An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.
Frontiers In Oncology
Schwartz, Alison A; Manning, Danielle K DK; Koeller, Diane R DR; Chittenden, Anu A; Isidro, Raymond A RA; Hayes, Connor P CP; Abraamyan, Feruza F; Manam, Monica Devi MD; Dwan, Meaghan M; Barletta, Justine A JA; Sholl, Lynette M LM; Yurgelun, Matthew B MB; Rana, Huma Q HQ; Garber, Judy E JE; Ghazani, Arezou A AA
Publication Date: 2022
Variant appearance in text: EGFR: Glu746_Ser752del
Molecular Diagnostic of Solid Tumor Using a Next Generation Sequencing Custom-Designed Multi-Gene Panel.
Diagnostics (Basel, Switzerland)
de Biase, Dario D; Acquaviva, Giorgia G; Visani, Michela M; Sanza, Viviana V; Argento, Chiara M CM; De Leo, Antonio A; Maloberti, Thais T; Pession, Annalisa A; Tallini, Giovanni G
Publication Date: 2020-04-23
Variant appearance in text: EGFR: 2236_2256del; E746_S752del
Rapid EGFR mutation testing in lung cancer tissue samples using a fully automated system and single-use cartridge.
Practical Laboratory Medicine
Al-Turkmani, M Rabie MR; Suriawinata, Michael A MA; Deharvengt, Sophie J SJ; Green, Donald C DC; Black, Candice C CC; Shirai, Keisuke K; Dragnev, Konstantin H KH; Tsongalis, Gregory J GJ
Targeted Gene Next-Generation Sequencing Panel in Patients with Advanced Lung Adenocarcinoma: Paving the Way for Clinical Implementation.
Cancers
Fernandes, Maria Gabriela O MGO; Jacob, Maria M; Martins, Natália N; Moura, Conceição Souto CS; Guimarães, Susana S; Reis, Joana Pereira JP; Justino, Ana A; Pina, Maria João MJ; Cirnes, Luís L; Sousa, Catarina C; Pinto, Josué J; Marques, José Agostinho JA; Machado, José Carlos JC; Hespanhol, Venceslau V; Costa, José Luis JL
Publication Date: 2019-08-22
Variant appearance in text: EGFR: Glu746_Ser752del
Evaluation of pre-analytical conditions and comparison of the performance of several digital PCR assays for the detection of major EGFR mutations in circulating DNA from non-small cell lung cancers: the CIRCAN_0 study.
Oncotarget
Garcia, Jessica J; Dusserre, Eric E; Cheynet, Valérie V; Bringuier, Pierre Paul PP; Brengle-Pesce, Karen K; Wozny, Anne-Sophie AS; Rodriguez-Lafrasse, Claire C; Freyer, Gilles G; Brevet, Marie M; Payen, Léa L; Couraud, Sébastien S
The percentage of Epidermal Growth Factor Receptor (EGFR)-mutated neoplastic cells correlates to response to tyrosine kinase inhibitors in lung adenocarcinoma.
Plos One
de Biase, Dario D; Genestreti, Giovenzio G; Visani, Michela M; Acquaviva, Giorgia G; Di Battista, Monica M; Cavallo, Giovanna G; Paccapelo, Alexandro A; Cancellieri, Alessandra A; Trisolini, Rocco R; Degli Esposti, Roberta R; Bartolini, Stefania S; Pession, Annalisa A; Tallini, Giovanni G; Brandes, Alba A AA
Publication Date: 2017
Variant appearance in text: EGFR: 2236_2256del; E746_S752del
Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.
Genome Research
Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U
Publication Date: 2017-04
Variant appearance in text: EGFR: 2236_2256del; E746_S752del
Heterogeneity of resistance mutations detectable by nextgeneration sequencing in TKI-treated lung adenocarcinoma.
Oncotarget
Belchis, Deborah A DA; Tseng, Li-Hui LH; Gniadek, Thomas T; Haley, Lisa L; Lokhandwala, Parvez P; Illei, Peter P; Gocke, Christopher D CD; Forde, Patrick P; Brahmer, Julie J; Askin, Frederic B FB; Eshleman, James R JR; Lin, Ming-Tseh MT
Development of a semi-conductor sequencing-based panel for genotyping of colon and lung cancer by the Onconetwork consortium.
Bmc Cancer
Tops, Bastiaan B J BB; Normanno, Nicola N; Kurth, Henriette H; Amato, Eliana E; Mafficini, Andrea A; Rieber, Nora N; Le Corre, Delphine D; Rachiglio, Anna Maria AM; Reiman, Anne A; Sheils, Orla O; Noppen, Christoph C; Lacroix, Ludovic L; Cree, Ian A IA; Scarpa, Aldo A; Ligtenberg, Marjolijn J L MJ; Laurent-Puig, Pierre P
Publication Date: 2015-01-31
Variant appearance in text: EGFR: Glu746_Ser752del
Assessment of EGFR mutations in circulating tumor cell preparations from NSCLC patients by next generation sequencing: toward a real-time liquid biopsy for treatment.
Plos One
Marchetti, Antonio A; Del Grammastro, Maela M; Felicioni, Lara L; Malatesta, Sara S; Filice, Giampaolo G; Centi, Irene I; De Pas, Tommaso T; Santoro, Armando A; Chella, Antonio A; Brandes, Alba Ariela AA; Venturino, Paola P; Cuccurullo, Franco F; Crinò, Lucio L; Buttitta, Fiamma F
EGFR mutational status in a large series of Caucasian European NSCLC patients: data from daily practice.
British Journal Of Cancer
Gahr, S S; Stoehr, R R; Geissinger, E E; Ficker, J H JH; Brueckl, W M WM; Gschwendtner, A A; Gattenloehner, S S; Fuchs, F S FS; Schulz, C C; Rieker, R J RJ; Hartmann, A A; Ruemmele, P P; Dietmaier, W W
Germ-line mutations in epidermal growth factor receptor (EGFR) are rare but may contribute to oncogenesis: a novel germ-line mutation in EGFR detected in a patient with lung adenocarcinoma.
Bmc Cancer
Centeno, Irene I; Blay, Pilar P; Santamaría, Iñigo I; Astudillo, Aurora A; Pitiot, Ana S AS; Osorio, Fernando G FG; González-Arriaga, Patricia P; Iglesias, Fernando F; Menéndez, Primitiva P; Tardón, Adonina A; Freije, Jose M JM; Balbín, Milagros M