<HashMap><database>EGA</database><scores/><additional><omics_type>Genomics</omics_type><dataset_type>Illumina MiSeq;</dataset_type><full_dataset_link>https://ega-archive.org/datasets/EGAD00001002252</full_dataset_link><sample_count>2</sample_count><description>EGA dataset EGAD00001002252</description><repository>EGA</repository><title>A case of colorectal cancer with ERBB2 c.2264T>C (p.Leu755Ser) mutation</title><pubmed_abstract>Recent advances in molecular profiling technologies allow genetic driver events in individual tumors to be identified. The hypothesis behind this ongoing molecular profiling effort is that improvement in patients' clinical outcomes will be achieved by inhibiting these discovered genetic driver events with matched targeted drugs. This hypothesis is currently being tested in oncology clinics with variable early results. Herein, we present our experience with a case of advanced colorectal cancer (CRC) with an ERBB2 p.L755S kinase domain mutation, a BRAF p.N581S mutation, and an APC p.Q1429fs mutation, together with a brief review of the literature describing the biological and clinical significance of ERRB2 kinase domain mutations in CRC. The patient was treated with trastuzumab combined with infusional 5-fluorouracil and leucovorin based on the presence of ERBB2 p.L755S kinase mutation in the tumor and based on the available evidence at the time when standard treatment options had been exhausted. However, there was no therapeutic response illustrating the challenges we face in managing patients with potentially targetable mutations where results from functional in vitro and in vivo studies lag behind those of genomic sequencing studies. Also lagging behind are clinical utility data from oncology clinics, hampering rapid therapeutic advances. Our case also highlights the logistical barriers associated with getting the most optimal therapeutic agents to the right patient in this era of personalized therapeutics based on cancer genomics.</pubmed_abstract><pubmed_title>Testing ERBB2 p.L755S kinase domain mutation as a druggable target in a patient with advanced colorectal cancer.</pubmed_title><pubmed_authors>Aung Kyaw L KL, Stockley Tracy L TL, Serra Stefano S, Kamel-Reid Suzanne S, Bedard Philippe L PL, Siu Lillian L LL</pubmed_authors><name_synonyms>Vasp, VASP, Data Set., DmelCG15112, ENHANCER OF ATNSI ACTIVITY, MENA, NDPP1, l(2)02029, Enb, enb, ENA, Ena, CG15112, ENA/VASP</name_synonyms><description_synonyms>Erbb-2, Colorectal Neoplasm, Materials, BamF, bim, Colorectal Cancer, biml, BamC, Metastasis, Neoplasms, bam, Benign Neoplasm, Gene, Neoplasm Metastases, neoplasm metastasis, Tumor, Malignant, autosomal dominant, cancer metastasis, fs(3)neo61, CD340, Colorectal, colorectal cancer, CG10422, Kiaa3023, bim-beta7, DmelCG10422, HER-2/neu, Colorectal Tumors, tumor cell migration, Genetic, Malignancy, HCAP, bim-beta6, HER-2, metastasis, Colorectal Carcinomas, Colorectal Tumor, CDLS3, large intestine cancer, cancer of the large intestine, Neoplasias, malignant neoplasm, Clients, MiSeq, BMH., Malignancies, associated, CSPG6, tumor metastasis, somatic mutation, colorectal (colon or rectal) cancer, Cancer, Tumors, Neu, NEU, Carcinoma, Malignant Neoplasm, Data Set, Metastases, HER-2|neu, mKIAA3023, ham, BOD, MLN19, Cistrons, Client, Metastase, Benign, MT, Neoplasm, NGL, Genetic Materials, CRC, Colorectal Cancers, bod, bimel, Genetic Material, c-neu, Carcinomas, large bowel cancer, primary cancer, c-erbB2, susceptibility to, Colorectal Carcinoma, Benign Neoplasms, patient, Cancers, alpha, cancer of large bowel, malignant tumor, Malignant Neoplasms, MLN 19, colon cancer, BIM, Patient, Material, Bam-C, BAM, Bam, cancer of the large bowel, TKR1, SMC3L1, Cistron, cancer of large intestine, other neoplasm, Neoplasia, HER2</description_synonyms><pubmed_title_synonyms>Erbb-2, Colorectal Neoplasm, Carcinoma, Colorectal Cancer, Neoplasms, HER-2|neu, mKIAA3023, MLN19, Tumor, Client, autosomal dominant, Phosphotransferases, CD340, Mutations, Colorectal, colorectal cancer, Kiaa3023, Neoplasm, NGL, Kinase, CRC, Colorectal Cancers, HER-2/neu, Phosphotransferase, c-neu, Colorectal Tumors, Carcinomas, large bowel cancer, Transphosphorylases, c-erbB2, Kinases, HER-2, susceptibility to, Colorectal Carcinoma, Colorectal Carcinomas, patient, Cancers, Transphosphorylase, Colorectal Tumor, cancer of large bowel, large intestine cancer, cancer of the large intestine, MLN 19, colon cancer, Patient, Clients, TKR1, cancer of the large bowel, cancer of large intestine, colorectal (colon or rectal) cancer., ATP Phosphotransferases, HER2, somatic mutation, ATP, Neu, NEU, Tumors, Cancer</pubmed_title_synonyms><pubmed_abstract_synonyms>Erbb-2, Colorectal Neoplasm, PP17, Product, Calcium (1:1) Salt, PP19, Tumor, Long Term, Mutations, Kiaa3023, Fluorouracil Mononitrate, responsivity, 2, AA120551, 4, Kinase, 5, 6, 1110025J15Rik, CG1451, 7, Fs(3)Hor, Atf4, Colorectal Tumors, 929, DmelCG8669, Multicase, treatment, AU041214, Leukovorin, Efudex, F20O9.210, Colorectal Carcinomas, CRUCIFERIN C, NTef2, Colorectal Tumor, DmelCG7693, 4624, AI047805, Pp17, Pp18, Comparative Genomics., medicine, Pp19, HERA-B, HERA-A, ATP Phosphotransferases, colorectal (colon or rectal) cancer, Tumors, 5 FU Lederle, Monosodium Salt Leucovorin, din, Ribofluor, potp, Herceptin, familial, 5-FU Medac, Longterm Effect, RCB2758, MLN19, enthesitis related arthritis, d-APC, Fs(3)Sz11, APC2, 5 Fluorouracil, Apc1, APC1, Benign, E-APC dAPC2, (R)-Isomer, ER, apc 1, LAP18, apc1, Neofluor, apc2, Colorectal Cancers, l(2)crc, c-neu, Lap18, Carcinomas, Fluoro-Uracile ICN, dOSR1, Acid, 5-FU Lederle, Benign Neoplasms, cancer of large bowel, Dm APC2, Dm APC1, Malignant Neoplasms, ATF-4, GS, fluorouracilum, Haemato-FU, CG2684, cancer of the large bowel, fluorouracilo, ATF4/crc, other neoplasm, AA473386, 5 FU Medac, D-Axin, Colorectal Cancer, Clr, e-apc, Carac, Effects, Neoplasms, number, Fluorouracil Monosodium Salt, AA420328, 5 Fluorouracil Biosyn, colorectal cancer, DP3, Folinate, DP2, Structural, N-(4-(((2-amino-5-formyl-1, Functional, anon-EST:Liang-2.17, anon-EST:Liang-2.11, SMN, Smn, ERA, Era, juvenile spondylarthropathy, HER-2/neu, 5-Fluorouracil-Biosyn, Academic, Longterm, 8-hexahydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-, Monosodium Salt, C87398, ERa, 5 HU Hexal, Long-Term, Fluorouracile Dakota, CG7926, cancer of the large intestine, Fluorouracile, Neoplasias, N(5)-Formyltetrahydrofolate, drugs, dAPC2/E-APC, ESR, Pig, 5-fluoro-, Lag, LAG, constitutitional genetic, Dakota, Cancer, Pharmaceuticals, Neu, NEU, 5-FU, Products, Fluorouracil Monopotassium Salt, Fanconi anemia, Malignant Neoplasm, HER-2|neu, 5-Fluoracil, Wellcovorin, lag, BRAF1, Factor, eth, Faces, MT, 4-dione, Long Term Effects, LCE, Neoplasm, NGL, CRC, Crc, STE20-like/SPAK, d-APC2, AU020952, Calcium, primary cancer, Pharmaceutic Preparations, c-erbB2, Colorectal Carcinoma, crc, ESTRR, Cancers, CRIB, Citrovorum Factor, Lds, Fluoruracil, malignant tumor, DAxin, beta, Longterm Effects, Fluorouracil, Trastuzumab-qyyp, crt, colon cancer, Braf2, DmelCG7926, APC, Pharmaceutical Products, hereditary, Neoplasia, hypothesis, D-APC1, D-APC2, Daxin, apc, Estra, (DL)-Isomer, ER[a], F20O9_210, CD340, H-ERA, PPP1R46, d-axin, Pharmaceutical Product, Min, GSK3beta, Effect, C1orf215, DmelCG2684, Trastuzumab beta, mAPC, Fluracedyl, large intestine cancer, 9930012E13Rik, genetic, C230098H17, malignant neoplasm, Pharmaceutical, 3H)-Pyrimidinedione, cyclosome, disease management, Therapies, Malignancies, D6Ertd631e, P18, l(3)07551, P19, Long-Term Effects, somatic mutation, ATP, FACE, Nr3a1, Therapy, DmelCG1451, dApc2, Carcinoma, B-RAF1, Genomics, l(3)S044230, Leucovorin, DP2.5, Comparative, Calcium Folinate, Functional Genomics, Trazimera, results, Literatures, Folinic, xapc, Pharmaceutic, Pentahydrate, anon-EST:fe3D7, dAPC2, dAPC1, Transphosphorylases, RAFB1, cruciferin 3, CG7693, Review, Fluorouracilo Ferrer Far, susceptibility to, Folinic Acid SF, Folinic Acid, 0442/30, AA387315, Adrucil, AW124434, Treatments, early, (D)-Isomer, L-Glutamic acid, MLN 19, Fluoroplex, Patient, Horka, FAE, Fs(3)Horka, TKR1, CG8669, juvenile enthesitis-related arthritis, inherited genetic, Fluorouracil GRY, cancer of large intestine, Review of Reported Cases, mKIAA0147, anaphase promoting complex, 5-Formyltetrahydropteroylglutamate, AI118201, 5 Formyltetrahydropteroylglutamate, 5 Formyltetrahydrofolate, Benign Neoplasm, NS7, Calcium Leucovorin, axn, Malignant, Haemato FU, autosomal dominant, presence, Fluorouracil-GRY, Flurodex, Colorectal, dATF-4, DAPC, CG6193, BTPS2, DmF2, Fluoro Uracile ICN, clone 2.11, D-APC, juvenile, Phosphotransferase, dApc, dAPC, Drugs, lod, Fluorouracil Potassium Salt, reactivity, 19k, Malignancy, clone 2.17, HER-2, dSTRAD, NR3A1, complementation group E, Scrb1, CG9429, Citrovorum, ERalpha, Ire1, 5-Formyltetrahydrofolate, Transphosphorylase, Clients, vartul, Long-Term Effect, Preparation, DmelCG6193, 5-Fluoropyrimidine-2, ESRA, dAxin, 5-Fluorouracil, visage, fluorouracil, facia/facies, E-APC, SCRIB1, Trastuzumab qyyp, mKIAA3023, Medications, Onkofluor, Client, Phosphotransferases, dAXIN, count in organism, Review Literature, ERAL1A, Efudix, axin, 4(1H, B-raf, Trastuzumab, large bowel cancer, 5FU, Pr22, Kinases, Op18, CC1, patient, Leukovorum, enthesitis-related arthritis, Drug, DmelCG9429, Preparations, PR22, 5-HU Hexal, Braf-2, Therapeutic, Folinic Acid-SF, OP18, Estr, Treatment, Structural Genomics, response, variable, HER2, ER-alpha, Pharmaceutical Preparation</pubmed_abstract_synonyms></additional><is_claimable>false</is_claimable><name>ena-DATASET-UHN-12-07-2016-18:07:43:658-770 - samples</name><description>This data set contains next generation sequencing (NGS) data  of two serial tumor samples (primary and a metastasis) from a patient with colorectal cancer showing an ERBB2 c.2264T>C (p.Leu755Ser). NGS was performed using the Illumina TruSeq Amplicon Cancer Panel (TSACP, Illumina) covering 212 amplicons in 48 cancer associated genes on the Illumina MiSeq sequencing platform. The dataset contains two BAM files.</description><dates><updated>2020-08-24 18:10:06</updated></dates><accession>EGAD00001002252</accession><cross_references><TAXONOMY>9606</TAXONOMY><pubmed>27626067</pubmed><EGA>EGAC00001000912</EGA><EGA>EGAS00001001897</EGA></cross_references></HashMap>