage repair pathways, such as PARP inhibitors. [7][8][9] As the presence of actionable BRCA mutations in patients with breast and/or ovarian cancer becomes increasingly important in clinical management decisions, there is increasing support to expand the screening criteria for BRCA mutation testing, including testing for pathogenic mutations in other HR-deficiency genes.In his review on BRCA testing, Dr Andrew Wallace covers the challenges of BRCA testing from the perspective of a diagnostic laboratory. Demand for BRCA testing is steadily increasing, placing a strain on diagnostics laboratories, particularly in those offering rapid genetic testing at the point of diagnosis. Increasingly, diagnostic laboratories are adopting next-generation sequencing (NGS) technology for BRCA testing, which offers the potential of fast, scalable, costefficient and comprehensive sequencing. [15][16][17][18][19] However, the choice and complexity surrounding NGS means that adopt...

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

Cited by 31 publications

References 41 publications

BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic

BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic

Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome

BRCA to the future: towards best testing practice in the era of personalised healthcare

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