Publications:

---

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

Publication Date: 2022

Variant appearance in text: KIT: Y553_K558del

PubMed Link: 35547262

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

View BVdb publication page

---

Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: KIT: Y553_K558del

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 8

View BVdb publication page

---

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: KIT: 1656_1673del

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

---

Mutational characteristics of gastrointestinal stromal tumors: A single-center analysis of 302 patients.

Oncology Letters

Liang, Li L; Li, Xin X; Li, Dong D; Liu, Ping P; Nong, Lin L; Dong, Ying Y; Liu, Jumei J; Huang, Sixia S; Li, Ting T

Publication Date: 2021-02

Variant appearance in text: KIT: Y553_K558del

PubMed Link: 33552291

Variant Present in the following documents:

• Main text
• ol-21-02-12435.pdf

View BVdb publication page

---

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

Publication Date: 2020-05-14

Variant appearance in text: KIT: Y553_K558del

PubMed Link: 32408889

Variant Present in the following documents:

• Main text
• 13000_2020_Article_939.pdf

View BVdb publication page

---

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

Publication Date: 2019-11

Variant appearance in text: KIT: Tyr553_Lys558del

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
• 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

The assessment of minimal residual disease versus that of somatic mutations for predicting the outcome of acute myeloid leukemia patients.

Cancer Cell International

Salehzadeh, Serena S; Guerrini, Francesca F; Pizzano, Umberto U; Grassi, Susanna S; Ciabatti, Elena E; Iovino, Lorenzo L; Buda, Gabriele G; Caracciolo, Francesco F; Benedetti, Edoardo E; Orciuolo, Enrico E; Pelosini, Matteo M; Consani, Giovanni G; Carulli, Giovanni G; Metelli, Maria Rita MR; Martini, Francesca F; Mazziotta, Francesco F; Mazzantini, Elisa E; Rossi, Pietro P; Tavarozzi, Rita R; Ricci, Federica F; Petrini, Mario M; Galimberti, Sara S

Publication Date: 2019

Variant appearance in text: KIT: 1656_1673del

PubMed Link: 30992690

Variant Present in the following documents:

• Main text
• 12935_2019_Article_807.pdf

View BVdb publication page

---

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Bmc Urology

Kim, Young Saing YS; Kim, Kyung K; Kwon, Ghee-Young GY; Lee, Su Jin SJ; Park, Se Hoon SH

Publication Date: 2018-07-31

Variant appearance in text: KIT: 1656_1673del

PubMed Link: 30064409

Variant Present in the following documents:

• 12894_2018_380_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Feasibility study of cancer genome alterations identified by next generation sequencing: ABC study.

Japanese Journal Of Clinical Oncology

Naito, Yoichi Y; Takahashi, Hideaki H; Shitara, Kohei K; Okamoto, Wataru W; Bando, Hideaki H; Kuwata, Takeshi T; Kuboki, Yasutoshi Y; Matsumoto, Shingo S; Miki, Izumi I; Yamanaka, Takeharu T; Watanabe, Atsushi A; Kojima, Motohiro M

Publication Date: 2018-06-01

Variant appearance in text: KIT: 1656_1673del

PubMed Link: 29659903

Variant Present in the following documents:

• hyy052supplementaltable1ionver1.xls, sheet 1

View BVdb publication page

---

Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Translational Oncology

Lee, Ji Yun JY; Kim, Kyung K; Sung, Hyun Hwan HH; Jeon, Hwang Gyun HG; Jeong, Byong Chang BC; Seo, Seong Il SI; Jeon, Seong Soo SS; Lee, Hyun Moo HM; Choi, Han-Yong HY; Kwon, Ghee-Young GY; Kim, Kyoung-Mee KM; Lee, Jeeyun J; Lim, Ho Yeong HY; Park, Se Hoon SH

Publication Date: 2018-02

Variant appearance in text: KIT: 1656_1673del

PubMed Link: 29161613

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

---

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: 1657_1674del; Y553_K558del

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Gastrointestinal Stromal Tumour with Synchronous Bone Metastases: A Case Report and Literature Review.

Case Reports In Oncology

Rochigneux, Philippe P; Mescam-Mancini, Lénaig L; Perrot, Delphine D; Bories, Erwan E; Moureau-Zabotto, Laurence L; Sarran, Anthony A; Guiramand, Jérôme J; Bertucci, François F

Publication Date: 2017

Variant appearance in text: KIT: 1657_1674del

PubMed Link: 28203166

Variant Present in the following documents:

• Main text
• cro-0010-0066.pdf

View BVdb publication page

---

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: 1656_1673del

PubMed Link: 26527317

Variant Present in the following documents:

• oncotarget-06-43731-s002.xlsx, sheet 1

View BVdb publication page

---

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

Publication Date: 2015-12

Variant appearance in text: KIT: Y553_K558del

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1

View BVdb publication page

---

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: 1656_1673del

PubMed Link: 26296973

Variant Present in the following documents:

• oncotarget-06-25619-s003.xls, sheet 1

View BVdb publication page

---

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: 1656_1673del

PubMed Link: 26009992

Variant Present in the following documents:

• oncotarget-06-24499-s002.xlsx, sheet 1

View BVdb publication page

---

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: 1656_1673del

PubMed Link: 25372287

Variant Present in the following documents:

• pone.0111693.s003.xls, sheet 1

View BVdb publication page

---

Double resistance to imatinib and AMG 706 caused by multiple acquired KIT exon 17 mutations in a gastrointestinal stromal tumour.

Gut

Grabellus, Florian F; Ebeling, Peter P; Worm, Karl K; Sheu, Sien-Yi SY; Antoch, Gerald G; Frilling, Andrea A; Schmid, Kurt W KW

Publication Date: 2007-07

Variant appearance in text: KIT: 1656_1673del

PubMed Link: 17566038

Variant Present in the following documents:

• Main text

View BVdb publication page

---