Real world data analysis of next generation sequencing and protein expression in metastatic breast cancer patients.

Real world data analysis of next generation sequencing and protein expression in metastatic breast cancer patients.

Publication date: Jun 26, 2020

Next generation sequencing (NGS) together with protein expression analysis is back bone of molecularly targeted therapy in precision medicine. Our retrospective study shows our experience with NGS of 324 genes in combination with protein expression in patients with advanced breast cancer (aBC). The primary purpose was to analyze the prevalence of individual genetic alterations combined with protein expression to define potential targets for an individualized therapy. Between April 2018 and September 2019, 41 patients with aBC were offered a NGS test. The test was used to detect clinically relevant genomic alterations and to support further targeted therapy decisions. Hormone receptors, ERBB2 of tumors and PD-L1 was stained by immunohistochemistry. The data was recorded up to September 2019. After prior consent 41 results were available for further analysis. The most common BC subtypes were triple-negative (n?=?16), HR+/ERBB2- (n?=?15), and ERBB2+ (n?=?9), with one missing data of the primary tumor. 27 patients had more than one genetic alteration. The most common alterations were PIK3CA (n?=?14) and ERBB2 alterations (n?=?11). Followed by ESR1 (n?=?10), FGFR1 (n?=?7) and PTEN (n?=?7). 68% of the alterations were clinically relevant (tier I and II of ESCAT classification). The most common treatment recommendation was ERBB2-directed therapy (single or double blockade, trastuzumab emtansine and lapatinib) followed by alpelisib in combination with fulvestrant. Comprehensive genomic profiling combined with protein expression analysis in aBC allowed a guided personalized therapy for half of our patients. So far there are no well-defined tools allowing interpretations of genomic alterations detected by NGS in combination with protein expression and other factors.

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Concepts Keywords
Blockade Tumor
Bone Tumors
Breast Chemical compounds
ERBB2 Medicine
ESR1 Aromatic compounds
FGFR1 Tyrosine kinase receptors
Fulvestrant RTT
Genetic HER2/neu
Immunohistochemistry Trastuzumab
Metastatic Targeted therapy
Molecularly Targeted Therapy Lapatinib
Precision Medicine
Primary Tumor
Targeted Therapy
Triple Negative


Type Source Name
disease MESH breast cancer
pathway KEGG Breast cancer
drug DRUGBANK Abacavir
disease MESH tumors
drug DRUGBANK Trastuzumab emtansine
drug DRUGBANK Lapatinib
drug DRUGBANK Alpelisib
drug DRUGBANK Fulvestrant
drug DRUGBANK Coenzyme M
drug DRUGBANK Trestolone
drug DRUGBANK Olaparib
drug DRUGBANK Cefadroxil
disease MESH point mutations
disease MESH diagnosis
disease MESH metastasis
disease MESH tumor grading
drug DRUGBANK Rasagiline
drug DRUGBANK Sirolimus
pathway KEGG Cell cycle
drug DRUGBANK Myricetin
drug DRUGBANK Osimertinib
drug DRUGBANK Afatinib
drug DRUGBANK Neratinib
drug DRUGBANK Pumactant
drug DRUGBANK Pentaerythritol tetranitrate
drug DRUGBANK Everolimus
drug DRUGBANK Anastrozole
drug DRUGBANK Amino acids
drug DRUGBANK Pembrolizumab
disease MESH recurrence
drug DRUGBANK Temsirolimus
drug DRUGBANK L-Tyrosine
disease MESH microsatellite instability
disease MESH carcinomas
disease MESH lung cancer
disease MESH estrogen
drug DRUGBANK Paclitaxel
disease MESH triple negative breast cancer

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