Bioinformatics

Proteomic profiling reveals that ESR1 mutations enhance cyclin-dependent kinase signaling
Three quarters of all breast cancers express the estrogen receptor (ER, ESR1 gene), which promotes tumor growth and constitutes a …
Tommaso De Marchi, Chun-Fui Lai, Georgia M. Simmons, Isabella Goldsbrough, Alison Harrod, Thai Lam, Lakjaya Buluwela, Sven Kjellström, Christian Brueffer, Lao H. Saal, Johan Malmström, Simak Ali, Emma Niméus
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Proteomic profiling reveals that ESR1 mutations enhance cyclin-dependent kinase signaling
Digital PCR quantification of ultrahigh ERBB2 copy number identifies poor breast cancer survival after trastuzumab
HER2/ERBB2 evaluation is necessary for treatment decision-making in breast cancer (BC), however current methods have limitations and …
Pei Meng, Hina Dalal, Yilun Chen, Christian Brueffer, Sergii Gladchuk, Miguel Alcaide, Anna Ehinger, Lao H. Saal
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Digital PCR quantification of ultrahigh ERBB2 copy number identifies poor breast cancer survival after trastuzumab
Preoperative ctDNA Levels are Associated with Poor Overall Survival in Patients with Ovarian Cancer
Background/Aim
Circulating tumor DNA (ctDNA), which is shed from cancer cells into the bloodstream, offers a potential minimally …
Arturas Dobilas, Yilun Chen, Christian Brueffer, Pia Leandersson, Lao H. Saal, Christer Borgfeldt
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Preoperative ctDNA Levels are Associated with Poor Overall Survival in Patients with Ovarian Cancer
805P Tumor-informed ctDNA detection as a predictive marker for postoperative residual disease in epithelial ovarian cancer: A feasibility study
Background
Complete tumor resection is the most relevant prognostic factor for overall survival in high grade serous ovarian cancer …
Christoph Grimm, Valentina Paspalj, Magdalena Postl, Lao H. Saal, Christian Brueffer, Nuria Segui Gracia, Miguel Alcaide, Stephan Polterauer, Lucia Oton, Yilun Chen, Gerda Hofstetter, Leonhard Müllauer
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805P Tumor-informed ctDNA detection as a predictive marker for postoperative residual disease in epithelial ovarian cancer: A feasibility study
#898 Tumor-informed ctDNA detection as a marker for postoperative residual disease in epithelial ovarian cancer – results of a feasibility study
Introduction/Background
Complete tumor resection is the most relevant prognostic factor for overall survival in high grade serous …
Magdalena Postl, Valentina Paspalj, Christian Brueffer, Nuria Segui Gracia, Miguel Alcaide, Lucia Oton, Yilun Chen, Lao H. Saal, Gerda Hofstetter, Leonhard Müllauer, Stephan Polterauer, Christoph Grimm
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#898 Tumor-informed ctDNA detection as a marker for postoperative residual disease in epithelial ovarian cancer – results of a feasibility study
Abstract 5710: Detection and monitoring of t(11;14) in liquid biopsies from patients with relapsed/refractory multiple myeloma treated with venetoclax-based regimens
Venetoclax (Ven) is a selective B-cell lymphoma 2 inhibitor being studied in t(11;14)+ relapsed/refractory multiple myeloma (MM). …
Xiaotong Li, Lao H. Saal, Christian Brueffer, Yilun Chen, Johanna Asklin, Saman Alvi, Srinivas Venkatram, Jeremy A. Ross
DOI
Abstract 5710: Detection and monitoring of t(11;14) in liquid biopsies from patients with relapsed/refractory multiple myeloma treated with venetoclax-based regimens
2022-RA-627-ESGO: Preoperative circulating tumor DNA level is associated to poor overall survival in patients with ovarian cancer
Introduction/Background
Circulating tumor DNA (ctDNA), which is shed from tumor cells into the blood, is a promising minimal-invasive …
Arturas Dobilas, Pia Leandersson, Yilun Chen, Miguel Alcaide, Christian Brueffer, Lao H. Saal, Christer Borgfeldt
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PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions
The precisionFDA Truth Challenge V2 aimed to assess the state of the art of variant calling in challenging genomic regions. Starting …
Nathan D. Olson, Justin Wagner, Jennifer McDaniel, Sarah H. Stephens, Samuel T. Westreich, Anish G. Prasanna, Elaine Johanson, Emily Boja, Ezekiel J. Maier, Omar Serang, David Jáspez, José M. Lorenzo-Salazar, Adrián Muñoz Barrera, Luis A. Rubio-Rodríguez, Carlos Flores, Konstantinos Kyriakidis, Andigoni Malousi, Kishwar Shafin, Trevor Pesout, Miten Jain, Benedict Paten, Pi-Chuan Chang, Alexey Kolesnikov, Maria Nattestad, Gunjan Baid, Sidharth Goel, Howard Yang, Andrew Carroll, Robert Eveleigh, Mathieu Bourgey, Guillaume Bourque, Gen Li, ChouXian Ma, LinQi Tang, YuanPing Du, ShaoWei Zhang, Jordi Morata, Raúl Tonda, Genís Parra, Jean-Rémi Trotta, Christian Brueffer, Sinem Demirkaya-Budak, Duygu Kabakci-Zorlu, Deniz Turgut, Özem Kalay, Gungor Budak, Kübra Narcı, Elif Arslan, Richard Brown, Ivan J. Johnson, Alexey Dolgoborodov, Vladimir Semenyuk, Amit Jain, H. Serhat Tetikol, Varun Jain, Mike Ruehle, Bryan Lajoie, Cooper Roddey, Severine Catreux, Rami Mehio, Mian Umair Ahsan, Qian Liu, Kai Wang, Sayed Mohammad Ebrahim Sahraeian, Li Tai Fang, Marghoob Mohiyuddin, Calvin Hung, Chirag Jain, Hanying Feng, Zhipan Li, Luoqi Chen, Fritz J. Sedlazeck, Justin M. Zook
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PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions
Clinical associations of ESR2 (estrogen receptor beta; ERβ) expression across thousands of primary breast tumors
Estrogen receptor alpha (ERα, encoded by ESR1) is a well-characterized transcription factor expressed in more than 75% of breast tumors …
Hina Dalal, Malin Dahlgren, Sergii Gladchuk, Christian Brueffer, Sofia K. Gruvberger-Saal, Lao H. Saal
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Clinical associations of ESR2 (estrogen receptor beta; ERβ) expression across thousands of primary breast tumors
Preexisting Somatic Mutations of Estrogen Receptor Alpha (ESR1) in Early-Stage Primary Breast Cancer
Background
More than three-quarters of primary breast cancers are positive for estrogen receptor alpha (ER; encoded by the gene ESR1), …
Malin Dahlgren, Anthony M. George, Christian Brueffer, Sergii Gladchuk, Yilun Chen, Johan Vallon-Christersson, Cecilia Hegardt, Jari Häkkinen, Lisa Rydén, Martin Malmberg, Christer Larsson, Sofia K. Gruvberger-Saal, Anna Ehinger, Niklas Loman, Åke Borg, Lao H. Saal
DOI PDF Dataset Press Release
Preexisting Somatic Mutations of Estrogen Receptor Alpha (ESR1) in Early-Stage Primary Breast Cancer