SMAD4 c.988G>A ;(p.E330K)

Variant ID: 18-48591825-G-A

NM_005359.5(SMAD4):c.988G>A;(p.E330K)

This variant was identified in 49 publications

View GRCh38 version.




Publications:


Tracking early lung cancer metastatic dissemination in TRACERx using ctDNA.

Nature
Abbosh, Christopher C; Frankell, Alexander M AM; Harrison, Thomas T; Kisistok, Judit J; Garnett, Aaron A; Johnson, Laura L; Veeriah, Selvaraju S; Moreau, Mike M; Chesh, Adrian A; Chaunzwa, Tafadzwa L TL; Weiss, Jakob J; Schroeder, Morgan R MR; Ward, Sophia S; Grigoriadis, Kristiana K; Shahpurwalla, Aamir A; Litchfield, Kevin K; Puttick, Clare C; Biswas, Dhruva D; Karasaki, Takahiro T; Black, James R M JRM; Martínez-Ruiz, Carlos C; Bakir, Maise Al MA; Pich, Oriol O; Watkins, Thomas B K TBK; Lim, Emilia L EL; Huebner, Ariana A; Moore, David A DA; Godin-Heymann, Nadia N; L'Hernault, Anne A; Bye, Hannah H; Odell, Aaron A; Roberts, Paula P; Gomes, Fabio F; Patel, Akshay J AJ; Manzano, Elizabeth E; Hiley, Crispin T CT; Carey, Nicolas N; Riley, Joan J; Cook, Daniel E DE; Hodgson, Darren D; Stetson, Daniel D; Barrett, J Carl JC; Kortlever, Roderik M RM; Evan, Gerard I GI; Hackshaw, Allan A; Daber, Robert D RD; Shaw, Jacqui A JA; Aerts, Hugo J W L HJWL; Licon, Abel A; Stahl, Josh J; Jamal-Hanjani, Mariam M; , ; Birkbak, Nicolai J NJ; McGranahan, Nicholas N; Swanton, Charles C
Publication Date: 2023-04-13

Variant appearance in text: SMAD4: E330K
PubMed Link: 37055640
Variant Present in the following documents:
  • EMS176197-supplement-Supplementary_Table_1.xlsx, sheet 18
View BVdb publication page



RBFOX2 modulates a metastatic signature of alternative splicing in pancreatic cancer.

Nature
Jbara, Amina A; Lin, Kuan-Ting KT; Stossel, Chani C; Siegfried, Zahava Z; Shqerat, Haya H; Amar-Schwartz, Adi A; Elyada, Ela E; Mogilevsky, Maxim M; Raitses-Gurevich, Maria M; Johnson, Jared L JL; Yaron, Tomer M TM; Ovadia, Ofek O; Jang, Gun Ho GH; Danan-Gotthold, Miri M; Cantley, Lewis C LC; Levanon, Erez Y EY; Gallinger, Steven S; Krainer, Adrian R AR; Golan, Talia T; Karni, Rotem R
Publication Date: 2023-03-22

Variant appearance in text: SMAD4: E330K
PubMed Link: 36949200
Variant Present in the following documents:
  • 41586_2023_5820_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology
Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y
Publication Date: 2022

Variant appearance in text: SMAD4: 988G>A; E330K
PubMed Link: 36505399
Variant Present in the following documents:
  • Table_2.xlsx, sheet 2
View BVdb publication page



Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: SMAD4: E330K
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.

Cell Reports
Ramakrishnan, Gopalakrishnan G; Parajuli, Parash P; Singh, Pura P; Friend, Creighton C; Hurwitz, Eric E; Prunier, Celine C; Razzaque, Mohammed S MS; Xu, Keli K; Atfi, Azeddine A
Publication Date: 2022-11-08

Variant appearance in text: SMAD4: E330K
PubMed Link: 36351408
Variant Present in the following documents:
  • NIHMS1848910-supplement-2.xlsx, sheet 3
View BVdb publication page



Phase I trial of the TNF-α inhibitor certolizumab plus chemotherapy in stage IV lung adenocarcinomas.

Nature Communications
Paik, Paul K PK; Luo, Jia J; Ai, Ni N; Kim, Rachel R; Ahn, Linda L; Biswas, Anup A; Coker, Courtney C; Ma, Wanchao W; Wong, Phillip P; Buonocore, Darren J DJ; Lai, W Victoria WV; Chaft, Jamie E JE; Acharyya, Swarnali S; Massagué, Joan J; Kris, Mark G MG
Publication Date: 2022-10-15

Variant appearance in text: SMAD4: 988G>A; E330K
PubMed Link: 36241629
Variant Present in the following documents:
  • 41467_2022_33719_MOESM1_ESM.pdf
View BVdb publication page



CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: SMAD4: E330K
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: SMAD4: 988G>A; E330K
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: SMAD4: 988G>A; E330K
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
View BVdb publication page



Paclitaxel and cisplatin with or without cetuximab in metastatic esophageal squamous cell carcinoma: a randomized, multicenter phase II trial.

Innovation (Cambridge (Mass.))
Lu, Zhihao Z; Zhang, Yanqiao Y; Fan, Qingxia Q; Pan, Yueyin Y; Jiang, Da D; Lu, Ping P; Zhang, Jingdong J; Yuan, Xianglin X; Feng, Jifeng J; Yang, Shujun S; Yue, Wenbin W; Zhao, Lin L; Xu, Yunhua Y; Luo, Jinhua J; Shen, Lin L
Publication Date: 2022-05-10

Variant appearance in text: SMAD4: 988G>A; E330K
PubMed Link: 35509869
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: SMAD4: 988G>A; E330K
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Crizotinib in patients with tumors harboring ALK or ROS1 rearrangements in the NCI-MATCH trial.

Npj Precision Oncology
Mansfield, A S AS; Wei, Z Z; Mehra, R R; Shaw, A T AT; Lieu, C H CH; Forde, P M PM; Drilon, A E AE; Mitchell, E P EP; Wright, J J JJ; Takebe, N N; Sharon, E E; Hovelson, D D; Tomlins, S S; Zeng, J J; Poorman, K K; Malik, N N; Gray, R J RJ; Li, S S; McShane, L M LM; Rubinstein, L V LV; Patton, D D; Williams, P M PM; Hamilton, S R SR; Conley, B A BA; Arteaga, C L CL; Harris, L N LN; O'Dwyer, P J PJ; Chen, A P AP; Flaherty, K T KT
Publication Date: 2022-03-01

Variant appearance in text: SMAD4: Glu330Lys
PubMed Link: 35233056
Variant Present in the following documents:
  • 41698_2022_256_MOESM1_ESM.pdf
View BVdb publication page



Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
Publication Date: 2022-06

Variant appearance in text: SMAD4: E330K
PubMed Link: 35165384
Variant Present in the following documents:
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
  • NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: SMAD4: E330K
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2021-07-13

Variant appearance in text: SMAD4: E330K
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2022-02

Variant appearance in text: SMAD4: E330K
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Analysis and Interpretation of the Impact of Missense Variants in Cancer.

International Journal Of Molecular Sciences
Petrosino, Maria M; Novak, Leonore L; Pasquo, Alessandra A; Chiaraluce, Roberta R; Turina, Paola P; Capriotti, Emidio E; Consalvi, Valerio V
Publication Date: 2021-05-21

Variant appearance in text: SMAD4: E330K
PubMed Link: 34063805
Variant Present in the following documents:
  • Main text
  • ijms-22-05416.pdf
View BVdb publication page



A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Ebiomedicine
Hoyer, K K; Hablesreiter, R R; Inoue, Y Y; Yoshida, K K; Briest, F F; Christen, F F; Kakiuchi, N N; Yoshizato, T T; Shiozawa, Y Y; Shiraishi, Y Y; Striefler, J K JK; Bischoff, S S; Lohneis, P P; Putter, H H; Blau, O O; Keilholz, U U; Bullinger, L L; Pelzer, U U; Hummel, M M; Riess, H H; Ogawa, S S; Sinn, M M; Damm, F F
Publication Date: 2021-04

Variant appearance in text: SMAD4: E330K
PubMed Link: 33862582
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: SMAD4: 988G>A; E330K
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Clinical benefit for clinical sequencing using cancer panel testing.

Plos One
Nishimura, Sadaaki S; Sugimoto, Atsushi A; Kushiyama, Shuhei S; Togano, Shingo S; Kuroda, Kenji K; Yamamoto, Yurie Y; Yamauchi, Makoto M; Sumi, Toshiyuki T; Kaneda, Hiroyasu H; Kawaguchi, Tomoya T; Kato, Minoru M; Tagami, Mizuki M; Oebisu, Naoto N; Hoshi, Manabu M; Kimura, Kenjiro K; Kubo, Shoji S; Muguruma, Kazuya K; Takashima, Tsutomu T; Ohira, Masaichi M; Yashiro, Masakazu M
Publication Date: 2021

Variant appearance in text: SMAD4: E330K
PubMed Link: 33635883
Variant Present in the following documents:
  • pone.0247090.s006.xlsx, sheet 1
View BVdb publication page



Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Publication Date: 2021-04-01

Variant appearance in text: SMAD4: E330K
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
View BVdb publication page



Patient-derived organoids in cellulosic sponge model chemotherapy response of metastatic colorectal cancer.

Clinical And Translational Medicine
Xu, Yanjie Y; Chen, Jianjun J; Huang, Yizhou Y; Luo, Yang Y; Hsieh, An-Chih AC; Chen, Jianyi J; Li, Han H; Wei, Xunbin X; Gao, Wei-Qiang WQ; Zhong, Ming M; Zhang, Yan Y
Publication Date: 2021-01

Variant appearance in text: SMAD4: E330K; rs377767342
PubMed Link: 33463056
Variant Present in the following documents:
  • CTM2-11-e285-s003.xlsx, sheet 8
  • CTM2-11-e285-s003.xlsx, sheet 7
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: SMAD4: 988G>A; E330K
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: SMAD4: E330K
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s003.xlsx, sheet 1
View BVdb publication page



Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Nature Communications
Pandey, Akhilesh A; Stawiski, Eric W EW; Durinck, Steffen S; Gowda, Harsha H; Goldstein, Leonard D LD; Barbhuiya, Mustafa A MA; Schröder, Markus S MS; Sreenivasamurthy, Sreelakshmi K SK; Kim, Sun-Whe SW; Phalke, Sameer S; Suryamohan, Kushal K; Lee, Kayla K; Chakraborty, Papia P; Kode, Vasumathi V; Shi, Xiaoshan X; Chatterjee, Aditi A; Datta, Keshava K; Khan, Aafaque A AA; Subbannayya, Tejaswini T; Wang, Jing J; Chaudhuri, Subhra S; Gupta, Sanjiv S; Shrivastav, Braj Raj BR; Jaiswal, Bijay S BS; Poojary, Satish S SS; Bhunia, Shushruta S; Garcia, Patricia P; Bizama, Carolina C; Rosa, Lorena L; Kwon, Wooil W; Kim, Hongbeom H; Han, Youngmin Y; Yadav, Thakur Deen TD; Ramprasad, Vedam L VL; Chaudhuri, Amitabha A; Modrusan, Zora Z; Roa, Juan Carlos JC; Tiwari, Pramod Kumar PK; Jang, Jin-Young JY; Seshagiri, Somasekar S
Publication Date: 2020-08-24

Variant appearance in text: SMAD4: E330K
PubMed Link: 32839463
Variant Present in the following documents:
  • 41467_2020_17880_MOESM5_ESM.xlsx, sheet 1
  • 41467_2020_17880_MOESM1_ESM.pdf
  • 41467_2020_17880_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Publication Date: 2020-07-30

Variant appearance in text: SMAD4: E330K
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



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: SMAD4: E330K; rs377767342
PubMed Link: 32719455
Variant Present in the following documents:
  • 41422_2020_375_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: SMAD4: E330K
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Identification of Altered Genes in Gallbladder Cancer as Potential Driver Mutations for Diagnostic and Prognostic Purposes: A Computational Approach.

Cancer Informatics
D'Afonseca, Vívian V; Arencibia, Ariel D AD; Echeverría-Vega, Alex A; Cerpa, Leslie L; Cayún, Juan P JP; Varela, Nelson M NM; Salazar, Marcela M; Quiñones, Luis A LA
Publication Date: 2020

Variant appearance in text: SMAD4: E330K
PubMed Link: 32546937
Variant Present in the following documents:
  • Main text
  • 10.1177_1176935120922154.pdf
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: SMAD4: E330K
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: SMAD4: E330K
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: SMAD4: 988G>A; E330K
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Clinical significance of stromal ER and PR expression in periampullary adenocarcinoma.

Biomarker Research
Andersson, Gustav G; Lundgren, Sebastian S; Heby, Margareta M; Nodin, Björn B; Elebro, Jacob J; Jirström, Karin K
Publication Date: 2019

Variant appearance in text: SMAD4: 988G>A; Glu330Lys
PubMed Link: 31827798
Variant Present in the following documents:
  • 40364_2019_176_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: SMAD4: E330K
PubMed Link: 31515488
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_11959.pdf
  • 41467_2019_11959_MOESM2_ESM.pdf
View BVdb publication page



Organoids from colorectal peritoneal metastases as a platform for improving hyperthermic intraperitoneal chemotherapy.

The British Journal Of Surgery
Ubink, I I; Bolhaqueiro, A C F ACF; Elias, S G SG; Raats, D A E DAE; Constantinides, A A; Peters, N A NA; Wassenaar, E C E ECE; de Hingh, I H J T IHJT; Rovers, K P KP; van Grevenstein, W M U WMU; Laclé, M M MM; Kops, G J P L GJPL; Borel Rinkes, I H M IHM; Kranenburg, O O
Publication Date: 2019-09

Variant appearance in text: SMAD4: E330K
PubMed Link: 31197820
Variant Present in the following documents:
  • BJS-106-1404.pdf
View BVdb publication page



Analysis of error profiles in deep next-generation sequencing data.

Genome Biology
Ma, Xiaotu X; Shao, Ying Y; Tian, Liqing L; Flasch, Diane A DA; Mulder, Heather L HL; Edmonson, Michael N MN; Liu, Yu Y; Chen, Xiang X; Newman, Scott S; Nakitandwe, Joy J; Li, Yongjin Y; Li, Benshang B; Shen, Shuhong S; Wang, Zhaoming Z; Shurtleff, Sheila S; Robison, Leslie L LL; Levy, Shawn S; Easton, John J; Zhang, Jinghui J
Publication Date: 2019-03-14

Variant appearance in text: SMAD4: E330K
PubMed Link: 30867008
Variant Present in the following documents:
  • 13059_2019_1659_MOESM1_ESM.xlsx, sheet 7
View BVdb publication page



Clinicopathological characterization of SMAD4-mutated intestinal adenocarcinomas: A case-control study.

Plos One
Liao, Xiaoyan X; Hao, Yansheng Y; Zhang, Xiaofei X; Ward, Stephen S; Houldsworth, Jane J; Polydorides, Alexandros D AD; Harpaz, Noam N
Publication Date: 2019

Variant appearance in text: SMAD4: 988G>A; E330K
PubMed Link: 30730996
Variant Present in the following documents:
  • pone.0212142.s001.xlsx, sheet 1
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: SMAD4: E330K
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget
Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J
Publication Date: 2018-06-08

Variant appearance in text: rs377767342
PubMed Link: 29937994
Variant Present in the following documents:
  • oncotarget-09-27412-s004.xlsx, sheet 1
View BVdb publication page



Comprehensive immunoproteogenomic analyses of malignant pleural mesothelioma.

Jci Insight
Lee, Hyun-Sung HS; Jang, Hee-Jin HJ; Choi, Jong Min JM; Zhang, Jun J; de Rosen, Veronica Lenge VL; Wheeler, Thomas M TM; Lee, Ju-Seog JS; Tu, Thuydung T; Jindra, Peter T PT; Kerman, Ronald H RH; Jung, Sung Yun SY; Kheradmand, Farrah F; Sugarbaker, David J DJ; Burt, Bryan M BM
Publication Date: 2018-04-05

Variant appearance in text: SMAD4: E330K
PubMed Link: 29618661
Variant Present in the following documents:
  • jciinsight-3-98575-s002.xlsx, sheet 1
View BVdb publication page



Pattern of p53 protein expression is predictive for survival in chemoradiotherapy-naive esophageal adenocarcinoma.

Oncotarget
Ten Kate, Fiebo J C FJC; Suzuki, Lucia L; Dorssers, Lambert C J LCJ; Dinjens, Winand N M WNM; Jones, David T W DTW; Nieboer, Daan D; Doukas, Michael M; Van Lanschot, J Jan B JJB; Wijnhoven, Bas P L BPL; Looijenga, Leendert H J LHJ; Biermann, Katharina K
Publication Date: 2017-11-28

Variant appearance in text: SMAD4: 988G>A; E330K
PubMed Link: 29262626
Variant Present in the following documents:
  • oncotarget-08-104123-s002.xlsx, sheet 1
View BVdb publication page



Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis.

Plos Medicine
Lefebvre, Celine C; Bachelot, Thomas T; Filleron, Thomas T; Pedrero, Marion M; Campone, Mario M; Soria, Jean-Charles JC; Massard, Christophe C; Lévy, Christelle C; Arnedos, Monica M; Lacroix-Triki, Magali M; Garrabey, Julie J; Boursin, Yannick Y; Deloger, Marc M; Fu, Yu Y; Commo, Frédéric F; Scott, Véronique V; Lacroix, Ludovic L; Dieci, Maria Vittoria MV; Kamal, Maud M; Diéras, Véronique V; Gonçalves, Anthony A; Ferrerro, Jean-Marc JM; Romieu, Gilles G; Vanlemmens, Laurence L; Mouret Reynier, Marie-Ange MA; Théry, Jean-Christophe JC; Le Du, Fanny F; Guiu, Séverine S; Dalenc, Florence F; Clapisson, Gilles G; Bonnefoi, Hervé H; Jimenez, Marta M; Le Tourneau, Christophe C; André, Fabrice F
Publication Date: 2016-12

Variant appearance in text: SMAD4: Glu330Lys; rs377767342
PubMed Link: 28027327
Variant Present in the following documents:
  • pmed.1002201.s012.xlsx, sheet 1
View BVdb publication page



Targeted DNA Sequencing Reveals Patterns of Local Progression in the Pancreatic Remnant Following Resection of Intraductal Papillary Mucinous Neoplasm (IPMN) of the Pancreas.

Annals Of Surgery
Pea, Antonio A; Yu, Jun J; Rezaee, Neda N; Luchini, Claudio C; He, Jin J; Dal Molin, Marco M; Griffin, James F JF; Fedor, Helen H; Fesharakizadeh, Shahriar S; Salvia, Roberto R; Weiss, Matthew J MJ; Bassi, Claudio C; Cameron, John L JL; Zheng, Lei L; Scarpa, Aldo A; Hruban, Ralph H RH; Lennon, Anne Marie AM; Goggins, Michael M; Wolfgang, Christopher L CL; Wood, Laura D LD
Publication Date: 2017-07

Variant appearance in text: SMAD4: E330K
PubMed Link: 27433916
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: SMAD4: 988G>A; E330K
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: SMAD4: E330K
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.

Journal Of Translational Medicine
Dallol, Ashraf A; Buhmeida, Abdelbaset A; Al-Ahwal, Mahmoud Shaheen MS; Al-Maghrabi, Jaudah J; Bajouh, Osama O; Al-Khayyat, Shadi S; Alam, Rania R; Abusanad, Atlal A; Turki, Rola R; Elaimi, Aisha A; Alhadrami, Hani A HA; Abuzenadah, Mohammed M; Banni, Huda H; Al-Qahtani, Mohammed H MH; Abuzenadah, Adel M AM
Publication Date: 2016-05-04

Variant appearance in text: SMAD4: Glu330Lys
PubMed Link: 27146902
Variant Present in the following documents:
  • Main text
  • 12967_2016_Article_878.pdf
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: SMAD4: E330K
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: SMAD4: E330K
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



Unique molecular signatures as a hallmark of patients with metastatic breast cancer: implications for current treatment paradigms.

Oncotarget
Wheler, Jennifer J JJ; Parker, Barbara A BA; Lee, Jack J JJ; Atkins, Johnique T JT; Janku, Filip F; Tsimberidou, Apostolia M AM; Zinner, Ralph R; Subbiah, Vivek V; Fu, Siqing S; Schwab, Richard R; Moulder, Stacy S; Valero, Vicente V; Schwaederle, Maria M; Yelensky, Roman R; Miller, Vincent A VA; Stephens, M Philip J MP; Meric-Bernstam, Funda F; Kurzrock, Razelle R
Publication Date: 2014-05-15

Variant appearance in text: SMAD4: E330K
PubMed Link: 24811890
Variant Present in the following documents:
  • oncotarget-05-2349-s001.pdf
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: SMAD4: E330K
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page