Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: APC: 4285C>T; Gln1429Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: APC: Q1429*; rs74535574

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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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: APC: Q1429*

PubMed Link: 36202073

Variant Present in the following documents:

• pat-0090-0166-s01.pdf

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: APC: 4285C>T; Q1429*

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: APC: Q1429X

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Somatic targeted mutation profiling of colorectal cancer precursor lesions.

Bmc Medical Genomics

Dos Santos, Wellington W; Dos Reis, Mariana Bisarro MB; Porto, Jun J; de Carvalho, Ana Carolina AC; Matsushita, Marcus M; Oliveira, Gabriela G; Syrjänen, Kari K; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP

Publication Date: 2022-06-28

Variant appearance in text: APC: Gln1429Ter; rs74535574

PubMed Link: 35761395

Variant Present in the following documents:

• 12920_2022_1294_MOESM5_ESM.xlsx, sheet 1
• 12920_2022_1294_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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A comprehensive analysis of the microbiota composition and host driver gene mutations in colorectal cancer.

Investigational New Drugs

Yuan, Danping D; Tao, Yong Y; Wang, Haoyi H; Wang, Jiawei J; Cao, Yuepeng Y; Cao, Wen W; Pan, Shou S; Yu, Zhaonan Z

Publication Date: 2022-10

Variant appearance in text: APC: Q1429*

PubMed Link: 35727391

Variant Present in the following documents:

• Main text
• 10637_2022_Article_1263.pdf

View BVdb publication page

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Genomic landscape of pathogenic mutation of APC, KRAS, TP53, PIK3CA, and MLH1 in Indonesian colorectal cancer.

Plos One

Marbun, Vania Myralda Giamour VMG; Erlina, Linda L; Lalisang, Toar Jean Maurice TJM

Publication Date: 2022

Variant appearance in text: APC: Q1429*

PubMed Link: 35709138

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal

Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H

Publication Date: 2022-04

Variant appearance in text: APC: Q1429X

PubMed Link: 35550340

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Response prediction and risk stratification of patients with rectal cancer after neoadjuvant therapy through an analysis of circulating tumour DNA.

Ebiomedicine

Liu, Wenyang W; Li, Yifei Y; Tang, Yuan Y; Song, Qianqian Q; Wang, Jingjing J; Li, Ning N; Chen, Silin S; Shi, Jinming J; Wang, Shulian S; Li, Yexiong Y; Jiao, Yuchen Y; Zeng, Yixin Y; Jin, Jing J

Publication Date: 2022-04

Variant appearance in text: APC: 4285C>T; Gln1429Ter

PubMed Link: 35306340

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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: APC: Q1429*

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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Prevalence and spectrum of germline cancer susceptibility gene variants and somatic second hits in colorectal cancer.

American Journal Of Cancer Research

Liao, Haiyan H; Cai, Songhua S; Bai, Yuezong Y; Zhang, Bei B; Sheng, Yuling Y; Tong, Shuang S; Cai, Jinping J; Zhao, Feilong F; Zhao, Xiaochen X; Chen, Shiqing S; Zhang, Cheng C; Gao, Jing J

Publication Date: 2021

Variant appearance in text: APC: 4285C>T

PubMed Link: 34873480

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cold and heterogeneous T cell repertoire is associated with copy number aberrations and loss of immune genes in small-cell lung cancer.

Nature Communications

Chen, Ming M; Chen, Runzhe R; Jin, Ying Y; Li, Jun J; Hu, Xin X; Zhang, Jiexin J; Fujimoto, Junya J; Hubert, Shawna M SM; Gay, Carl M CM; Zhu, Bo B; Tian, Yanhua Y; McGranahan, Nicholas N; Lee, Won-Chul WC; George, Julie J; Hu, Xiao X; Chen, Yamei Y; Wu, Meijuan M; Behrens, Carmen C; Chow, Chi-Wan CW; Pham, Hoa H N HHN; Fukuoka, Junya J; Wu, Jia J; Parra, Edwin Roger ER; Little, Latasha D LD; Gumbs, Curtis C; Song, Xingzhi X; Wu, Chang-Jiun CJ; Diao, Lixia L; Wang, Qi Q; Cardnell, Robert R; Zhang, Jianhua J; Wang, Jing J; Le, Xiuning X; Gibbons, Don L DL; Heymach, John V JV; Jack Lee, J J; William, William N WN; Cheng, Chao C; Glisson, Bonnie B; Wistuba, Ignacio I; Andrew Futreal, P P; Thomas, Roman K RK; Reuben, Alexandre A; Byers, Lauren A LA; Zhang, Jianjun J

Publication Date: 2021-11-17

Variant appearance in text: APC: Q1429X; rs74535574

PubMed Link: 34789716

Variant Present in the following documents:

• 41467_2021_26821_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Germline mutations in a DNA repair pathway are associated with familial colorectal cancer.

Jci Insight

Xu, Pingping P; Sun, Danfeng D; Gao, Yaqi Y; Jiang, Yi Y; Zhong, Ming M; Zhao, Gang G; Chen, Jinxian J; Wang, Zheng Z; Liu, Qiang Q; Hong, Jie J; Chen, Haoyan H; Chen, Ying-Xuan YX; Fang, Jing-Yuan JY

Publication Date: 2021-09-22

Variant appearance in text: APC: Q1429X

PubMed Link: 34549727

Variant Present in the following documents:

• jciinsight-6-148931.pdf
• jciinsight-6-148931-s278.pdf

View BVdb publication page

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Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.

Scientific Reports

Lim, Yoojoo Y; Kim, Sheehyun S; Kang, Jun-Kyu JK; Kim, Hwang-Phill HP; Jang, Hoon H; Han, Hyojun H; Kim, Hyoki H; Kim, Min Jung MJ; Lee, Kyung-Hun KH; Ryoo, Seung-Bum SB; Park, Ji Won JW; Jeong, Seung-Yong SY; Park, Kyu Joo KJ; Kang, Gyeong Hoon GH; Han, Sae-Won SW; Kim, Tae-You TY

Publication Date: 2021-08-11

Variant appearance in text: APC: 4285C>T; Gln1429*; rs74535574

PubMed Link: 34381078

Variant Present in the following documents:

• 41598_2021_95345_MOESM5_ESM.xlsx, sheet 1
• 41598_2021_95345_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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PD-L1 targeting and subclonal immune escape mediated by PD-L1 mutations in metastatic colorectal cancer.

Journal For Immunotherapy Of Cancer

Stein, Alexander A; Simnica, Donjete D; Schultheiß, Christoph C; Scholz, Rebekka R; Tintelnot, Joseph J; Gökkurt, Eray E; von Wenserski, Lisa L; Willscher, Edith E; Paschold, Lisa L; Sauer, Markus M; Lorenzen, Sylvie S; Riera-Knorrenschild, Jorge J; Depenbusch, Reinhard R; Ettrich, Thomas J TJ; Dörfel, Steffen S; Al-Batran, Salah-Eddin SE; Karthaus, Meinolf M; Pelzer, Uwe U; Waberer, Lisa L; Hinke, Axel A; Bauer, Marcus M; Massa, Chiara C; Seliger, Barbara B; Wickenhauser, Claudia C; Bokemeyer, Carsten C; Hegewisch-Becker, Susanna S; Binder, Mascha M

Publication Date: 2021-07

Variant appearance in text: APC: 4285C>T; Q1429*; rs74535574

PubMed Link: 34315821

Variant Present in the following documents:

• jitc-2021-002844supp002.xlsx, sheet 1

View BVdb publication page

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Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Npj Precision Oncology

Finkle, Justin D JD; Boulos, Hala H; Driessen, Terri M TM; Lo, Christine C; Blidner, Richard A RA; Hafez, Ashraf A; Khan, Aly A AA; Lozac'hmeur, Ariane A; McKinnon, Kelly E KE; Perera, Jason J; Zhu, Wei W; Dowlati, Afshin A; White, Kevin P KP; Tell, Robert R; Beaubier, Nike N

Publication Date: 2021-07-02

Variant appearance in text: APC: Gln1429*

PubMed Link: 34215841

Variant Present in the following documents:

• 41698_2021_202_MOESM1_ESM.pdf

View BVdb publication page

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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: APC: Q1429*

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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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: APC: 4285C>T; Q1429*

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: APC: 4285C>T; Q1429*

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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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: APC: 4285C>T; Q1429*

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

View BVdb publication page

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Post-radiation circulating tumor DNA as a prognostic factor in locally advanced esophageal squamous cell carcinoma.

Oncology Letters

Jia, Ru R; Zhao, Chuan-Hua CH; Li, Pan-Song PS; Liu, Rong-Rui RR; Zhang, Yun Y; Chen, Hai-E HE; Chang, Lian-Peng LP; Gong, Yu-Hua YH; Guan, Yan-Fang YF; Yi, Xin X; Xu, Jian-Ming JM

Publication Date: 2021-01

Variant appearance in text: APC: 4285C>T; Q1429*

PubMed Link: 33365079

Variant Present in the following documents:

• Main text
• Supplementary_Data3.xlsx, sheet 1
• ol-21-01-12329.pdf

View BVdb publication page

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Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: APC: Q1429*

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

View BVdb publication page

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Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Peerj

Prieto-Potin, Iván I; Carvajal, Nerea N; Plaza-Sánchez, Jenifer J; Manso, Rebeca R; Aúz-Alexandre, Carmen Laura CL; Chamizo, Cristina C; Zazo, Sandra S; López-Sánchez, Almudena A; Rodríguez-Pinilla, Socorro María SM; Camacho, Laura L; Longarón, Raquel R; Bellosillo, Beatriz B; Somoza, Rosa R; Hernández-Losa, Javier J; Fernández-Soria, Víctor Manuel VM; Ramos-Ruiz, Ricardo R; Cristóbal, Ion I; García-Foncillas, Jesús J; Rojo, Federico F

Publication Date: 2020

Variant appearance in text: APC: 4285C>T; Gln1429Ter; rs74535574

PubMed Link: 33083132

Variant Present in the following documents:

• peerj-08-10069-s009.xlsx, sheet 1
• peerj-08-10069-s013.xlsx, sheet 1
• peerj-08-10069-s012.xlsx, sheet 1
• peerj-08-10069-s010.xlsx, sheet 1

View BVdb publication page

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Malignant transformation and genetic alterations are uncoupled in early colorectal cancer progression.

Bmc Biology

Mamlouk, Soulafa S; Simon, Tincy T; Tomás, Laura L; Wedge, David C DC; Arnold, Alexander A; Menne, Andrea A; Horst, David D; Capper, David D; Morkel, Markus M; Posada, David D; Sers, Christine C; Bläker, Hendrik H

Publication Date: 2020-09-07

Variant appearance in text: APC: 4285C>T; Q1429*

PubMed Link: 32895052

Variant Present in the following documents:

• 12915_2020_844_MOESM3_ESM.xlsx, sheet 1
• 12915_2020_844_MOESM1_ESM.pdf

View BVdb publication page

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Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.

Cancer Research And Treatment

Lee, Youngwoo Y; Lee, Soohyeon S; Sung, Jae Sook JS; Chung, Hee-Joon HJ; Lim, Ah-Reum AR; Kim, Ju Won JW; Choi, Yoon Ji YJ; Park, Kyong Hwa KH; Kim, Yeul Hong YH

Publication Date: 2021-01

Variant appearance in text: APC: Q1429*

PubMed Link: 32810930

Variant Present in the following documents:

• crt-2020-559-suppl3.pdf

View BVdb publication page

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Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.

Cancer Science

Hayashi, Hideyuki H; Tanishima, Shigeki S; Fujii, Kyoko K; Mori, Ryo R; Okada, Chihiro C; Yanagita, Emmy E; Shibata, Yuka Y; Matsuoka, Ryosuke R; Amano, Toraji T; Yamada, Takahiro T; Yabe, Ichiro I; Kinoshita, Ichiro I; Komatsu, Yoshito Y; Dosaka-Akita, Hirotoshi H; Nishihara, Hiroshi H

Publication Date: 2020-10

Variant appearance in text: APC: Q1429*

PubMed Link: 32772458

Variant Present in the following documents:

• CAS-111-3926-s001.xlsx, sheet 5
• CAS-111-3926-s001.xlsx, sheet 4

View BVdb publication page

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A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Breast Cancer Research : Bcr

Kang, Taekyu T; Yau, Christina C; Wong, Christopher K CK; Sanborn, John Z JZ; Newton, Yulia Y; Vaske, Charlie C; Benz, Stephen C SC; Krings, Gregor G; Camarda, Roman R; Henry, Jill E JE; Stuart, Josh J; Powell, Mark M; Benz, Christopher C CC

Publication Date: 2020-07-31

Variant appearance in text: APC: 4285C>T; Q1429*

PubMed Link: 32736587

Variant Present in the following documents:

• 13058_2020_1322_MOESM3_ESM.xlsx, sheet 1
• 13058_2020_1322_MOESM3_ESM.xlsx, sheet 2
• 13058_2020_1322_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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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: APC: Q1429*

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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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: APC: Q1429X

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: APC: Q1429*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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A pan-cancer blueprint of the heterogeneous tumor microenvironment revealed by single-cell profiling.

Cell Research

Qian, Junbin J; Olbrecht, Siel S; Boeckx, Bram B; Vos, Hanne H; Laoui, Damya D; Etlioglu, Emre E; Wauters, Els E; Pomella, Valentina V; Verbandt, Sara S; Busschaert, Pieter P; Bassez, Ayse A; Franken, Amelie A; Bempt, Marlies Vanden MV; Xiong, Jieyi J; Weynand, Birgit B; van Herck, Yannick Y; Antoranz, Asier A; Bosisio, Francesca Maria FM; Thienpont, Bernard B; Floris, Giuseppe G; Vergote, Ignace I; Smeets, Ann A; Tejpar, Sabine S; Lambrechts, Diether D

Publication Date: 2020-09

Variant appearance in text: APC: Q1429*

PubMed Link: 32561858

Variant Present in the following documents:

• 41422_2020_355_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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TRF2 and VEGF-A: an unknown relationship with prognostic impact on survival of colorectal cancer patients.

Journal Of Experimental & Clinical Cancer Research : Cr

Dinami, Roberto R; Porru, Manuela M; Amoreo, Carla Azzurra CA; Sperduti, Isabella I; Mottolese, Marcella M; Buglioni, Simonetta S; Marinelli, Daniele D; Maugeri-Saccà, Marcello M; Sacconi, Andrea A; Blandino, Giovanni G; Leonetti, Carlo C; Di Rocco, Giuliana G; Verdina, Alessandra A; Spinella, Francesca F; Fiorentino, Francesco F; Ciliberto, Gennaro G; Biroccio, Annamaria A; Zizza, Pasquale P

Publication Date: 2020-06-15

Variant appearance in text: APC: Q1429*

PubMed Link: 32539869

Variant Present in the following documents:

• 13046_2020_1612_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The relationships between systemic cytokine profiles and inflammatory markers in colorectal cancer and the prognostic significance of these parameters.

British Journal Of Cancer

Park, Ji Won JW; Chang, Hee Jin HJ; Yeo, Hyun Yang HY; Han, Nayoung N; Kim, Byung Chang BC; Kong, Sun-Young SY; Kim, Jeongseon J; Oh, Jae Hwan JH

Publication Date: 2020-08

Variant appearance in text: APC: Q1429*

PubMed Link: 32488137

Variant Present in the following documents:

• 41416_2020_924_MOESM1_ESM.pdf

View BVdb publication page

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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: APC: Q1429*

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

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: APC: 4285C>T; Q1429*; rs74535574

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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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: APC: 4285C>T; Q1429*

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer.

Plos Genetics

Fang, Hu H; Barbour, Jayne A JA; Poulos, Rebecca C RC; Katainen, Riku R; Aaltonen, Lauri A LA; Wong, Jason W H JWH

Publication Date: 2020-02

Variant appearance in text: APC: Q1429*

PubMed Link: 32012149

Variant Present in the following documents:

• pgen.1008572.s012.xlsx, sheet 1

View BVdb publication page

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Direct targeting of oncogenic RAS mutants with a tumor-specific cytosol-penetrating antibody inhibits RAS mutant-driven tumor growth.

Science Advances

Shin, Seung-Min SM; Kim, Ji-Sun JS; Park, Seong-Wook SW; Jun, Sei-Yong SY; Kweon, Hye-Jin HJ; Choi, Dong-Ki DK; Lee, Dakeun D; Cho, Yong Beom YB; Kim, Yong-Sung YS

Publication Date: 2020-01

Variant appearance in text: APC: Q1429*

PubMed Link: 31998840

Variant Present in the following documents:

• aay2174_SM.pdf

View BVdb publication page

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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: APC: 4285C>T; Q1429*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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Inter-laboratory proficiency testing scheme for tumour next-generation sequencing in Ontario: a pilot study.

Current Oncology (Toronto, Ont.)

Spence, T T; Stickle, N N; Yu, C C; Chow, H H; Feilotter, H H; Lo, B B; McCready, E E; Sadikovic, B B; Siu, L L LL; Bedard, P L PL; Stockley, T L TL

Publication Date: 2019-12

Variant appearance in text: APC: 4285C>T; Q1429X

PubMed Link: 31896942

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: APC: Q1429*

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports

McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,

Publication Date: 2019-11-19

Variant appearance in text: APC: 4285C>T; Q1429*

PubMed Link: 31745186

Variant Present in the following documents:

• 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Frontiers In Molecular Biosciences

Dehghani, Mehdi M; Rosenblatt, Kevin P KP; Li, Lei L; Rakhade, Mrudula M; Amato, Robert J RJ

Publication Date: 2019

Variant appearance in text: APC: Gln1429Ter

PubMed Link: 31681791

Variant Present in the following documents:

• Data_Sheet_5.pdf

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: APC: Gln1429*

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.

Gut

Kleeman, Sam O SO; Koelzer, Viktor H VH; Jones, Helen Js HJ; Vazquez, Ester Gil EG; Davis, Hayley H; East, James E JE; Arnold, Roland R; Koppens, Martijn Aj MA; Blake, Andrew A; Domingo, Enric E; Cunningham, Chris C; Beggs, Andrew D AD; Pestinger, Valerie V; Loughrey, Maurice B MB; Wang, Lai-Mun LM; Lannagan, Tamsin Rm TR; Woods, Susan L SL; Worthley, Daniel D; Consortium, S Cort SC; Tomlinson, Ian I; Dunne, Philip D PD; Maughan, Timothy T; Leedham, Simon J SJ

Publication Date: 2020-06

Variant appearance in text: APC: 4285C>T; Q1429*

PubMed Link: 31563876

Variant Present in the following documents:

• gutjnl-2019-319126supp003.xlsx, sheet 3

View BVdb publication page

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Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Scientific Reports

Dos Santos, Wellington W; Sobanski, Thais T; de Carvalho, Ana Carolina AC; Evangelista, Adriane Feijó AF; Matsushita, Marcus M; Berardinelli, Gustavo Nóriz GN; de Oliveira, Marco Antonio MA; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP

Publication Date: 2019-09-23

Variant appearance in text: APC: Gln1429Ter; rs74535574

PubMed Link: 31548566

Variant Present in the following documents:

• 41598_2019_49611_MOESM1_ESM.pdf

View BVdb publication page

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Analytical Evaluation of an NGS Testing Method for Routine Molecular Diagnostics on Melanoma Formalin-Fixed, Paraffin-Embedded Tumor-Derived DNA.

Diagnostics (Basel, Switzerland)

Mancini, Irene I; Simi, Lisa L; Salvianti, Francesca F; Castiglione, Francesca F; Sonnati, Gemma G; Pinzani, Pamela P

Publication Date: 2019-09-12

Variant appearance in text: APC: Gln1429Ter

PubMed Link: 31547467

Variant Present in the following documents:

• Main text

View BVdb publication page

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Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen.

Nature Communications

Menden, Michael P MP; Wang, Dennis D; Mason, Mike J MJ; Szalai, Bence B; Bulusu, Krishna C KC; Guan, Yuanfang Y; Yu, Thomas T; Kang, Jaewoo J; Jeon, Minji M; Wolfinger, Russ R; Nguyen, Tin T; Zaslavskiy, Mikhail M; , ; Jang, In Sock IS; Ghazoui, Zara Z; Ahsen, Mehmet Eren ME; Vogel, Robert R; Neto, Elias Chaibub EC; Norman, Thea T; Tang, Eric K Y EKY; Garnett, Mathew J MJ; Veroli, Giovanni Y Di GYD; Fawell, Stephen S; Stolovitzky, Gustavo G; Guinney, Justin J; Dry, Jonathan R JR; Saez-Rodriguez, Julio J

Publication Date: 2019-06-17

Variant appearance in text: APC: Q1429*

PubMed Link: 31209238

Variant Present in the following documents:

• 41467_2019_9799_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Heterogeneous pathway activation and drug response modelled in colorectal-tumor-derived 3D cultures.

Plos Genetics

Schumacher, Dirk D; Andrieux, Geoffroy G; Boehnke, Karsten K; Keil, Marlen M; Silvestri, Alessandra A; Silvestrov, Maxine M; Keilholz, Ulrich U; Haybaeck, Johannes J; Erdmann, Gerrit G; Sachse, Christoph C; Templin, Markus M; Hoffmann, Jens J; Boerries, Melanie M; Schäfer, Reinhold R; Regenbrecht, Christian R A CRA

Publication Date: 2019-03

Variant appearance in text: APC: Q1429X

PubMed Link: 30925167

Variant Present in the following documents:

• pgen.1008076.s007.xlsx, sheet 1
• pgen.1008076.s018.xlsx, sheet 1

View BVdb publication page

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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: APC: Q1429*

PubMed Link: 30867008

Variant Present in the following documents:

• 13059_2019_1659_MOESM1_ESM.xlsx, sheet 7

View BVdb publication page

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Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: A hospital-based study.

Cancer Science

Sunami, Kuniko K; Ichikawa, Hitoshi H; Kubo, Takashi T; Kato, Mamoru M; Fujiwara, Yutaka Y; Shimomura, Akihiko A; Koyama, Takafumi T; Kakishima, Hiroki H; Kitami, Mayuko M; Matsushita, Hiromichi H; Furukawa, Eisaku E; Narushima, Daichi D; Nagai, Momoko M; Taniguchi, Hirokazu H; Motoi, Noriko N; Sekine, Shigeki S; Maeshima, Akiko A; Mori, Taisuke T; Watanabe, Reiko R; Yoshida, Masayuki M; Yoshida, Akihiko A; Yoshida, Hiroshi H; Satomi, Kaishi K; Sukeda, Aoi A; Hashimoto, Taiki T; Shimizu, Toshio T; Iwasa, Satoru S; Yonemori, Kan K; Kato, Ken K; Morizane, Chigusa C; Ogawa, Chitose C; Tanabe, Noriko N; Sugano, Kokichi K; Hiraoka, Nobuyoshi N; Tamura, Kenji K; Yoshida, Teruhiko T; Fujiwara, Yasuhiro Y; Ochiai, Atsushi A; Yamamoto, Noboru N; Kohno, Takashi T

Publication Date: 2019-04

Variant appearance in text: APC: Q1429*

PubMed Link: 30742731

Variant Present in the following documents:

• CAS-110-1480-s003.xlsx, sheet 3

View BVdb publication page

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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: APC: 4285C>T; Gln1429*

PubMed Link: 30730996

Variant Present in the following documents:

• pone.0212142.s001.xlsx, sheet 1

View BVdb publication page

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An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports

Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U

Publication Date: 2018-09-10

Variant appearance in text: APC: Q1429*

PubMed Link: 30202034

Variant Present in the following documents:

• 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30

View BVdb publication page

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Contribution of allelic imbalance to colorectal cancer.

Nature Communications

Palin, Kimmo K; Pitkänen, Esa E; Turunen, Mikko M; Sahu, Biswajyoti B; Pihlajamaa, Päivi P; Kivioja, Teemu T; Kaasinen, Eevi E; Välimäki, Niko N; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Aavikko, Mervi M; Tuupanen, Sari S; Kilpivaara, Outi O; van den Berg, Linda L; Kondelin, Johanna J; Tanskanen, Tomas T; Katainen, Riku R; Grau, Marta M; Rauanheimo, Heli H; Plaketti, Roosa-Maria RM; Taira, Aurora A; Sulo, Päivi P; Hartonen, Tuomo T; Dave, Kashyap K; Schmierer, Bernhard B; Botla, Sandeep S; Sokolova, Maria M; Vähärautio, Anna A; Gladysz, Kornelia K; Ongen, Halit H; Dermitzakis, Emmanouil E; Bramsen, Jesper Bertram JB; Ørntoft, Torben Falck TF; Andersen, Claus Lindbjerg CL; Ristimäki, Ari A; Lepistö, Anna A; Renkonen-Sinisalo, Laura L; Mecklin, Jukka-Pekka JP; Taipale, Jussi J; Aaltonen, Lauri A LA

Publication Date: 2018-09-10

Variant appearance in text: APC: Q1429X

PubMed Link: 30202008

Variant Present in the following documents:

• 41467_2018_6132_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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Circulating tumor DNA in patients with colorectal adenomas: assessment of detectability and genetic heterogeneity.

Cell Death & Disease

Myint, Ni Ni Moe NNM; Verma, Ajay M AM; Fernandez-Garcia, Daniel D; Sarmah, Panchali P; Tarpey, Patrick S PS; Al-Aqbi, Saif Sattar SS; Cai, Hong H; Trigg, Ricky R; West, Kevin K; Howells, Lynne M LM; Thomas, Anne A; Brown, Karen K; Guttery, David S DS; Singh, Baljit B; Pringle, Howard J HJ; McDermott, Ultan U; Shaw, Jacqui A JA; Rufini, Alessandro A

Publication Date: 2018-08-30

Variant appearance in text: APC: 4285C>T; Q1429*

PubMed Link: 30166531

Variant Present in the following documents:

• Main text
• 41419_2018_Article_934.pdf

View BVdb publication page

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Validation of the Oncomine™ focus panel for next-generation sequencing of clinical tumour samples.

Virchows Archiv : An International Journal Of Pathology

Williams, Hannah L HL; Walsh, Kathy K; Diamond, Austin A; Oniscu, Anca A; Deans, Zandra C ZC

Publication Date: 2018-10

Variant appearance in text: APC: 4285C>T; Q1429*

PubMed Link: 30105577

Variant Present in the following documents:

• 428_2018_2411_MOESM2_ESM.xlsx, sheet 1
• 428_2018_2411_MOESM3_ESM.xlsx, sheet 1
• 428_2018_2411_MOESM1_ESM.xlsx, sheet 4
• 428_2018_2411_MOESM1_ESM.xlsx, sheet 3
• 428_2018_2411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: APC: 4285C>T; Gln1429*; rs74535574

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s8.xls, sheet 1

View BVdb publication page

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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: APC: 4285C>T; Q1429*; rs74535574

PubMed Link: 29937994

Variant Present in the following documents:

• oncotarget-09-27412-s004.xlsx, sheet 1

View BVdb publication page

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Evaluating Circulating Tumor DNA From the Cerebrospinal Fluid of Patients With Melanoma and Leptomeningeal Disease.

Journal Of Neuropathology And Experimental Neurology

Ballester, Leomar Y LY; Glitza Oliva, Isabella C IC; Douse, Dzifa Y DY; Chen, Melissa M MM; Lan, Chieh C; Haydu, Lauren E LE; Huse, Jason T JT; Roy-Chowdhuri, Sinchita S; Luthra, Rajyalakshmi R; Wistuba, Ignacio I II; Davies, Michael A MA

Publication Date: 2018-07-01

Variant appearance in text: APC: 4285C>T

PubMed Link: 29873738

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hotspot KRAS exon 2 mutations in CD166 positive colorectal cancer and colorectal adenoma cells.

Oncotarget

Wong, Hung Lai HL; Ng, Lawrence Po Wah LPW; Koh, Su Pin SP; Chan, Lawrence Wing Chi LWC; Wong, Evelyn Yin Kwan EYK; Xue, Vivian Weiwen VW; Tsang, Hin Fung Andy HFA; Chan, Amanda Kit Ching AKC; Chiu, Ka Yue KY; Cheuk, Wah W; Wong, Sze Chuen Cesar SCC

Publication Date: 2018-04-17

Variant appearance in text: APC: 4285C>T; Q1429*

PubMed Link: 29755662

Variant Present in the following documents:

View BVdb publication page

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Circulating tumor DNA in early response assessment and monitoring of advanced colorectal cancer treated with a multi-kinase inhibitor.

Oncotarget

Vandeputte, Caroline C; Kehagias, Pashalina P; El Housni, Hakim H; Ameye, Lieveke L; Laes, Jean-François JF; Desmedt, Christine C; Sotiriou, Christos C; Deleporte, Amélie A; Puleo, Francesco F; Geboes, Karen K; Delaunoit, Thierry T; Demolin, Gauthier G; Peeters, Marc M; D'Hondt, Lionel L; Janssens, Jos J; Carrasco, Javier J; Marechal, Raphaël R; Galdon, Maria Gomez MG; Heimann, Pierre P; Paesmans, Marianne M; Flamen, Patrick P; Hendlisz, Alain A

Publication Date: 2018-04-03

Variant appearance in text: APC: 4285C>T

PubMed Link: 29707145

Variant Present in the following documents:

• Main text

View BVdb publication page

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SMAD4 and NF1 mutations as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese metastatic colorectal cancer patients.

Bmc Cancer

Mei, Zhu Z; Shao, Yang W YW; Lin, Peinan P; Cai, Xiaomin X; Wang, Biao B; Ding, Yan Y; Ma, Xiangyuan X; Wu, Xue X; Xia, Yewei Y; Zhu, Dongqin D; Shu, Yongqian Y; Fu, Zan Z; Gu, Yanhong Y

Publication Date: 2018-04-27

Variant appearance in text: APC: Q1429X

PubMed Link: 29703253

Variant Present in the following documents:

• 12885_2018_4298_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: APC: Q1429*

PubMed Link: 29641532

Variant Present in the following documents:

• Main text

View BVdb publication page

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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: APC: 4285C>T; Q1429*

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s022.xlsx, sheet 1

View BVdb publication page

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Targeted next generation sequencing in Chinese colorectal cancer patients guided anti-EGFR treatment and facilitated precision cancer medicine.

Oncotarget

Hou, Helei H; Liu, Dong D; Zhang, Chuantao C; Jiang, Yanxia Y; Lu, Guifang G; Zhou, Na N; Yang, Xiaonan X; Zhang, Xiaoping X; Li, Zhuokun Z; Zhu, Hongmei H; Qian, Zhaoyang Z; Zhang, Xiaochun X

Publication Date: 2017-12-01

Variant appearance in text: APC: Q1429*

PubMed Link: 29285234

Variant Present in the following documents:

• oncotarget-08-105072-s002.xlsx, sheet 1

View BVdb publication page

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Proximal Aberrant Crypt Foci Associate with Synchronous Neoplasia and Are Primed for Neoplastic Progression.

Molecular Cancer Research : Mcr

Drew, David A DA; Mo, Allen A; Grady, James J JJ; Stevens, Richard G RG; Levine, Joel B JB; Brenner, Bruce M BM; Anderson, Joseph C JC; Forouhar, Faripour F; O'Brien, Michael J MJ; Devers, Thomas J TJ; Rosenberg, Daniel W DW

Publication Date: 2018-03

Variant appearance in text: APC: Q1429*

PubMed Link: 29222172

Variant Present in the following documents:

• Main text

View BVdb publication page

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Acquired somatic TP53 or PIK3CA mutations are potential predictors of when polyps evolve into colorectal cancer.

Oncotarget

Chang, Pi-Yueh PY; Chen, Jinn-Shiun JS; Chang, Shih-Cheng SC; Wang, Mei-Chia MC; Chang, Nai-Chung NC; Wen, Ying-Hao YH; Tsai, Wen-Sy WS; Liu, Wei-Hsiu WH; Liu, Hsiu-Ling HL; Lu, Jang-Jih JJ

Publication Date: 2017-09-22

Variant appearance in text: APC: Q1429*

PubMed Link: 29069792

Variant Present in the following documents:

• Main text

View BVdb publication page

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