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: 2656C>T; Gln886Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Precision medicine-based therapies in advanced colorectal cancer: The University of California San Diego Molecular Tumor Board experience.

Molecular Oncology

Louie, Bryan H BH; Kato, Shumei S; Kim, Ki Hwan KH; Lim, Hyo Jeong HJ; Lee, Suzanna S; Okamura, Ryosuke R; Fanta, Paul T PT; Kurzrock, Razelle R

Publication Date: 2022-07

Variant appearance in text: APC: Q886*

PubMed Link: 35238467

Variant Present in the following documents:

• MOL2-16-2575-s001.xlsx, sheet 1

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: 2656C>T; Gln886*

PubMed Link: 34381078

Variant Present in the following documents:

• 41598_2021_95345_MOESM4_ESM.xlsx, sheet 1

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Author Correction: Re-expression of REG family and DUOXs genes in CRC organoids by co-culturing with CAFs.

Scientific Reports

Naruse, Mie M; Ochiai, Masako M; Sekine, Shigeki S; Taniguchi, Hirokazu H; Yoshida, Teruhiko T; Ichikawa, Hitoshi H; Sakamoto, Hiromi H; Kubo, Takashi T; Matsumoto, Kenji K; Ochiai, Atsushi A; Imai, Toshio T

Publication Date: 2021-07-29

Variant appearance in text: APC: Q886*

PubMed Link: 34326351

Variant Present in the following documents:

• 41598_2021_Article_93680.pdf

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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: 2656C>T; Q886*

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Re-expression of REG family and DUOXs genes in CRC organoids by co-culturing with CAFs.

Scientific Reports

Naruse, Mie M; Ochiai, Masako M; Sekine, Shigeki S; Taniguchi, Hirokazu H; Yoshida, Teruhiko T; Ichikawa, Hitoshi H; Sakamoto, Hiromi H; Kubo, Takashi T; Matsumoto, Kenji K; Ochiai, Atsushi A; Imai, Toshio T

Publication Date: 2021-01-22

Variant appearance in text: APC: Q886*

PubMed Link: 33483567

Variant Present in the following documents:

• 41598_2021_Article_81475.pdf

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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: 2656C>T; Q886*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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The clonal evolution of metastatic colorectal cancer.

Science Advances

Dang, Ha X HX; Krasnick, Bradley A BA; White, Brian S BS; Grossman, Julie G JG; Strand, Matthew S MS; Zhang, Jin J; Cabanski, Christopher R CR; Miller, Christopher A CA; Fulton, Robert S RS; Goedegebuure, S Peter SP; Fronick, Catrina C CC; Griffith, Malachi M; Larson, David E DE; Goetz, Brian D BD; Walker, Jason R JR; Hawkins, William G WG; Strasberg, Steven M SM; Linehan, David C DC; Lim, Kian H KH; Lockhart, A Craig AC; Mardis, Elaine R ER; Wilson, Richard K RK; Ley, Timothy J TJ; Maher, Christopher A CA; Fields, Ryan C RC

Publication Date: 2020-06

Variant appearance in text: APC: Q886*

PubMed Link: 32577507

Variant Present in the following documents:

• aay9691.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: Q886*

PubMed Link: 32461694

Variant Present in the following documents:

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

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Tissue gene mutation profiles in patients with colorectal cancer and their clinical implications.

Biomedical Reports

Ye, Jun J; Lin, Mei M; Zhang, Chuanmeng C; Zhu, Xiaowei X; Li, Sumeng S; Liu, Hui H; Yin, Jianfeng J; Yu, Hong H; Zhu, Kuichun K

Publication Date: 2020-07

Variant appearance in text: APC: Q886X

PubMed Link: 32440349

Variant Present in the following documents:

• Main text

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: 2656C>T; Q886*

PubMed Link: 31745186

Variant Present in the following documents:

• 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1

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A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature.

Familial Cancer

Aydemirli, M D MD; van der Tuin, K K; Hes, F J FJ; van den Ouweland, A M W AMW; van Wezel, T T; Kapiteijn, E E; Morreau, H H

Publication Date: 2020-01

Variant appearance in text: APC: 2656C>T; Gln886*

PubMed Link: 31598872

Variant Present in the following documents:

• Main text
• 10689_2019_Article_146.pdf

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: 2656C>T; Gln886Ter

PubMed Link: 31563876

Variant Present in the following documents:

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

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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: Q886X

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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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: 2656C>T; Q886*

PubMed Link: 29937994

Variant Present in the following documents:

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

View BVdb publication page

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Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Molecular Cancer

Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S

Publication Date: 2016-10-18

Variant appearance in text: APC: 2656C>T; Gln886Ter

PubMed Link: 27756406

Variant Present in the following documents:

• 12943_2016_549_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Phase II clinical and exploratory biomarker study of dacomitinib in recurrent and/or metastatic esophageal squamous cell carcinoma.

Oncotarget

Kim, Hyo Song HS; Kim, Sung-Moo SM; Kim, Hyunki H; Pyo, Kyoung-Ho KH; Sun, Jong-Mu JM; Ahn, Myung-Ju MJ; Park, Keunchil K; Keam, Bhumsuk B; Kwon, Nak-Jung NJ; Yun, Hwan Jung HJ; Kim, Hoon-Gu HG; Chung, Ik-Joo IJ; Lee, Jong Seok JS; Lee, Kyung Hee KH; Kim, Dae Joon DJ; Lee, Chang-Geol CG; Hur, Jin J; Chung, Hyunsoo H; Park, Jun Chul JC; Shin, Sung Kwan SK; Lee, Sang Kil SK; Kim, Hye Ryun HR; Moon, Yong Wha YW; Lee, Yong Chan YC; Kim, Joo Hang JH; Paik, Soonmyung S; Cho, Byoung Chul BC

Publication Date: 2015-12-29

Variant appearance in text: APC: Q886*

PubMed Link: 26462025

Variant Present in the following documents:

• oncotarget-06-44971-s001.pdf

View BVdb publication page

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