Alterations in homologous recombination repair genes in prostate cancer brain metastases

Autor: Antonio Rodriguez-Calero, John Gallon, Dilara Akhoundova, Sina Maletti, Alison Ferguson, Joanna Cyrta, Ursula Amstutz, Andrea Garofoli, Viola Paradiso, Scott A. Tomlins, Ekkehard Hewer, Vera Genitsch, Achim Fleischmann, Erik Vassella, Elisabeth J. Rushing, Rainer Grobholz, Ingeborg Fischer, Wolfram Jochum, Gieri Cathomas, Adeboye O. Osunkoya, Lukas Bubendorf, Holger Moch, George Thalmann, Charlotte K. Y. Ng, Silke Gillessen, Salvatore Piscuoglio, Mark A. Rubin

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-10 (2022)

The diagnosis of prostate cancer brain metastasis (PCBM) has increased. Here, the authors investigate the landscape of somatic genetic alterations in brain metastases in a PCBM cohort of 51 patients with non-synchronous matched primary samples availa

Externí odkaz: https://doaj.org/article/42966ddd44de4ed4a87861f3d4c3176c

Patient-derived xenografts and organoids model therapy response in prostate cancer

Autor: Sofia Karkampouna, Federico La Manna, Andrej Benjak, Mirjam Kiener, Marta De Menna, Eugenio Zoni, Joël Grosjean, Irena Klima, Andrea Garofoli, Marco Bolis, Arianna Vallerga, Jean-Philippe Theurillat, Maria R. De Filippo, Vera Genitsch, David Keller, Tijmen H. Booij, Christian U. Stirnimann, Kenneth Eng, Andrea Sboner, Charlotte K. Y. Ng, Salvatore Piscuoglio, Peter C. Gray, Martin Spahn, Mark A. Rubin, George N. Thalmann, Marianna Kruithof-de Julio

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

To date, patients still succumb to cancer, due to tumors not responding to therapy or ultimately acquiring resistance. Here the authors show that by exploiting patient derived organoids and a treatment-naïve patient derived xenograft, patient therap

Externí odkaz: https://doaj.org/article/74f8126482f64e7aa57d9156cdf767c0

Data Management Plan 2

Autor: Andrea Garofoli, Robert Stanton, Tabea Wiedmer, Ulrich Goldmann, Barbara Steurer, Evandro Ferrada, Alvaro Ingles-Prieto

Updated version of DMP at midterm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::32d8977eddc9d37bab9c2fe573d43c46

PipeIT2: Somatic Variant Calling Workflow for Ion Torrent Sequencing Data

Autor: Andrea, Garofoli, Désirée, Schnidrig, Charlotte K Y, Ng

Publikováno v: Methods in molecular biology (Clifton, N.J.). 2493

The detection of somatic genetic variants forms the cornerstone of precision oncology. Molecular diagnostics laboratories require economical and rapid protocols to generate accurate variant calls for clinical purposes. The Ion Torrent sequencing plat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f06d258fdb6f6be397db8fb5b91fe42d
https://pubmed.ncbi.nlm.nih.gov/35751816

PipeIT2: A tumor-only somatic variant calling workflow for molecular diagnostic Ion Torrent sequencing data

Autor: Desiree Schnidrig, Andrea Garofoli, Andrej Benjak, Gunnar Rätsch, Mark A. Rubin, Salvatore Piscuoglio, Charlotte K.Y. Ng

Publikováno v: Genomics, 115 (2)
Schnidrig, Desiree; Garofoli, Andrea; Benjak, Andrej; Rätsch, Gunnar; Rubin, Mark A; Piscuoglio, Salvatore; Ng, Charlotte K Y (2023). PipeIT2: A tumor-only somatic variant calling workflow for molecular diagnostic ion torrent sequencing data. Genomics, 115(2), p. 110587. Elsevier 10.1016/j.ygeno.2023.110587

Precision oncology relies on the accurate identification of somatic mutations in cancer patients. While the sequencing of the tumoral tissue is frequently part of routine clinical care, the healthy counterparts are rarely sequenced. We previously pub

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::938183845eeb9812d5ea9a19a67cc975
https://doi.org/10.1016/j.ygeno.2023.110587