Publications:

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Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

Frontiers In Oncology

He, Ping P; Liu, Jie J; Xu, Qingyuan Q; Ma, Huaijun H; Niu, Beifang B; Huang, Gang G; Wu, Wei W

Publication Date: 2023

Variant appearance in text: ALK: 3035C>T; T1012M; rs35073634

PubMed Link: 36910641

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 8

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: ALK: T1012M

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1
• Table_3.xlsx, sheet 1

View BVdb publication page

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Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma.

Bmc Cancer

Kuick, Chik Hong CH; Tan, Jia Ying JY; Jasmine, Deborah D; Sumanty, Tohari T; Ng, Alvin Y J AYJ; Venkatesh, Byrrappa B; Chen, Huiyi H; Loh, Eva E; Jain, Sudhanshi S; Seow, Wan Yi WY; Ng, Eileen H Q EHQ; Lian, Derrick W Q DWQ; Soh, Shui Yen SY; Chang, Kenneth T E KTE; Chen, Zhi Xiong ZX; Loh, Amos H P AHP

Publication Date: 2022-06-30

Variant appearance in text: rs35073634

PubMed Link: 35768791

Variant Present in the following documents:

• 12885_2022_9800_MOESM1_ESM.pdf

View BVdb publication page

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Myeloproliferative neoplasm with basophilia and abnormality of platelet-derived growth factor receptor a translocation: a case report.

Blood Research

Choi, Jong Gwon JG; Cho, Do Yeun DY

Publication Date: 2022-03-31

Variant appearance in text: ALK: 3035C>T; T1012M; rs35073634

PubMed Link: 35342043

Variant Present in the following documents:

• br-57-1-69.pdf

View BVdb publication page

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Multi-omic machine learning predictor of breast cancer therapy response.

Nature

Sammut, Stephen-John SJ; Crispin-Ortuzar, Mireia M; Chin, Suet-Feung SF; Provenzano, Elena E; Bardwell, Helen A HA; Ma, Wenxin W; Cope, Wei W; Dariush, Ali A; Dawson, Sarah-Jane SJ; Abraham, Jean E JE; Dunn, Janet J; Hiller, Louise L; Thomas, Jeremy J; Cameron, David A DA; Bartlett, John M S JMS; Hayward, Larry L; Pharoah, Paul D PD; Markowetz, Florian F; Rueda, Oscar M OM; Earl, Helena M HM; Caldas, Carlos C

Publication Date: 2022-01

Variant appearance in text: ALK: 3035C>T

PubMed Link: 34875674

Variant Present in the following documents:

• 41586_2021_4278_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Molecular characteristics and clinical outcomes of complex ALK rearrangements identified by next-generation sequencing in non-small cell lung cancers.

Journal Of Translational Medicine

Xia, Peiyi P; Zhang, Lan L; Li, Pan P; Liu, Enjie E; Li, Wencai W; Zhang, Jianying J; Li, Hui H; Su, Xiaoxing X; Jiang, Guozhong G

Publication Date: 2021-07-16

Variant appearance in text: ALK: T1012M

PubMed Link: 34271921

Variant Present in the following documents:

• Main text
• 12967_2021_Article_2982.pdf

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: ALK: T1012M; rs35073634

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Experimental Hematology & Oncology

Ye, Yingying Y; Ding, Ning N; Mi, Lan L; Shi, Yunfei Y; Liu, Weiping W; Song, Yuqin Y; Shu, Shaokun S; Zhu, Jun J

Publication Date: 2021-02-05

Variant appearance in text: ALK: 3035C>T; T1012M

PubMed Link: 33546774

Variant Present in the following documents:

• 40164_2021_200_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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STAT3 and TP53 mutations associate with poor prognosis in anaplastic large cell lymphoma.

Leukemia

Lobello, Cosimo C; Tichy, Boris B; Bystry, Vojtech V; Radova, Lenka L; Filip, Daniel D; Mraz, Marek M; Montes-Mojarro, Ivonne-Aidee IA; Prokoph, Nina N; Larose, Hugo H; Liang, Huan-Chang HC; Sharma, Geeta G GG; Mologni, Luca L; Belada, David D; Kamaradova, Katerina K; Fend, Falko F; Gambacorti-Passerini, Carlo C; Merkel, Olaf O; Turner, Suzanne D SD; Janikova, Andrea A; Pospisilova, Sarka S

Publication Date: 2021-05

Variant appearance in text: ALK: 3035C>T; T1012M; rs35073634

PubMed Link: 33247178

Variant Present in the following documents:

• 41375_2020_1093_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular subtyping and genomic profiling expand precision medicine in refractory metastatic triple-negative breast cancer: the FUTURE trial.

Cell Research

Jiang, Yi-Zhou YZ; Liu, Yin Y; Xiao, Yi Y; Hu, Xin X; Jiang, Lin L; Zuo, Wen-Jia WJ; Ma, Ding D; Ding, Jiahan J; Zhu, Xiaoyu X; Zou, Jianjun J; Verschraegen, Claire C; Stover, Daniel G DG; Kaklamani, Virginia V; Wang, Zhong-Hua ZH; Shao, Zhi-Ming ZM

Publication Date: 2021-02

Variant appearance in text: ALK: 3035C>T; T1012M

PubMed Link: 32719455

Variant Present in the following documents:

• 41422_2020_375_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: ALK: 3035C>T; T1012M; rs35073634

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: ALK: 3035C>T; Thr1012Met

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One

Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY

Publication Date: 2019

Variant appearance in text: ALK: T1012M; rs35073634

PubMed Link: 31747416

Variant Present in the following documents:

• pone.0224227.s002.xlsx, sheet 1

View BVdb publication page

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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: ALK: Thr1012Met

PubMed Link: 31645765

Variant Present in the following documents:

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

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: ALK: T1012M

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 50

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ALK: 3035C>T; Thr1012Met

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Structure and energy based quantitative missense variant effect analysis provides insights into drug resistance mechanisms of anaplastic lymphoma kinase mutations.

Scientific Reports

Li, Jianzong J; Huang, Yue Y; Wu, Miaomiao M; Wu, Chuanfang C; Li, Xin X; Bao, Jinku J

Publication Date: 2018-07-13

Variant appearance in text: ALK: T1012M

PubMed Link: 30006516

Variant Present in the following documents:

• 41598_2018_28752_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Targetable vulnerabilities in T- and NK-cell lymphomas identified through preclinical models.

Nature Communications

Ng, Samuel Y SY; Yoshida, Noriaki N; Christie, Amanda L AL; Ghandi, Mahmoud M; Dharia, Neekesh V NV; Dempster, Joshua J; Murakami, Mark M; Shigemori, Kay K; Morrow, Sara N SN; Van Scoyk, Alexandria A; Cordero, Nicolas A NA; Stevenson, Kristen E KE; Puligandla, Maneka M; Haas, Brian B; Lo, Christopher C; Meyers, Robin R; Gao, Galen G; Cherniack, Andrew A; Louissaint, Abner A; Nardi, Valentina V; Thorner, Aaron R AR; Long, Henry H; Qiu, Xintao X; Morgan, Elizabeth A EA; Dorfman, David M DM; Fiore, Danilo D; Jang, Julie J; Epstein, Alan L AL; Dogan, Ahmet A; Zhang, Yanming Y; Horwitz, Steven M SM; Jacobsen, Eric D ED; Santiago, Solimar S; Ren, Jian-Guo JG; Guerlavais, Vincent V; Annis, D Allen DA; Aivado, Manuel M; Saleh, Mansoor N MN; Mehta, Amitkumar A; Tsherniak, Aviad A; Root, David D; Vazquez, Francisca F; Hahn, William C WC; Inghirami, Giorgio G; Aster, Jon C JC; Weinstock, David M DM; Koch, Raphael R

Publication Date: 2018-05-22

Variant appearance in text: ALK: T1012M; rs35073634

PubMed Link: 29789628

Variant Present in the following documents:

• 41467_2018_4356_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: ALK: T1012M

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1

View BVdb publication page

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Profiling cancer-associated genetic alterations and molecular classification of cancer in Korean gastric cancer patients.

Oncotarget

Kim, Yoonjung Y; Cho, Mee-Yon MY; Kim, Juwon J; Kim, Sung Nam SN; Oh, Seoung Chul SC; Lee, Kyung-A KA

Publication Date: 2017-09-19

Variant appearance in text: ALK: T1012M

PubMed Link: 29050249

Variant Present in the following documents:

• Main text
• oncotarget-08-69888.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: ALK: T1012M

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs35073634

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ALK: T1012M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Integrating in silico prediction methods, molecular docking, and molecular dynamics simulation to predict the impact of ALK missense mutations in structural perspective.

Biomed Research International

Doss, C George Priya CG; Chakraborty, Chiranjib C; Chen, Luonan L; Zhu, Hailong H

Publication Date: 2014

Variant appearance in text: ALK: T1012M

PubMed Link: 25054154

Variant Present in the following documents:

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: ALK: T1012M; rs35073634

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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