Publications:

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Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications

Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G

Publication Date: 2023-03-11

Variant appearance in text: SMAD4: 1081C>T; Arg361Cys

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery

Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI

Publication Date: 2023-03-02

Variant appearance in text: SMAD4: 1081C>T; Arg361Cys; rs80338963

PubMed Link: 36862804

Variant Present in the following documents:

• cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6

View BVdb publication page

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Multilevel proteomic analyses reveal molecular diversity between diffuse-type and intestinal-type gastric cancer.

Nature Communications

Shi, Wenhao W; Wang, Yushen Y; Xu, Chen C; Li, Yan Y; Ge, Sai S; Bai, Bin B; Zhang, Kecheng K; Wang, Yunzhi Y; Zheng, Nairen N; Wang, Juan J; Wang, Shiqi S; Ji, Gang G; Li, Jipeng J; Nie, Yongzhan Y; Liang, Wenquan W; Wu, Xiaosong X; Cui, Jianxin J; Wang, Yi Y; Chen, Lin L; Zhao, Qingchuan Q; Shen, Lin L; He, Fuchu F; Qin, Jun J; Ding, Chen C

Publication Date: 2023-02-14

Variant appearance in text: SMAD4: 1081C>T; Arg361Cys

PubMed Link: 36788224

Variant Present in the following documents:

• 41467_2023_35797_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Single-cell RNA sequencing reveals the effects of chemotherapy on human pancreatic adenocarcinoma and its tumor microenvironment.

Nature Communications

Werba, Gregor G; Weissinger, Daniel D; Kawaler, Emily A EA; Zhao, Ende E; Kalfakakou, Despoina D; Dhara, Surajit S; Wang, Lidong L; Lim, Heather B HB; Oh, Grace G; Jing, Xiaohong X; Beri, Nina N; Khanna, Lauren L; Gonda, Tamas T; Oberstein, Paul P; Hajdu, Cristina C; Loomis, Cynthia C; Heguy, Adriana A; Sherman, Mara H MH; Lund, Amanda W AW; Welling, Theodore H TH; Dolgalev, Igor I; Tsirigos, Aristotelis A; Simeone, Diane M DM

Publication Date: 2023-02-13

Variant appearance in text: SMAD4: R361C

PubMed Link: 36781852

Variant Present in the following documents:

• 41467_2023_36296_MOESM4_ESM.pdf

View BVdb publication page

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: SMAD4: R361C; rs80338963

PubMed Link: 36742322

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_8.xlsx, sheet 1

View BVdb publication page

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An innovative single-base extension method for synchronous detection of point mutations and MSI status in colorectal cancer.

Cancer Medicine

Liang, Li L; Li, Xin X; Nong, Lin L; Cai, Weijing W; Zhang, Jixin J; Liu, Ping P; Li, Ting T

Publication Date: 2022-12-30

Variant appearance in text: SMAD4: R361C

PubMed Link: 36583506

Variant Present in the following documents:

View BVdb publication page

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Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Frontiers In Oncology

Nguyen, Huu Thinh HT; Nguyen, Trieu Vu TV; Nguyen Hoang, Van-Anh VA; Tran, Duc Huy DH; Le Trinh, Ngoc An NA; Le, Minh Triet MT; Nguyen Tran, Tuan-Anh TA; Pham, Thanh Huyen TH; Dinh, Thi Cuc TC; Nguyen, Tien Sy TS; Nguyen The, Ky Cuong KC; Mai, Hoa H; Chu, Minh Tuan MT; Pham, Dinh Hoang DH; Nguyen, Xuan Chi XC; Ngo Ha, Thien My TM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do Thi, Thanh Thuy TT; Truong, Dinh Kiet DK; Nguyen, Quynh Tho QT; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN

Publication Date: 2022

Variant appearance in text: SMAD4: R361C

PubMed Link: 36578946

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

View BVdb publication page

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Distinct gastric phenotype in patients with pathogenic variants in SMAD4: A nationwide cross-sectional study.

Endoscopy International Open

Jelsig, Anne Marie AM; Qvist, Niels N; Bertelsen, Birgitte B; Christensen, Lise-Lotte LL; Grossjohan, Hanne H; Lautrup, Charlotte Kvist CK; Sunde, Lone L; Tørring, Pernille Mathiesen PM; Ljungman, Ken K; Christensen, Louise Torp LT; Karstensen, John Gásdal JG

Publication Date: 2022-12

Variant appearance in text: SMAD4: 1081C>T; Arg361Cys

PubMed Link: 36531685

Variant Present in the following documents:

• 2768supmat_10-1055-a-1954-0522.pdf

View BVdb publication page

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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: 1081C>T; R361C

PubMed Link: 36505399

Variant Present in the following documents:

• Table_2.xlsx, sheet 3
• Table_2.xlsx, sheet 2

View BVdb publication page

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Epithelial TGFβ engages growth-factor signalling to circumvent apoptosis and drive intestinal tumourigenesis with aggressive features.

Nature Communications

Flanagan, Dustin J DJ; Amirkhah, Raheleh R; Vincent, David F DF; Gundaz, Nuray N; Gentaz, Pauline P; Cammareri, Patrizia P; McCooey, Aoife J AJ; McCorry, Amy M B AMB; Fisher, Natalie C NC; Davis, Hayley L HL; Ridgway, Rachel A RA; Lohuis, Jeroen J; Leach, Joshua D G JDG; Jackstadt, Rene R; Gilroy, Kathryn K; Mariella, Elisa E; Nixon, Colin C; Clark, William W; Hedley, Ann A; Markert, Elke K EK; Strathdee, Douglas D; Bartholin, Laurent L; Redmond, Keara L KL; Kerr, Emma M EM; Longley, Daniel B DB; Ginty, Fiona F; Cho, Sanghee S; Coleman, Helen G HG; Loughrey, Maurice B MB; Bardelli, Alberto A; Maughan, Timothy S TS; Campbell, Andrew D AD; Lawler, Mark M; Leedham, Simon J SJ; Barry, Simon T ST; Inman, Gareth J GJ; van Rheenen, Jacco J; Dunne, Philip D PD; Sansom, Owen J OJ

Publication Date: 2022-12-07

Variant appearance in text: SMAD4: R361C

PubMed Link: 36477656

Variant Present in the following documents:

• 41467_2022_35134_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Molecular diagnosis of pancreatobiliary tract cancer by detecting mutations and methylation changes in bile samples.

Eclinicalmedicine

He, Shun S; Zeng, Fanxin F; Yin, Huihui H; Wang, Pei P; Bai, Yinlei Y; Song, Qianqian Q; Chu, Jiangtao J; Huang, Zhen Z; Liu, Yumeng Y; Liu, Hong H; Chen, Qichen Q; Liu, Li L; Zhou, Jun J; Hu, Hanjie H; Li, Xingchen X; Li, Tengyan T; Wang, Guiqi G; Cai, Jianqiang J; Jiao, Yuchen Y; Zhao, Hong H

Publication Date: 2023-01

Variant appearance in text: SMAD4: 1081C>T; Arg361Cys

PubMed Link: 36425869

Variant Present in the following documents:

• mmc1.xlsx, sheet 8
• mmc1.xlsx, sheet 4

View BVdb publication page

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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: R361C

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular characterization of acquired resistance to KRAS G12C-EGFR inhibition in colorectal cancer.

Cancer Discovery

Yaeger, Rona R; Mezzadra, Riccardo R; Sinopoli, Jenna J; Bian, Yu Y; Marasco, Michelangelo M; Kaplun, Esther E; Gao, Yijun Y; Zhao, HuiYong H; Da Cruz Paula, Arnaud A; Zhu, Yingjie Y; Chaves Perez, Almudena A; Chadalavada, Kalyani K; Tse, Edison E; Chowdhry, Sudhir S; Bowker, Sydney S; Chang, Qing Q; Qeriqi, Besnik B; Weigelt, Britta B; Nanjangud, Gouri J GJ; Berger, Michael F MF; Der-Torossian, Hirak H; Anderes, Kenna K; Socci, Nicholas D ND; Shia, Jinru J; Riely, Gregory J GJ; Murciano-Goroff, Yonina R YR; Li, Bob T BT; Christensen, James G JG; Reis-Filho, Jorge S JS; Solit, David B DB; de Stanchina, Elisa E; Lowe, Scott W SW; Rosen, Neal N; Misale, Sandra S

Publication Date: 2022-11-10

Variant appearance in text: SMAD4: R361C

PubMed Link: 36355783

Variant Present in the following documents:

• cd-22-0405_supplementary_figure_3_suppsf3.pdf

View BVdb publication page

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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: 1081C>T; R361C

PubMed Link: 36351408

Variant Present in the following documents:

• NIHMS1848910-supplement-2.xlsx, sheet 3

View BVdb publication page

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: SMAD4: 1081C>T; R361C

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic landscape of lung cancer in the young.

Frontiers In Oncology

Ruiz, Rossana R; Galvez-Nino, Marco M; Roque, Katia K; Montes, Jaime J; Nuñez, Maria M; Raez, Luis L; Sánchez-Gambetta, Sergio S; Jaúregui, Sandra S; Viale, Sandra S; Smith, Edward S ES; Pinto, Joseph A JA; Mas, Luis L

Publication Date: 2022

Variant appearance in text: SMAD4: R361C

PubMed Link: 36263208

Variant Present in the following documents:

• DataSheet_2.pdf

View BVdb publication page

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Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.

Life Science Alliance

Hlaváč, Viktor V; Holý, Petr P; Václavíková, Radka R; Rob, Lukáš L; Hruda, Martin M; Mrhalová, Marcela M; Černaj, Petr P; Bouda, Jiří J; Souček, Pavel P

Publication Date: 2022-10-13

Variant appearance in text: SMAD4: Arg361Cys

PubMed Link: 36229065

Variant Present in the following documents:

• LSA-2022-01551_TableS16.xlsx, sheet 1

View BVdb publication page

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Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Pathobiology : Journal Of Immunopathology, Molecular And Cellular Biology

Haefliger, Simon S; Marston, Katharina K; Alborelli, Ilaria I; Stauffer, Edouard-Jean EJ; Gugger, Mathias M; Jermann, Philip M PM; Hoeller, Sylvia S; Tornillo, Luigi L; Terracciano, Luigi M LM; Bihl, Michel M; Matter, Matthias S MS

Publication Date: 2022-10-06

Variant appearance in text: SMAD4: R361C

PubMed Link: 36202073

Variant Present in the following documents:

• pat-0090-0166-s01.pdf

View BVdb publication page

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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: R361C

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Ultrasensitive tumour-agnostic non-invasive detection of colorectal cancer recurrence using ctDNA methylation.

Clinical And Translational Medicine

Xiao, Yu Y; Wang, Xiaodong X; Weng, Hong H; Ding, Zhao Z; Qian, Kaiyu K; Jin, Wan W; Lu, Sen S; Ju, Lingao L; He, Zhiwen Z; Wang, Gang G; Xie, Xiaoyu X; Liu, Dongmei D; Fan, Zhou Z; Wu, Kai K; Li, Sheng S; Guo, Huanhuan H; Qian, Guofeng G; Jiang, Wei W; Leng, Yunji Y; Zhao, Junpeng J; Cao, Xinyue X; Peng, Minsheng M; Jiang, Congqing C; Li, Li L; Zhang, Yi Y; Wang, Xinghuan X

Publication Date: 2022-09

Variant appearance in text: SMAD4: 1081C>T; R361C

PubMed Link: 36103400

Variant Present in the following documents:

• CTM2-12-e1015-s002.xlsx, sheet 1

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: SMAD4: R361C

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Molecular characterization of colorectal cancer related peritoneal metastatic disease.

Nature Communications

Lenos, Kristiaan J KJ; Bach, Sander S; Ferreira Moreno, Leandro L; Ten Hoorn, Sanne S; Sluiter, Nina R NR; Bootsma, Sanne S; Vieira Braga, Felipe A FA; Nijman, Lisanne E LE; van den Bosch, Tom T; Miedema, Daniel M DM; van Dijk, Erik E; Ylstra, Bauke B; Kulicke, Ruth R; Davis, Fred P FP; Stransky, Nicolas N; Smolen, Gromoslaw A GA; Coebergh van den Braak, Robert R J RRJ; IJzermans, Jan N M JNM; Martens, John W M JWM; Hallam, Sally S; Beggs, Andrew D AD; Kops, Geert J P L GJPL; Lansu, Nico N; Bastiaenen, Vivian P VP; Klaver, Charlotte E L CEL; Lecca, Maria C MC; El Makrini, Khalid K; Elbers, Clara C CC; Dings, Mark P G MPG; van Noesel, Carel J M CJM; Kranenburg, Onno O; Medema, Jan Paul JP; Koster, Jan J; Koens, Lianne L; Punt, Cornelis J A CJA; Tanis, Pieter J PJ; de Hingh, Ignace H IH; Bijlsma, Maarten F MF; Tuynman, Jurriaan B JB; Vermeulen, Louis L

Publication Date: 2022-08-04

Variant appearance in text: SMAD4: R361C

PubMed Link: 35927254

Variant Present in the following documents:

• 41467_2022_32198_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.

Scientific Reports

Huang, Fuxue F; Li, Jingjing J; Wen, Xizhi X; Zhu, Baoyan B; Liu, Wei W; Wang, Jiuhong J; Jiang, Hang H; Ding, Ya Y; Li, Dandan D; Zhang, Xiaoshi X

Publication Date: 2022-06-10

Variant appearance in text: SMAD4: 1081C>T; R361C; rs80338963

PubMed Link: 35688842

Variant Present in the following documents:

• 41598_2022_13391_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Fundamental immune-oncogenicity trade-offs define driver mutation fitness.

Nature

Hoyos, David D; Zappasodi, Roberta R; Schulze, Isabell I; Sethna, Zachary Z; de Andrade, Kelvin César KC; Bajorin, Dean F DF; Bandlamudi, Chaitanya C; Callahan, Margaret K MK; Funt, Samuel A SA; Hadrup, Sine R SR; Holm, Jeppe S JS; Rosenberg, Jonathan E JE; Shah, Sohrab P SP; Vázquez-García, Ignacio I; Weigelt, Britta B; Wu, Michelle M; Zamarin, Dmitriy D; Campitelli, Laura F LF; Osborne, Edward J EJ; Klinger, Mark M; Robins, Harlan S HS; Khincha, Payal P PP; Savage, Sharon A SA; Balachandran, Vinod P VP; Wolchok, Jedd D JD; Hellmann, Matthew D MD; Merghoub, Taha T; Levine, Arnold J AJ; Łuksza, Marta M; Greenbaum, Benjamin D BD

Publication Date: 2022-06

Variant appearance in text: SMAD4: R361C

PubMed Link: 35545680

Variant Present in the following documents:

• 41586_2022_4696_MOESM1_ESM.pdf

View BVdb publication page

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Next-Generation Sequencing in Lung Cancer Patients: A Comparative Approach in NSCLC and SCLC Mutational Landscapes.

Journal Of Personalized Medicine

Pop-Bica, Cecilia C; Ciocan, Cristina Alexandra CA; Braicu, Cornelia C; Haranguș, Antonia A; Simon, Marioara M; Nutu, Andreea A; Pop, Laura Ancuta LA; Slaby, Ondrej O; Atanasov, Atanas G AG; Pirlog, Radu R; Al Hajjar, Nadim N; Berindan-Neagoe, Ioana I

Publication Date: 2022-03-13

Variant appearance in text: SMAD4: 1081C>T; Arg361Cys

PubMed Link: 35330454

Variant Present in the following documents:

• jpm-12-00453.pdf

View BVdb publication page

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Evaluation of Targeted Next-Generation Sequencing for the Management of Patients Diagnosed with a Cancer of Unknown Primary.

The Oncologist

Fusco, Michael J MJ; Knepper, Todd C TC; Balliu, Juliana J; Del Cueto, Alex A; Laborde, Jose M JM; Hooda, Sharjeel M SM; Brohl, Andrew S AS; Bui, Marilyn M MM; Hicks, J Kevin JK

Publication Date: 2022-02-03

Variant appearance in text: SMAD4: R361C

PubMed Link: 35305098

Variant Present in the following documents:

• oyab014_suppl_supplementary_appendix_1.xlsx, sheet 1

View BVdb publication page

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Dynamic changes in gene alterations during chemotherapy in metastatic castrate resistant prostate cancer.

Scientific Reports

Tan, Winston W; Zheng, Tiantian T; Wang, Amy A; Roacho, Joanna J; Thao, Seng S; Du, Pan P; Jia, Shidong S; Yu, Jianjun J; King, Bonnie L BL; Kohli, Manish M

Publication Date: 2022-03-18

Variant appearance in text: SMAD4: 1081C>T; Arg361Cys

PubMed Link: 35304525

Variant Present in the following documents:

• 41598_2022_8520_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: 1081C>T; R361C

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Early dynamics of circulating tumor DNA predict clinical response to immune checkpoint inhibitors in metastatic renal cell carcinoma.

International Journal Of Urology : Official Journal Of The Japanese Urological Association

Koh, Yoko Y; Nakano, Kosuke K; Katayama, Kotoe K; Yamamichi, Gaku G; Yumiba, Satoru S; Tomiyama, Eisuke E; Matsushita, Makoto M; Hayashi, Yujiro Y; Yamamoto, Yoshiyuki Y; Kato, Taigo T; Hatano, Koji K; Kawashima, Atsunari A; Ujike, Takeshi T; Imamura, Ryoichi R; Yamaguchi, Rui R; Imoto, Seiya S; Shiotsu, Yukimasa Y; Nonomura, Norio N; Uemura, Motohide M

Publication Date: 2022-05

Variant appearance in text: SMAD4: 1081C>T; R361C; rs80338963

PubMed Link: 35184335

Variant Present in the following documents:

• IJU-29-462-s002.xlsx, sheet 1

View BVdb publication page

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Colonic Adenocarcinoma with Plasmacytoid Feature: Histopathology and Molecular Characteristics of a Rare Neoplasm with an Unusual Presentation.

Case Reports In Pathology

Marji, Noor N; Dhillon, Jasrerman J; Lauwers, Gregory Y GY; Feuerlein, Sebastian S; Nikfar, Reza R; Chatwal, Monica M; Vosoughi, Aram A

Publication Date: 2022

Variant appearance in text: SMAD4: R361C

PubMed Link: 35178262

Variant Present in the following documents:

• Main text
• CRIPA2022-2640456.pdf

View BVdb publication page

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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: R361C

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

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Branching Copy-Number Evolution and Parallel Immune Profiles across the Regional Tumor Space of Resected Pancreatic Cancer.

Molecular Cancer Research : Mcr

Petersson, Alexandra A; Andersson, Natalie N; Hau, Sofie Olsson SO; Eberhard, Jakob J; Karlsson, Jenny J; Chattopadhyay, Subhayan S; Valind, Anders A; Elebro, Jacob J; Nodin, Björn B; Leandersson, Karin K; Gisselsson, David D; Jirström, Karin K

Publication Date: 2022-05-04

Variant appearance in text: SMAD4: 1081C>T; R361C

PubMed Link: 35149544

Variant Present in the following documents:

• mcr-21-0986_supplementary_file_4_suppsm4.xlsx, sheet 5

View BVdb publication page

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Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports

Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C

Publication Date: 2022-02-09

Variant appearance in text: SMAD4: R361C

PubMed Link: 35140316

Variant Present in the following documents:

• 41598_2022_6239_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports

Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C

Publication Date: 2022-02-09

Variant appearance in text: SMAD4: R361C

PubMed Link: 35140316

Variant Present in the following documents:

• 41598_2022_6239_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology

Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X

Publication Date: 2021

Variant appearance in text: SMAD4: 1081C>T; R361C

PubMed Link: 35087742

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology

Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H

Publication Date: 2021-12-15

Variant appearance in text: SMAD4: 1081C>T; Arg361Cys

PubMed Link: 34912045

Variant Present in the following documents:

• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology

Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H

Publication Date: 2021-12-15

Variant appearance in text: SMAD4: 1081C>T; Arg361Cys

PubMed Link: 34912045

Variant Present in the following documents:

• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

---

Comparable genetic alteration profiles between gastric cancers with current and past Helicobacter pylori infection.

Scientific Reports

Tsuyuki, Sho S; Takeshima, Hideyuki H; Sekine, Shigeki S; Yamagata, Yukinori Y; Ando, Takayuki T; Yamashita, Satoshi S; Maeda, Shin S; Yoshikawa, Takaki T; Ushijima, Toshikazu T

Publication Date: 2021-12-06

Variant appearance in text: SMAD4: 1081C>T; Arg361Cys

PubMed Link: 34873204

Variant Present in the following documents:

• Main text

View BVdb publication page

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Real-world data analysis of patients with cancer of unknown primary.

Scientific Reports

Kang, Sora S; Jeong, Jae Ho JH; Yoon, Shinkyo S; Yoo, Changhoon C; Kim, Kyu-Pyo KP; Cho, Hyungwoo H; Ryoo, Baek-Yeol BY; Jung, Jinhong J; Kim, Jeong Eun JE

Publication Date: 2021-11-29

Variant appearance in text: SMAD4: R361C

PubMed Link: 34845302

Variant Present in the following documents:

• 41598_2021_2543_MOESM1_ESM.pdf

View BVdb publication page

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Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-11-25

Variant appearance in text: SMAD4: R361C

PubMed Link: 34839264

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-12

Variant appearance in text: SMAD4: R361C

PubMed Link: 34839264

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

---

Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: SMAD4: 1081C>T; Arg361Cys

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

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Genomic Landscape in Neoplasm-Like Stroma Reveals Distinct Prognostic Subtypes of Pancreatic Ductal Adenocarcinoma.

Frontiers In Oncology

Jiang, Jiahong J; Xu, Yaping Y; Chang, Lianpeng L; Ru, Guoqing G; Xia, Xuefeng X; Yang, Ling L; Yi, Xin X; Chen, Zheling Z; Huang, Dong-Sheng DS; Yang, Liu L

Publication Date: 2021

Variant appearance in text: SMAD4: 1081C>T; R361C

PubMed Link: 34733795

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Comprehensive Analysis of the Expression of TGF-β Signaling Regulators and Prognosis in Human Esophageal Cancer.

Computational And Mathematical Methods In Medicine

Song, Wei W; Dai, Wei-Jie WJ; Zhang, Meng-Hui MH; Wang, Han H; Yang, Xiao-Zhong XZ

Publication Date: 2021

Variant appearance in text: SMAD4: R361C

PubMed Link: 34725559

Variant Present in the following documents:

• CMMM2021-1812227.pdf

View BVdb publication page

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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: R361C

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

---

Indication-specific tumor evolution and its impact on neoantigen targeting and biomarkers for individualized cancer immunotherapies.

Journal For Immunotherapy Of Cancer

Lo, Amy A AA; Wallace, Andrew A; Oreper, Daniel D; Lounsbury, Nicolas N; Havnar, Charles C; Pechuan-Jorge, Ximo X; Wu, Thomas D TD; Bourgon, Richard R; Jones, Ryan R; Krogh, Katrina K; Yang, Guang-Yu GY; Zill, Oliver A OA

Publication Date: 2021-10

Variant appearance in text: SMAD4: R361C

PubMed Link: 34599029

Variant Present in the following documents:

• Main text
• jitc-2021-003001.pdf

View BVdb publication page

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Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.

Genome Medicine

Shin, GiWon G; Greer, Stephanie U SU; Hopmans, Erik E; Grimes, Susan M SM; Lee, HoJoon H; Zhao, Lan L; Miotke, Laura L; Suarez, Carlos C; Almeda, Alison F AF; Haraldsdottir, Sigurdis S; Ji, Hanlee P HP

Publication Date: 2021-09-06

Variant appearance in text: SMAD4: R361C; rs80338963

PubMed Link: 34488871

Variant Present in the following documents:

• 13073_2021_958_MOESM2_ESM.xlsx, sheet 15

View BVdb publication page

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Patterns of Whole Exome Sequencing in Resected Cholangiocarcinoma.

Cancers

Thornblade, Lucas W LW; Wong, Paul P; Li, Daneng D; Warner, Susanne G SG; Chang, Sue S; Raoof, Mustafa M; Kessler, Jonathan J; Amini, Arya A; Lin, James J; Chung, Vincent V; Singh, Gagandeep G; Fong, Yuman Y; Melstrom, Laleh G LG

Publication Date: 2021-08-12

Variant appearance in text: SMAD4: R361C

PubMed Link: 34439216

Variant Present in the following documents:

• Main text
• cancers-13-04062.pdf

View BVdb publication page

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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: 1081C>T; R361C

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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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: 1081C>T; R361C

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

---

Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Frontiers In Oncology

Zhang, Shirong S; Xu, Yang Y; Zhao, Pan P; Bao, Hua H; Wang, Xiyong X; Liu, Rui R; Xu, Rujun R; Xiang, Jingjing J; Jiang, Hong H; Yan, Junrong J; Wu, Xue X; Shao, Yang Y; Liang, Jiafeng J; Wu, Qiong Q; Zhang, Zhihao Z; Lu, Shun S; Ma, Shenglin S

Publication Date: 2021

Variant appearance in text: SMAD4: 1081C>T; R361C

PubMed Link: 34221970

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

---

EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Frontiers In Oncology

Jin, Rui R; Peng, Ling L; Shou, Jiawei J; Wang, Jin J; Jin, Yin Y; Liang, Fei F; Zhao, Jing J; Wu, Mengmeng M; Li, Qin Q; Zhang, Bin B; Wu, Xiaoying X; Lan, Fen F; Xia, Lixia L; Yan, Junrong J; Shao, Yang Y; Stebbing, Justin J; Shen, Huahao H; Li, Wen W; Xia, Yang Y

Publication Date: 2021

Variant appearance in text: SMAD4: 1081C>T; R361C

PubMed Link: 34195081

Variant Present in the following documents:

• Table_2.xlsx, sheet 2

View BVdb publication page

---

Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: SMAD4: R361C

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 6
• Table_1.xlsx, sheet 8
• Table_1.xlsx, sheet 27
• Table_1.xlsx, sheet 21

View BVdb publication page

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Clinical Implication of Liquid Biopsy in Colorectal Cancer Patients Treated with Metastasectomy.

Cancers

Lee, Soohyeon S; Park, Young-Soo YS; Chang, Won-Jin WJ; Choi, Jung Yoon JY; Lim, Ahreum A; Kim, Boyeon B; Lee, Saet-Byeol SB; Lee, Jong-Won JW; Kim, Seon-Hahn SH; Kim, Jin J; Kwak, Jung-Myun JM; Yoon, Kyung-Chul KC; Lee, Sung-Ho SH; Kim, Yeul Hong YH

Publication Date: 2021-05-06

Variant appearance in text: SMAD4: R361C

PubMed Link: 34066481

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Sensitivity, specificity, and accuracy of a liquid biopsy approach utilizing molecular amplification pools.

Scientific Reports

Garcia, Jessica J; Kamps-Hughes, Nick N; Geiguer, Florence F; Couraud, Sébastien S; Sarver, Brice B; Payen, Léa L; Ionescu-Zanetti, Cristian C

Publication Date: 2021-05-24

Variant appearance in text: SMAD4: 1081C>T; R361C

PubMed Link: 34031447

Variant Present in the following documents:

• 41598_2021_89592_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

---

Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology

Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH

Publication Date: 2021-05-17

Variant appearance in text: SMAD4: R361C

PubMed Link: 34001194

Variant Present in the following documents:

• 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Consequences of Mutations and Abnormal Expression of SMAD4 in Tumors and T Cells.

Oncotargets And Therapy

Wan, Rongxue R; Feng, Jianguo J; Tang, Liling L

Publication Date: 2021

Variant appearance in text: SMAD4: R361C

PubMed Link: 33888990

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: SMAD4: R361C

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.

Oncotarget

Barakeh, Duna H DH; Aljelaify, Rasha R; Bashawri, Yara Y; Almutairi, Amal A; Alqubaishi, Fatimah F; Alnamnakani, Mohammed M; Almubarak, Latifa L; Al Naeem, Abdulrahman A; Almushawah, Fatema F; Alrashed, May M; Abedalthagafi, Malak M

Publication Date: 2021-03-30

Variant appearance in text: SMAD4: 1081C>T; R361C

PubMed Link: 33868589

Variant Present in the following documents:

• oncotarget-12-686-s002.xlsx, sheet 1

View BVdb publication page

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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: R361C

PubMed Link: 33862582

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Enhancing the landscape of colorectal cancer using targeted deep sequencing.

Scientific Reports

Lee, Chul Seung CS; Song, In Hye IH; Lee, Ahwon A; Kang, Jun J; Lee, Yoon Suk YS; Lee, In Kyu IK; Song, Young Soo YS; Lee, Sung Hak SH

Publication Date: 2021-04-14

Variant appearance in text: SMAD4: Arg361Cys

PubMed Link: 33854094

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Clinical Utility of Next-Generation Sequencing-Based Panel Testing under the Universal Health-Care System in Japan: A Retrospective Analysis at a Single University Hospital.

Cancers

Inagaki, Chiaki C; Maeda, Daichi D; Hatake, Kazue K; Sato, Yuki Y; Hashimoto, Kae K; Sakai, Daisuke D; Yachida, Shinichi S; Nonomura, Norio N; Satoh, Taroh T

Publication Date: 2021-03-05

Variant appearance in text: SMAD4: 1081C>T; R361C; rs80338963

PubMed Link: 33807840

Variant Present in the following documents:

• Main text
• cancers-13-01121.pdf

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: 1081C>T; R361C

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

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: SMAD4: 1081C>T; R361C

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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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: R361C

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

View BVdb publication page

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Colorectal Cancer-Associated Smad4 R361 Hotspot Mutations Boost Wnt/β-Catenin Signaling through Enhanced Smad4-LEF1 Binding.

Molecular Cancer Research : Mcr

Lanauze, Claudia B CB; Sehgal, Priyanka P; Hayer, Katharina K; Torres-Diz, Manuel M; Pippin, James A JA; Grant, Struan F A SFA; Thomas-Tikhonenko, Andrei A

Publication Date: 2021-05

Variant appearance in text: SMAD4: R361C

PubMed Link: 33608451

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dual inhibition of TGFβ and AXL as a novel therapy for human colorectal adenocarcinoma with mesenchymal phenotype.

Medical Oncology (Northwood, London, England)

Ciardiello, Davide D; Blauensteiner, Bernadette B; Matrone, Nunzia N; Belli, Valentina V; Mohr, Thomas T; Vitiello, Pietro Paolo PP; Martini, Giulia G; Poliero, Luca L; Cardone, Claudia C; Napolitano, Stefania S; De Falco, Vincenzo V; Giunta, Emilio Francesco EF; Ciaramella, Vincenza V; Corte, Carminia Della CD; Barra, Giusi G; Selvaggi, Francesco F; Franco, Renato R; Marino, Federica Zito FZ; Cuomo, Antonio A; Morgillo, Floriana F; Troiani, Teresa T; Sibilia, Maria M; Ciardiello, Fortunato F; Martinelli, Erika E

Publication Date: 2021-02-11

Variant appearance in text: SMAD4: R361C

PubMed Link: 33570712

Variant Present in the following documents:

• Main text
• 12032_2021_Article_1464.pdf

View BVdb publication page

---

Role of next generation sequencing-based liquid biopsy in advanced non-small cell lung cancer patients treated with immune checkpoint inhibitors: impact of STK11, KRAS and TP53 mutations and co-mutations on outcome.

Translational Lung Cancer Research

Pavan, Alberto A; Bragadin, Andrea Boscolo AB; Calvetti, Lorenzo L; Ferro, Alessandra A; Zulato, Elisabetta E; Attili, Ilaria I; Nardo, Giorgia G; Dal Maso, Alessandro A; Frega, Stefano S; Menin, Andrea Giovanni AG; Fassan, Matteo M; Calabrese, Fiorella F; Pasello, Giulia G; Guarneri, Valentina V; Aprile, Giuseppe G; Conte, PierFranco P; Rosell, Rafael R; Indraccolo, Stefano S; Bonanno, Laura L

Publication Date: 2021-01

Variant appearance in text: SMAD4: R361C

PubMed Link: 33569305

Variant Present in the following documents:

• tlcr-10-01-202-supplementary.pdf

View BVdb publication page

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Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Signal Transduction And Targeted Therapy

Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y

Publication Date: 2021-02-10

Variant appearance in text: SMAD4: Arg361Cys

PubMed Link: 33563892

Variant Present in the following documents:

• 41392_2020_412_MOESM7_ESM.xlsx, sheet 1
• 41392_2020_412_MOESM4_ESM.xlsx, sheet 1
• 41392_2020_412_MOESM17_ESM.xlsx, sheet 1

View BVdb publication page

---

Circulating tumor DNA dynamics in advanced breast cancer treated with CDK4/6 inhibition and endocrine therapy.

Npj Breast Cancer

Martínez-Sáez, Olga O; Pascual, Tomás T; Brasó-Maristany, Fara F; Chic, Nuria N; González-Farré, Blanca B; Sanfeliu, Esther E; Rodríguez, Adela A; Martínez, Débora D; Galván, Patricia P; Rodríguez, Anna Belén AB; Schettini, Francesco F; Conte, Benedetta B; Vidal, Maria M; Adamo, Barbara B; Martínez, Antoni A; Muñoz, Montserrat M; Moreno, Reinaldo R; Villagrasa, Patricia P; Salvador, Fernando F; Ciruelos, Eva M EM; Faull, Iris I; Odegaard, Justin I JI; Prat, Aleix A

Publication Date: 2021-02-03

Variant appearance in text: SMAD4: 1081C>T; R361C; rs80338963

PubMed Link: 33536433

Variant Present in the following documents:

• 41523_2021_218_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Control of replication stress and mitosis in colorectal cancer stem cells through the interplay of PARP1, MRE11 and RAD51.

Cell Death And Differentiation

Manic, Gwenola G; Musella, Martina M; Corradi, Francesca F; Sistigu, Antonella A; Vitale, Sara S; Soliman Abdel Rehim, Sara S; Mattiello, Luca L; Malacaria, Eva E; Galassi, Claudia C; Signore, Michele M; Pallocca, Matteo M; Scalera, Stefano S; Goeman, Frauke F; De Nicola, Francesca F; Guarracino, Andrea A; Pennisi, Rosa R; Antonangeli, Fabrizio F; Sperati, Francesca F; Baiocchi, Marta M; Biffoni, Mauro M; Fanciulli, Maurizio M; Maugeri-Saccà, Marcello M; Franchitto, Annapaola A; Pichierri, Pietro P; De Maria, Ruggero R; Vitale, Ilio I

Publication Date: 2021-07

Variant appearance in text: SMAD4: 955+5632C>T; R361C; rs80338963

PubMed Link: 33531658

Variant Present in the following documents:

• 41418_2020_733_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.

Scientific Reports

Zhang, Yingli Y; Shi, Xiaoliang X; Zhang, Jiejie J; Chen, Xi X; Zhang, Peng P; Liu, Angen A; Zhu, Tao T

Publication Date: 2021-01-11

Variant appearance in text: SMAD4: 1081C>T; R361C

PubMed Link: 33432021

Variant Present in the following documents:

• 41598_2020_79694_MOESM2_ESM.xlsx, sheet 1

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: 1081C>T; R361C

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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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: R361C

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s003.xlsx, sheet 1

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The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology

Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S

Publication Date: 2020

Variant appearance in text: SMAD4: R361C

PubMed Link: 33133066

Variant Present in the following documents:

• Table_6.xlsx, sheet 2
• Table_1.xlsx, sheet 2

View BVdb publication page

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