Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in <i>BRCA1</i> Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay-Reference-Cited by-同舟云学术

Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay

Published:2024-05-31 Issue:6 Volume:44 Page:617-620
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Concolino Paola¹²^ORCID,De Paolis Elisa¹²^ORCID,Rinelli Martina¹²^ORCID,Maneri Giulia¹²^ORCID,Brisighelli Francesca¹²^ORCID,Trozzi Rita³^ORCID,Duranti Simona⁴^ORCID,Giacò Luciano⁵^ORCID,Piane Maria⁶⁷^ORCID,Preziosi Alessia⁵^ORCID,Panfili Arianna⁴^ORCID,Scambia Giovanni³⁸^ORCID,Nero Camilla³^ORCID,De Bonis Maria¹²^ORCID,Minucci Angelo¹²^ORCID

Affiliation:

1. Departmental Unit of Molecular and Genomic Diagnostics, Policlinico Gemelli IRCCS Foundation, Rome, Italy

2. Genomics Research Core Facility, Gemelli Science and Technology Park, Policlinico Gemelli IRCCS Foundation, Rome, Italy

3. Department of Woman, Child and Public Health, Policlinico Gemelli IRCCS Foundation, Rome, Italy

4. Scientific Directorate, Policlinico Gemelli IRCCS Foundation, Rome, Italy

5. Bioinformatics Research Core Facility, Gemelli Science and Technology Park, Policlinico Gemelli IRCCS Foundation, Rome, Italy

6. Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy

7. S. Andrea University Hospital, Rome, Italy

8. Institute of Obstetrics and Gynecology, Catholic University of the Sacred Heart, Rome, Italy

Publisher

Annals of Laboratory Medicine

Link

https://pdf.medrang.co.kr/ALM/2024/044/ALM044-06-617.pdf

Reference9 articles.

1. Three Cases of False-positive Multiplex Ligation-dependent Probe Amplification of BRCA1

2. Integrated genomic analyses of ovarian carcinoma

3. Homologous Recombination Deficiency: Exploiting the Fundamental Vulnerability of Ovarian Cancer

4. A Computational Framework for Comprehensive Genomic Profiling in Solid Cancers: The Analytical Performance of a High-Throughput Assay for Small and Copy Number Variants

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