Reliability and reproducibility among different platforms for tumour BRCA testing in ovarian cancer: a study of the Italian NGS Network. Fumagalli, C., Guerini-Rocco, E., Buttitta, F., Iapicca, P., You, W., Mauri, M., Felicioni, L., Troncone, G., Malapelle, U., Scarpa, A., Zamboni, G., Calistri, D., Barberis, M., & Marchetti, A. Journal of Clinical Pathology, October, 2020. Publisher: BMJ Publishing Group Section: Short report![Reliability and reproducibility among different platforms for tumour BRCA testing in ovarian cancer: a study of the Italian NGS Network [link]](https://bibbase.org/img/filetypes/link.svg "link")
Paper doi abstract bibtex 2 downloads Introduction BRCA tumour testing is a crucial tool for personalised therapy of patients with ovarian cancer. Since different next-generation sequencing (NGS) platforms and BRCA panels are available, the NGS Italian Network proposed to assess the robustness of different technologies. Methods Six centres, using four different technologies, provided raw data of 284 cases, including 75 cases with pathogenic/likely pathogenic variants, for a revision blindly performed by an external bioinformatic platform. Results The third-party revision assessed that all the 284 raw data reached good quality parameters. The variant calling analysis confirmed all the 75 pathogenic/likely pathogenic variants, including challenging variants, achieving a concordance rate of 100% regardless of the panel, instrument and bioinformatic pipeline adopted. No additional variants were identified in the reanalysis of a subset of 41 cases. Conclusions BRCA tumour testing performed with different technologies in different centres, may achieve the realibility and reproducibility required for clinical diagnostic procedures.
@article{fumagalli_reliability_2020,
title = {Reliability and reproducibility among different platforms for tumour {BRCA} testing in ovarian cancer: a study of the {Italian} {NGS} {Network}},
copyright = {© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.},
issn = {0021-9746, 1472-4146},
shorttitle = {Reliability and reproducibility among different platforms for tumour {BRCA} testing in ovarian cancer},
url = {https://jcp.bmj.com/content/early/2020/10/05/jclinpath-2020-206800},
doi = {10.1136/jclinpath-2020-206800},
abstract = {Introduction BRCA tumour testing is a crucial tool for personalised therapy of patients with ovarian cancer. Since different next-generation sequencing (NGS) platforms and BRCA panels are available, the NGS Italian Network proposed to assess the robustness of different technologies.
Methods Six centres, using four different technologies, provided raw data of 284 cases, including 75 cases with pathogenic/likely pathogenic variants, for a revision blindly performed by an external bioinformatic platform.
Results The third-party revision assessed that all the 284 raw data reached good quality parameters. The variant calling analysis confirmed all the 75 pathogenic/likely pathogenic variants, including challenging variants, achieving a concordance rate of 100\% regardless of the panel, instrument and bioinformatic pipeline adopted. No additional variants were identified in the reanalysis of a subset of 41 cases.
Conclusions BRCA tumour testing performed with different technologies in different centres, may achieve the realibility and reproducibility required for clinical diagnostic procedures.},
language = {en},
urldate = {2020-10-07},
journal = {Journal of Clinical Pathology},
author = {Fumagalli, Caterina and Guerini-Rocco, Elena and Buttitta, Fiamma and Iapicca, Pierluigi and You, Wenqi and Mauri, Michela and Felicioni, Lara and Troncone, Giancarlo and Malapelle, Umberto and Scarpa, Aldo and Zamboni, Giuseppe and Calistri, Daniele and Barberis, Massimo and Marchetti, Antonio},
month = oct,
year = {2020},
pmid = {33020174},
note = {Publisher: BMJ Publishing Group
Section: Short report},
keywords = {BRCA-related cancer, BRCA1/2, Benchmark, SOPHiA DDM, molecular, molecular biology, ovarian neoplasms, pathology},
}
Downloads: 2
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Published by BMJ.","issn":"0021-9746, 1472-4146","shorttitle":"Reliability and reproducibility among different platforms for tumour BRCA testing in ovarian cancer","url":"https://jcp.bmj.com/content/early/2020/10/05/jclinpath-2020-206800","doi":"10.1136/jclinpath-2020-206800","abstract":"Introduction BRCA tumour testing is a crucial tool for personalised therapy of patients with ovarian cancer. Since different next-generation sequencing (NGS) platforms and BRCA panels are available, the NGS Italian Network proposed to assess the robustness of different technologies. Methods Six centres, using four different technologies, provided raw data of 284 cases, including 75 cases with pathogenic/likely pathogenic variants, for a revision blindly performed by an external bioinformatic platform. Results The third-party revision assessed that all the 284 raw data reached good quality parameters. The variant calling analysis confirmed all the 75 pathogenic/likely pathogenic variants, including challenging variants, achieving a concordance rate of 100% regardless of the panel, instrument and bioinformatic pipeline adopted. No additional variants were identified in the reanalysis of a subset of 41 cases. Conclusions BRCA tumour testing performed with different technologies in different centres, may achieve the realibility and reproducibility required for clinical diagnostic procedures.","language":"en","urldate":"2020-10-07","journal":"Journal of Clinical Pathology","author":[{"propositions":[],"lastnames":["Fumagalli"],"firstnames":["Caterina"],"suffixes":[]},{"propositions":[],"lastnames":["Guerini-Rocco"],"firstnames":["Elena"],"suffixes":[]},{"propositions":[],"lastnames":["Buttitta"],"firstnames":["Fiamma"],"suffixes":[]},{"propositions":[],"lastnames":["Iapicca"],"firstnames":["Pierluigi"],"suffixes":[]},{"propositions":[],"lastnames":["You"],"firstnames":["Wenqi"],"suffixes":[]},{"propositions":[],"lastnames":["Mauri"],"firstnames":["Michela"],"suffixes":[]},{"propositions":[],"lastnames":["Felicioni"],"firstnames":["Lara"],"suffixes":[]},{"propositions":[],"lastnames":["Troncone"],"firstnames":["Giancarlo"],"suffixes":[]},{"propositions":[],"lastnames":["Malapelle"],"firstnames":["Umberto"],"suffixes":[]},{"propositions":[],"lastnames":["Scarpa"],"firstnames":["Aldo"],"suffixes":[]},{"propositions":[],"lastnames":["Zamboni"],"firstnames":["Giuseppe"],"suffixes":[]},{"propositions":[],"lastnames":["Calistri"],"firstnames":["Daniele"],"suffixes":[]},{"propositions":[],"lastnames":["Barberis"],"firstnames":["Massimo"],"suffixes":[]},{"propositions":[],"lastnames":["Marchetti"],"firstnames":["Antonio"],"suffixes":[]}],"month":"October","year":"2020","pmid":"33020174","note":"Publisher: BMJ Publishing Group Section: Short report","keywords":"BRCA-related cancer, BRCA1/2, Benchmark, SOPHiA DDM, molecular, molecular biology, ovarian neoplasms, pathology","bibtex":"@article{fumagalli_reliability_2020,\n\ttitle = {Reliability and reproducibility among different platforms for tumour {BRCA} testing in ovarian cancer: a study of the {Italian} {NGS} {Network}},\n\tcopyright = {© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.},\n\tissn = {0021-9746, 1472-4146},\n\tshorttitle = {Reliability and reproducibility among different platforms for tumour {BRCA} testing in ovarian cancer},\n\turl = {https://jcp.bmj.com/content/early/2020/10/05/jclinpath-2020-206800},\n\tdoi = {10.1136/jclinpath-2020-206800},\n\tabstract = {Introduction BRCA tumour testing is a crucial tool for personalised therapy of patients with ovarian cancer. Since different next-generation sequencing (NGS) platforms and BRCA panels are available, the NGS Italian Network proposed to assess the robustness of different technologies.\nMethods Six centres, using four different technologies, provided raw data of 284 cases, including 75 cases with pathogenic/likely pathogenic variants, for a revision blindly performed by an external bioinformatic platform.\nResults The third-party revision assessed that all the 284 raw data reached good quality parameters. The variant calling analysis confirmed all the 75 pathogenic/likely pathogenic variants, including challenging variants, achieving a concordance rate of 100\\% regardless of the panel, instrument and bioinformatic pipeline adopted. No additional variants were identified in the reanalysis of a subset of 41 cases.\nConclusions BRCA tumour testing performed with different technologies in different centres, may achieve the realibility and reproducibility required for clinical diagnostic procedures.},\n\tlanguage = {en},\n\turldate = {2020-10-07},\n\tjournal = {Journal of Clinical Pathology},\n\tauthor = {Fumagalli, Caterina and Guerini-Rocco, Elena and Buttitta, Fiamma and Iapicca, Pierluigi and You, Wenqi and Mauri, Michela and Felicioni, Lara and Troncone, Giancarlo and Malapelle, Umberto and Scarpa, Aldo and Zamboni, Giuseppe and Calistri, Daniele and Barberis, Massimo and Marchetti, Antonio},\n\tmonth = oct,\n\tyear = {2020},\n\tpmid = {33020174},\n\tnote = {Publisher: BMJ Publishing Group\nSection: Short report},\n\tkeywords = {BRCA-related cancer, BRCA1/2, Benchmark, SOPHiA DDM, molecular, molecular biology, ovarian neoplasms, pathology},\n}\n\n\n\n\n\n\n\n\n\n\n\n","author_short":["Fumagalli, C.","Guerini-Rocco, E.","Buttitta, F.","Iapicca, P.","You, W.","Mauri, M.","Felicioni, L.","Troncone, G.","Malapelle, U.","Scarpa, A.","Zamboni, G.","Calistri, D.","Barberis, M.","Marchetti, A."],"key":"fumagalli_reliability_2020","id":"fumagalli_reliability_2020","bibbaseid":"fumagalli-guerinirocco-buttitta-iapicca-you-mauri-felicioni-troncone-etal-reliabilityandreproducibilityamongdifferentplatformsfortumourbrcatestinginovariancancerastudyoftheitalianngsnetwork-2020","role":"author","urls":{"Paper":"https://jcp.bmj.com/content/early/2020/10/05/jclinpath-2020-206800"},"keyword":["BRCA-related cancer","BRCA1/2","Benchmark","SOPHiA DDM","molecular","molecular biology","ovarian neoplasms","pathology"],"metadata":{"authorlinks":{}},"downloads":2},"bibtype":"article","biburl":"https://bibbase.org/zotero/SOPHiAGENETICS","dataSources":["Pcpsxmwz8uxXtL843","vPYMrJTaJTbhFPPb4"],"keywords":["brca-related cancer","brca1/2","benchmark","sophia ddm","molecular","molecular biology","ovarian neoplasms","pathology"],"search_terms":["reliability","reproducibility","different","platforms","tumour","brca","testing","ovarian","cancer","study","italian","ngs","network","fumagalli","guerini-rocco","buttitta","iapicca","you","mauri","felicioni","troncone","malapelle","scarpa","zamboni","calistri","barberis","marchetti"],"title":"Reliability and reproducibility among different platforms for tumour BRCA testing in ovarian cancer: a study of the Italian NGS Network","year":2020,"downloads":2}