Correlation of treatment outcome in sanger/RT‑qPCR KIT/PDGFRA wild‑type metastatic gastrointestinal stromal tumors with next‑generation sequencing results: A single‑center report.
Oncology Reports
Unk, Mojca M; Bombač, Alenka A; Jezeršek Novaković, Barbara B; Stegel, Vida V; Šetrajčič Dragoš, Vita V; Blatnik, Olga O; Klančar, Gašper G; Novaković, Srdjan S
Molecular Portrait of GISTs Associated With Clinicopathological Features: A Retrospective Study With Molecular Analysis by a Custom 9-Gene Targeted Next-Generation Sequencing Panel.
Frontiers In Genetics
Qian, Haoran H; Yan, Na N; Hu, Xiaotong X; Jiang, Junchang J; Cao, Zhengzheng Z; Shen, Dan D
Circulating Tumor DNA Mutations in Progressive Gastrointestinal Stromal Tumors Identify Biomarkers of Treatment Resistance and Uncover Potential Therapeutic Strategies.
Frontiers In Oncology
Ko, Tun Kiat TK; Lee, Elizabeth E; Ng, Cedric Chuan-Young CC; Yang, Valerie Shiwen VS; Farid, Mohamad M; Teh, Bin Tean BT; Chan, Jason Yongsheng JY; Somasundaram, Nagavalli N
Not all KIT 557/558 codons mutations have the same prognostic influence on recurrence-free survival: breaking the exon 11 mutations in gastrointestinal stromal tumors (GISTs).
Therapeutic Advances In Medical Oncology
Incorvaia, Lorena L; Badalamenti, Giuseppe G; Fanale, Daniele D; Vincenzi, Bruno B; Luca, Ida De I; Algeri, Laura L; Barraco, Nadia N; Brando, Chiara C; Bonasera, Annalisa A; Bono, Marco M; Castiglia, Marta M; Cancelliere, Daniela D; Cani, Massimiliano M; Rita Corsini, Lidia L; Fiorino, Alessia A; Galvano, Antonio A; Pedone, Erika E; Perez, Alessandro A; Pivetti, Alessia A; Graceffa, Giuseppa G; Pantuso, Gianni G; Cabibi, Daniela D; Russo, Antonio A; Bazan, Viviana V
Not all KIT 557/558 codons mutations have the same prognostic influence on recurrence-free survival: breaking the exon 11 mutations in gastrointestinal stromal tumors (GISTs).
Therapeutic Advances In Medical Oncology
Incorvaia, Lorena L; Badalamenti, Giuseppe G; Fanale, Daniele D; Vincenzi, Bruno B; Luca, Ida De I; Algeri, Laura L; Barraco, Nadia N; Brando, Chiara C; Bonasera, Annalisa A; Bono, Marco M; Castiglia, Marta M; Cancelliere, Daniela D; Cani, Massimiliano M; Corsini, Lidia Rita LR; Fiorino, Alessia A; Galvano, Antonio A; Pedone, Erika E; Perez, Alessandro A; Pivetti, Alessia A; Graceffa, Giuseppa G; Pantuso, Gianni G; Cabibi, Daniela D; Russo, Antonio A; Bazan, Viviana V
Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia.
Leukemia
Lundgren, Sofie S; Keränen, Mikko A I MAI; Kankainen, Matti M; Huuhtanen, Jani J; Walldin, Gunilla G; Kerr, Cassandra M CM; Clemente, Michael M; Ebeling, Freja F; Rajala, Hanna H; Brück, Oscar O; Lähdesmäki, Harri H; Hannula, Sari S; Hannunen, Tiina T; Ellonen, Pekka P; Young, Neal S NS; Ogawa, Seishi S; Maciejewski, Jaroslaw P JP; Hellström-Lindberg, Eva E; Mustjoki, Satu S
Type and Gene Location of KIT Mutations Predict Progression-Free Survival to First-Line Imatinib in Gastrointestinal Stromal Tumors: A Look into the Exon.
Cancers
Incorvaia, Lorena L; Fanale, Daniele D; Vincenzi, Bruno B; De Luca, Ida I; Bartolotta, Tommaso Vincenzo TV; Cannella, Roberto R; Pantuso, Gianni G; Cabibi, Daniela D; Russo, Antonio A; Bazan, Viviana V; Badalamenti, Giuseppe G
Exon 11 homozygous mutations and intron 10/exon 11 junction deletions in the KIT gene are associated with poor prognosis of patients with gastrointestinal stromal tumors.
Cancer Medicine
Shen, Yan-Ying YY; Ma, Xin-Li XL; Wang, Ming M; Zhuang, Chun C; Ni, Bo B; Tu, Lin L; Liu, Qiang Q; Zhao, Wen-Yi WY; Cao, Hui H
Clinicopathologic characteristics, diagnostic clues, and prognoses of patients with multiple sporadic gastrointestinal stromal tumors: a case series and review of the literature.
Diagnostic Pathology
Shen, Yan-Ying YY; Ma, Xin-Li XL; Yang, Lin-Xi LX; Zhao, Wen-Yi WY; Tu, Lin L; Zhuang, Chun C; Ni, Bo B; Liu, Qiang Q; Wang, Ming M; Cao, Hui H
Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.
Bmc Cancer
Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A
Mutational spectrum and classification of novel mutations in patients with metastatic gastrointestinal stromal tumours.
International Journal Of Oncology
Bombac, Alenka A; Zakotnik, Branko B; Bucic, Marina M; Setrajcic Dragos, Vita V; Gazic, Barbara B; Stegel, Vida V; Klancar, Gasper G; Novakovic, Srdjan S
KIT and PDGFRa mutational patterns in Sardinian patients with gastrointestinal stromal tumors.
European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)
Palomba, Grazia G; Paliogiannis, Panagiotis P; Sini, Maria C MC; Colombino, Maria M; Casula, Milena M; Manca, Antonella A; Pisano, Marina M; Sotgiu, Giovanni G; Doneddu, Valentina V; Palmieri, Giuseppe G; Cossu, Antonio A
Publication Date: 2021-01
Variant appearance in text: KIT: 1669_1674delTGGAAG; Trp557_Lys558del
Pan-cancer whole-genome analyses of metastatic solid tumours.
Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Molecular Comparison of Imatinib-Naïve and Resistant Gastrointestinal Stromal Tumors: Differentially Expressed microRNAs and mRNAs.
Cancers
Amirnasr, Azadeh A; Gits, Caroline M M CMM; van Kuijk, Patricia F PF; Smid, Marcel M; Vriends, Anne L M ALM; Rutkowski, Piotr P; Sciot, Raf R; Schöffski, Patrick P; Debiec-Rychter, Maria M; Sleijfer, Stefan S; Wiemer, Erik A C EAC
Publication Date: 2019-06-24
Variant appearance in text: KIT: 1669_1674del; W557_K558del
Comprehensive molecular screening by next generation sequencing reveals a distinctive mutational profile of KIT/PDGFRA genes and novel genomic alterations: results from a 20-year cohort of patients with GIST from north-western Greece.
Esmo Open
Mavroeidis, Leonidas L; Metaxa-Mariatou, Vassiliki V; Papoudou-Bai, Alexandra A; Lampraki, Angeliki Maria AM; Kostadima, Lida L; Tsinokou, Ilias I; Zarkavelis, George G; Papadaki, Alexandra A; Petrakis, Dimitrios D; Gκoura, Stefania S; Kampletsas, Eleftherios E; Nasioulas, George G; Batistatou, Anna A; Pentheroudakis, George G
Publication Date: 2018
Variant appearance in text: KIT: 1669_1674delTGGAAG
A single digital droplet PCR assay to detect multiple KIT exon 11 mutations in tumor and plasma from patients with gastrointestinal stromal tumors.
Oncotarget
Boonstra, Pieter A PA; Ter Elst, Arja A; Tibbesma, Marco M; Bosman, Lisette J LJ; Mathijssen, Ron R; Atrafi, Florence F; van Coevorden, Frits F; Steeghs, Neeltje N; Farag, Sheima S; Gelderblom, Hans H; van der Graaf, Winette T A WTA; Desar, Ingrid M E IME; Maier, Jacqueline J; Overbosch, Jelle J; Suurmeijer, Albert J H AJH; Gietema, Jourik J; Schuuring, Ed E; Reyners, Anna K L AKL
Publication Date: 2018-03-02
Variant appearance in text: KIT: 1669_1674delTGGAAG
Characterization of malignant gastrointestinal stromal tumors-a single center experience.
Journal Of Gastrointestinal Oncology
Mandrioli, Matteo M; Mastrangelo, Laura L; Masetti, Michele M; Zanini, Nicola N; Lega, Stefania S; Nannini, Margherita M; Gruppioni, Elisa E; Altimari, Annalisa A; Dei Tos, Angelo Paolo AP; Fabbri, Carlo C; Jovine, Elio E
Pan-urologic cancer genomic subtypes that transcend tissue of origin.
Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04
Variant appearance in text: KIT: 1669_1674delTGGAAG; W557_K558del
Effect of KIT and PDGFRA Mutations on Survival in Patients With Gastrointestinal Stromal Tumors Treated With Adjuvant Imatinib: An Exploratory Analysis of a Randomized Clinical Trial.
Jama Oncology
Joensuu, Heikki H; Wardelmann, Eva E; Sihto, Harri H; Eriksson, Mikael M; Sundby Hall, Kirsten K; Reichardt, Annette A; Hartmann, Jörg T JT; Pink, Daniel D; Cameron, Silke S; Hohenberger, Peter P; Al-Batran, Salah-Eddin SE; Schlemmer, Marcus M; Bauer, Sebastian S; Nilsson, Bengt B; Kallio, Raija R; Junnila, Jouni J; Vehtari, Aki A; Reichardt, Peter P
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: KIT: 1669_1674delTGGAAG; W557_K558del
Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.
The Journal Of Pathology. Clinical Research
Presneau, Nadège N; Baumhoer, Daniel D; Behjati, Sam S; Pillay, Nischalan N; Tarpey, Patrick P; Campbell, Peter J PJ; Jundt, Gernot G; Hamoudi, Rifat R; Wedge, David C DC; Loo, Peter Van PV; Hassan, A Bassim AB; Khatri, Bhavisha B; Ye, Hongtao H; Tirabosco, Roberto R; Amary, M Fernanda MF; Flanagan, Adrienne M AM
Integrated digital error suppression for improved detection of circulating tumor DNA.
Nature Biotechnology
Newman, Aaron M AM; Lovejoy, Alexander F AF; Klass, Daniel M DM; Kurtz, David M DM; Chabon, Jacob J JJ; Scherer, Florian F; Stehr, Henning H; Liu, Chih Long CL; Bratman, Scott V SV; Say, Carmen C; Zhou, Li L; Carter, Justin N JN; West, Robert B RB; Sledge, George W GW; Shrager, Joseph B JB; Loo, Billy W BW; Neal, Joel W JW; Wakelee, Heather A HA; Diehn, Maximilian M; Alizadeh, Ash A AA
Publication Date: 2016-05
Variant appearance in text: KIT: 1669_1674delTGGAAG; W557_K558del
Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.
Oncotarget
Lee, Ji Yun JY; Park, Kyunghee K; Lim, Sung Hee SH; Kim, Hae Su HS; Yoo, Kwai Han KH; Jung, Ki Sun KS; Song, Haa-Na HN; Hong, Mineui M; Do, In-Gu IG; Ahn, TaeJin T; Lee, Se Kyung SK; Bae, Soo Youn SY; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Jung, Hae Hyun HH; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-12-22
Variant appearance in text: KIT: 1669_1674delTGGAAG; W557_K558del
Recurrent inactivating RASA2 mutations in melanoma.
Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Patient-derived cell models as preclinical tools for genome-directed targeted therapy.
Oncotarget
Lee, Ji Yun JY; Kim, Sun Young SY; Park, Charny C; Kim, Nayoung K D NK; Jang, Jiryeon J; Park, Kyunghee K; Yi, Jun Ho JH; Hong, Mineui M; Ahn, Taejin T; Rath, Oliver O; Schueler, Julia J; Kim, Seung Tae ST; Do, In-Gu IG; Lee, Sujin S; Park, Se Hoon SH; Ji, Yong Ick YI; Kim, Dukwhan D; Park, Joon Oh JO; Park, Young Suk YS; Kang, Won Ki WK; Kim, Kyoung-Mee KM; Park, Woong-Yang WY; Lim, Ho Yeong HY; Lee, Jeeyun J
Publication Date: 2015-09-22
Variant appearance in text: KIT: 1669_1674delTGGAAG; W557_K558del
Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.
Oncotarget
Park, Kyunghee K; Choi, Moon Ki MK; Jung, Hae Hyun HH; Do, In-Gu IG; Lee, Kwang Hee KH; Ahn, TaeJin T; Kil, Won Ho WH; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-09-15
Variant appearance in text: KIT: 1669_1674delTGGAAG; W557_K558del
Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas.
Bmc Cancer
Tone, Alicia A AA; McConechy, Melissa K MK; Yang, Winnie W; Ding, Jiarui J; Yip, Stephen S; Kong, Esther E; Wong, Kwong-Kwok KK; Gershenson, David M DM; Mackay, Helen H; Shah, Sohrab S; Gilks, Blake B; Tinker, Anna V AV; Clarke, Blaise B; McAlpine, Jessica N JN; Huntsman, David D
High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.
Plos One
Kim, Seokhwi S; Lee, Jeeyun J; Hong, Min Eui ME; Do, In-Gu IG; Kang, So Young SY; Ha, Sang Yun SY; Kim, Seung Tae ST; Park, Se Hoon SH; Kang, Won Ki WK; Choi, Min-Gew MG; Lee, Jun Ho JH; Sohn, Tae Sung TS; Bae, Jae Moon JM; Kim, Sung S; Kim, Duk-Hwan DH; Kim, Kyoung-Mee KM
Publication Date: 2014
Variant appearance in text: KIT: 1669_1674delTGGAAG; W557_K558del