Publications:

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Clinicopathological Characteristics and Mutational Landscape of APC, HOXB13, and KRAS among Rwandan Patients with Colorectal Cancer.

Current Issues In Molecular Biology

Manirakiza, Felix F; Rutaganda, Eric E; Yamada, Hidetaka H; Iwashita, Yuji Y; Rugwizangoga, Belson B; Seminega, Benoit B; Dusabejambo, Vincent V; Ntakirutimana, Gervais G; Ruhangaza, Deogratias D; Uwineza, Annette A; Shinmura, Kazuya K; Sugimura, Haruhiko H

Publication Date: 2023-05-16

Variant appearance in text: APC: 4189G>T; Glu1397Ter

PubMed Link: 37232746

Variant Present in the following documents:

• cimb-45-00277.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: APC: E1397*

PubMed Link: 36742322

Variant Present in the following documents:

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

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: APC: E1397*

PubMed Link: 36578946

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1
• DataSheet_2.xlsx, sheet 2

View BVdb publication page

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Phenotypic plasticity and genetic control in colorectal cancer evolution.

Nature

Househam, Jacob J; Heide, Timon T; Cresswell, George D GD; Spiteri, Inmaculada I; Kimberley, Chris C; Zapata, Luis L; Lynn, Claire C; James, Chela C; Mossner, Maximilian M; Fernandez-Mateos, Javier J; Vinceti, Alessandro A; Baker, Ann-Marie AM; Gabbutt, Calum C; Berner, Alison A; Schmidt, Melissa M; Chen, Bingjie B; Lakatos, Eszter E; Gunasri, Vinaya V; Nichol, Daniel D; Costa, Helena H; Mitchinson, Miriam M; Ramazzotti, Daniele D; Werner, Benjamin B; Iorio, Francesco F; Jansen, Marnix M; Caravagna, Giulio G; Barnes, Chris P CP; Shibata, Darryl D; Bridgewater, John J; Rodriguez-Justo, Manuel M; Magnani, Luca L; Sottoriva, Andrea A; Graham, Trevor A TA

Publication Date: 2022-11

Variant appearance in text: APC: E1397*

PubMed Link: 36289336

Variant Present in the following documents:

• 41586_2022_5311_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Cancer Communications (London, England)

Wu, Huanwen H; Yu, Zicheng Z; Liu, Yueping Y; Guo, Lei L; Teng, Lianghong L; Guo, Lingchuan L; Liang, Li L; Wang, Jing J; Gao, Jie J; Li, Ruiyu R; Yang, Ling L; Nie, Xiu X; Su, Dan D; Liang, Zhiyong Z

Publication Date: 2022-10-20

Variant appearance in text: APC: 4189G>T; E1397*

PubMed Link: 36264285

Variant Present in the following documents:

• CAC2-42-1367-s002.xlsx, sheet 3

View BVdb publication page

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Overexpression of the miR-17-92 cluster in colorectal adenoma organoids causes a carcinoma-like gene expression signature.

Neoplasia (New York, N.Y.)

Martens-de Kemp, Sanne R SR; Komor, Malgorzata A MA; Hegi, Rosa R; Bolijn, Anne S AS; Tijssen, Marianne M; de Groen, Florence L M FLM; Depla, Annekatrien A; van Leerdam, Monique M; Meijer, Gerrit A GA; Fijneman, Remond J A RJA; Carvalho, Beatriz B

Publication Date: 2022-10

Variant appearance in text: APC: E1397*

PubMed Link: 35872559

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.

Nature Communications

Robinson, Philip S PS; Thomas, Laura E LE; Abascal, Federico F; Jung, Hyunchul H; Harvey, Luke M R LMR; West, Hannah D HD; Olafsson, Sigurgeir S; Lee, Bernard C H BCH; Coorens, Tim H H THH; Lee-Six, Henry H; Butlin, Laura L; Lander, Nicola N; Truscott, Rebekah R; Sanders, Mathijs A MA; Lensing, Stefanie V SV; Buczacki, Simon J A SJA; Ten Hoopen, Rogier R; Coleman, Nicholas N; Brunton-Sim, Roxanne R; Rushbrook, Simon S; Saeb-Parsy, Kourosh K; Lalloo, Fiona F; Campbell, Peter J PJ; Martincorena, Iñigo I; Sampson, Julian R JR; Stratton, Michael R MR

Publication Date: 2022-07-08

Variant appearance in text: APC: E1397*

PubMed Link: 35803914

Variant Present in the following documents:

• 41467_2022_31341_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Mutant p53 achieved Gain-of-Function by promoting tumor growth and immune escape through PHLPP2/AKT/PD-L1 pathway.

International Journal Of Biological Sciences

Liu, Nannan N; Jiang, Xinxiu X; Guo, Leiming L; Zhang, Chuchu C; Jiang, Meimei M; Sun, Zhuoran Z; Zhang, Yizheng Y; Mi, Wunan W; Li, Jiehan J; Fu, Yang Y; Wang, Feng F; Zhang, Lingling L; Zhang, Yingjie Y

Publication Date: 2022

Variant appearance in text: APC: E1397*

PubMed Link: 35414774

Variant Present in the following documents:

• ijbsv18p2419s1.pdf
• ijbsv18p2419.pdf

View BVdb publication page

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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: E1397*

PubMed Link: 35238467

Variant Present in the following documents:

• MOL2-16-2575-s001.xlsx, sheet 1

View BVdb publication page

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Prognostic Impact of An Integrative Landscape of Clinical, Immune, and Molecular Features in Non-Metastatic Rectal Cancer.

Frontiers In Oncology

Iseas, Soledad S; Sendoya, Juan M JM; Robbio, Juan J; Coraglio, Mariana M; Kujaruk, Mirta M; Mikolaitis, Vanesa V; Rizzolo, Mariana M; Cabanne, Ana A; Ruiz, Gonzalo G; Salanova, Rubén R; Gualdrini, Ubaldo U; Méndez, Guillermo G; Antelo, Marina M; Carballido, Marcela M; Rotondaro, Cecilia C; Viglino, Julieta J; Eleta, Martín M; Di Sibio, Alejandro A; Podhajcer, Osvaldo L OL; Roca, Enrique E; Llera, Andrea S AS; Golubicki, Mariano M; Abba, Martín Carlos MC

Publication Date: 2021

Variant appearance in text: APC: E1397*

PubMed Link: 35071006

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

View BVdb publication page

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Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Cell Reports

Zhang, Yiqun Y; Chen, Fengju F; Pleasance, Erin E; Williamson, Laura L; Grisdale, Cameron J CJ; Titmuss, Emma E; Laskin, Janessa J; Jones, Steven J M SJM; Cortes-Ciriano, Isidro I; Marra, Marco A MA; Creighton, Chad J CJ

Publication Date: 2021-11-16

Variant appearance in text: APC: 4189G>T; Glu1397*

PubMed Link: 34788622

Variant Present in the following documents:

• NIHMS1757901-supplement-2.xlsx, sheet 3

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: E1397X

PubMed Link: 34549727

Variant Present in the following documents:

• jciinsight-6-148931-s278.pdf
• jciinsight-6-148931.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: 4189G>T; Glu1397*

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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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: E1397*

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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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: 4189G>T; E1397*

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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Genotyping data of routinely processed matched primary/metastatic tumor samples.

Data In Brief

Kotoula, Vassiliki V; Chatzopoulos, Kyriakos K; Papadopoulou, Kyriaki K; Giannoulatou, Eleni E; Koliou, Georgia-Angeliki GA; Karavasilis, Vasilios V; Pazarli, Elissavet E; Pervana, Stavroula S; Kafiri, Georgia G; Tsoulfas, Georgios G; Chrisafi, Sofia S; Sgouramali, Helen H; Papakostas, Pavlos P; Pectasides, Dimitrios D; Hytiroglou, Prodromos P; Pentheroudakis, George G; Fountzilas, George G

Publication Date: 2021-02

Variant appearance in text: APC: 4189G>T; Glu1397Ter

PubMed Link: 33365374

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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: E1397*

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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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: 4189G>T; E1397*

PubMed Link: 32772458

Variant Present in the following documents:

• CAS-111-3926-s001.xlsx, sheet 5

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: 4189G>T; E1397*

PubMed Link: 32736587

Variant Present in the following documents:

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

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: E1397*

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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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: E1397*

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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Latency and interval therapy affect the evolution in metastatic colorectal cancer.

Scientific Reports

Nikbakht, Hamid H; Jessa, Selin S; Sukhai, Mahadeo A MA; Arseneault, Madeleine M; Zhang, Tong T; Letourneau, Louis L; Thomas, Mariam M; Bourgey, Mathieu M; Roehrl, Michael H A MHA; Eveleigh, Robert R; Chen, Eric X EX; Krzyzanowska, Monika M; Moore, Malcolm J MJ; Giesler, Amanda A; Yu, Celeste C; Bedard, Philippe L PL; Kamel-Reid, Suzanne S; Majewski, Jacek J; Siu, Lillian L LL; Riazalhosseini, Yasser Y; Graham, Donna M DM

Publication Date: 2020-01-17

Variant appearance in text: APC: E1397*

PubMed Link: 31953485

Variant Present in the following documents:

• 41598_2020_57476_MOESM5_ESM.xlsx, sheet 1
• 41598_2020_57476_MOESM5_ESM.xlsx, sheet 4

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: 4189G>T; E1397*

PubMed Link: 31925297

Variant Present in the following documents:

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

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: E1397*

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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Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Gut

Li, Jingyun J; Wang, Rui R; Zhou, Xin X; Wang, Wendong W; Gao, Shuai S; Mao, Yunuo Y; Wu, Xinglong X; Guo, Limei L; Liu, Haijing H; Wen, Lu L; Fu, Wei W; Tang, Fuchou F

Publication Date: 2020-07

Variant appearance in text: APC: Glu1397*

PubMed Link: 31744909

Variant Present in the following documents:

• gutjnl-2019-319438supp005.xlsx, sheet 2
• gutjnl-2019-319438supp005.xlsx, sheet 3
• gutjnl-2019-319438supp006.xlsx, sheet 1
• gutjnl-2019-319438supp006.xlsx, sheet 2

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: Glu1397*

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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Correction to: Assessment of intratumor immune-microenvironment in colorectal cancers with extranodal extension of nodal metastases.

Cancer Cell International

Fassan, Matteo M; Vianello, Luca L; Sacchi, Diana D; Fanelli, Giuseppe N GN; Munari, Giada G; Scarpa, Marco M; Cappellesso, Rocco R; Loupakis, Fotios F; Lanza, Cristiano C; Salmaso, Roberta R; Mescoli, Claudia C; Valeri, Nicola N; Agostini, Marco M; D'Angelo, Edoardo E; Lonardi, Sara S; Pucciarelli, Salvatore S; Veronese, Nicola N; Luchini, Claudio C; Rugge, Massimo M

Publication Date: 2019

Variant appearance in text: APC: E1397*

PubMed Link: 31572061

Variant Present in the following documents:

• 12935_2019_Article_966.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: 4189G>T; E1397*

PubMed Link: 31563876

Variant Present in the following documents:

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

View BVdb publication page

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Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing.

Scientific Reports

Lorca, Víctor V; Rueda, Daniel D; Martín-Morales, Lorena L; Fernández-Aceñero, María Jesús MJ; Grolleman, Judith J; Poves, Carmen C; Llovet, Patricia P; Tapial, Sandra S; García-Barberán, Vanesa V; Sanz, Julián J; Pérez-Segura, Pedro P; de Voer, Richarda M RM; Díaz-Rubio, Eduardo E; de la Hoya, Miguel M; Caldés, Trinidad T; Garre, Pilar P

Publication Date: 2019-07-08

Variant appearance in text: APC: 4189G>T; Glu1397*

PubMed Link: 31285513

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular characterization of colorectal cancer using whole-exome sequencing in a Taiwanese population.

Cancer Medicine

Chang, Ya-Sian YS; Lee, Chien-Chin CC; Ke, Tao-Wei TW; Chang, Chieh-Min CM; Chao, Dy-San DS; Huang, Hsi-Yuan HY; Chang, Jan-Gowth JG

Publication Date: 2019-07

Variant appearance in text: N/A

PubMed Link: 31127692

Variant Present in the following documents:

View BVdb publication page

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Revisiting Epidermal Growth Factor Receptor (EGFR) Amplification as a Target for Anti-EGFR Therapy: Analysis of Cell-Free Circulating Tumor DNA in Patients With Advanced Malignancies.

Jco Precision Oncology

Kato, Shumei S; Okamura, Ryosuke R; Mareboina, Manvita M; Lee, Suzanna S; Goodman, Aaron A; Patel, Sandip P SP; Fanta, Paul T PT; Schwab, Richard B RB; Vu, Peter P; Raymond, Victoria M VM; Lanman, Richard B RB; Sicklick, Jason K JK; Lippman, Scott M SM; Kurzrock, Razelle R

Publication Date: 2019

Variant appearance in text: APC: E1397*

PubMed Link: 31058253

Variant Present in the following documents:

• PO.18.00180.pdf

View BVdb publication page

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Analysis of solid tumor mutation profiles in liquid biopsy.

Cancer Medicine

Balaji, Sai A SA; Shanmugam, Ashwini A; Chougule, Anuradha A; Sridharan, Srikant S; Prabhash, Kumar K; Arya, Anuradha A; Chaubey, Aditya A; Hariharan, Arun A; Kolekar, Pandurang P; Sen, Manimala M; Ravichandran, Aarthi A; Katragadda, Shanmukh S; Sankaran, Satish S; Bhargava, Saurabh S; Kulkarni, Prashanth P; Rao, Suchitra S; Sunkavalli, Chinnababu C; Banavali, Shripad S; Joshi, Amit A; Noronha, Vanita V; Dutt, Amit A; Bahadur, Urvashi U; Hariharan, Ramesh R; Veeramachaneni, Vamsi V; Gupta, Vaijayanti V

Publication Date: 2018-11

Variant appearance in text: APC: Glu1397Ter

PubMed Link: 30264478

Variant Present in the following documents:

• CAM4-7-5439-s003.xlsx, sheet 3
• CAM4-7-5439-s004.xlsx, sheet 3

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: E1397X

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: 4189G>T; E1397*

PubMed Link: 30166531

Variant Present in the following documents:

• Main text
• 41419_2018_Article_934.pdf

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: 4189G>T; E1397*

PubMed Link: 29937994

Variant Present in the following documents:

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

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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: 4189G>T; E1397*

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s022.xlsx, sheet 1

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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: E1397*

PubMed Link: 29285234

Variant Present in the following documents:

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

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Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy.

Oncotarget

Hovelson, Daniel H DH; Liu, Chia-Jen CJ; Wang, Yugang Y; Kang, Qing Q; Henderson, James J; Gursky, Amy A; Brockman, Scott S; Ramnath, Nithya N; Krauss, John C JC; Talpaz, Moshe M; Kandarpa, Malathi M; Chugh, Rashmi R; Tuck, Missy M; Herman, Kirk K; Grasso, Catherine S CS; Quist, Michael J MJ; Feng, Felix Y FY; Haakenson, Christine C; Langmore, John J; Kamberov, Emmanuel E; Tesmer, Tim T; Husain, Hatim H; Lonigro, Robert J RJ; Robinson, Dan D; Smith, David C DC; Alva, Ajjai S AS; Hussain, Maha H MH; Chinnaiyan, Arul M AM; Tewari, Muneesh M; Mills, Ryan E RE; Morgan, Todd M TM; Tomlins, Scott A SA

Publication Date: 2017-10-27

Variant appearance in text: APC: E1397X

PubMed Link: 29163793

Variant Present in the following documents:

• oncotarget-08-89848-s005.xlsx, sheet 1

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Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.

Oncotarget

Kong, Say Li SL; Liu, Xingliang X; Suhaimi, Nur-Afidah Mohamed NM; Koh, Kenneth Jia Hao KJH; Hu, Min M; Lee, Daniel Yoke San DYS; Cima, Igor I; Phyo, Wai Min WM; Lee, Esther Xing Wei EXW; Tai, Joyce A JA; Foong, Yu Miin YM; Vo, Jess Honganh JH; Koh, Poh Koon PK; Zhang, Tong T; Ying, Jackie Y JY; Lim, Bing B; Tan, Min-Han MH; Hillmer, Axel M AM

Publication Date: 2017-09-15

Variant appearance in text: APC: E1397X

PubMed Link: 28978093

Variant Present in the following documents:

• oncotarget-08-68026-s002.xlsx, sheet 5

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A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.

Ebiomedicine

Viel, Alessandra A; Bruselles, Alessandro A; Meccia, Ettore E; Fornasarig, Mara M; Quaia, Michele M; Canzonieri, Vincenzo V; Policicchio, Eleonora E; Urso, Emanuele Damiano ED; Agostini, Marco M; Genuardi, Maurizio M; Lucci-Cordisco, Emanuela E; Venesio, Tiziana T; Martayan, Aline A; Diodoro, Maria Grazia MG; Sanchez-Mete, Lupe L; Stigliano, Vittoria V; Mazzei, Filomena F; Grasso, Francesca F; Giuliani, Alessandro A; Baiocchi, Marta M; Maestro, Roberta R; Giannini, Giuseppe G; Tartaglia, Marco M; Alexandrov, Ludmil B LB; Bignami, Margherita M

Publication Date: 2017-06

Variant appearance in text: APC: 4189G>T; Glu1397Ter

PubMed Link: 28551381

Variant Present in the following documents:

• mmc7.pdf

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Whole-exome sequencing identified mutational profiles of high-grade colon adenomas.

Oncotarget

Lee, Sung Hak SH; Jung, Seung Hyun SH; Kim, Tae-Min TM; Rhee, Je-Keun JK; Park, Hyeon-Chun HC; Kim, Min Sung MS; Kim, Sung Soo SS; An, Chang Hyeok CH; Lee, Sug Hyung SH; Chung, Yeun-Jun YJ

Publication Date: 2017-01-24

Variant appearance in text: APC: 4189G>T; E1397X

PubMed Link: 28179590

Variant Present in the following documents:

• Main text
• oncotarget-08-6579-s002.xlsx, sheet 1
• oncotarget-08-6579.pdf

View BVdb publication page

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DNA copy number changes define spatial patterns of heterogeneity in colorectal cancer.

Nature Communications

Mamlouk, Soulafa S; Childs, Liam Harold LH; Aust, Daniela D; Heim, Daniel D; Melching, Friederike F; Oliveira, Cristiano C; Wolf, Thomas T; Durek, Pawel P; Schumacher, Dirk D; Bläker, Hendrik H; von Winterfeld, Moritz M; Gastl, Bastian B; Möhr, Kerstin K; Menne, Andrea A; Zeugner, Silke S; Redmer, Torben T; Lenze, Dido D; Tierling, Sascha S; Möbs, Markus M; Weichert, Wilko W; Folprecht, Gunnar G; Blanc, Eric E; Beule, Dieter D; Schäfer, Reinhold R; Morkel, Markus M; Klauschen, Frederick F; Leser, Ulf U; Sers, Christine C

Publication Date: 2017-01-25

Variant appearance in text: APC: 4189G>T; E1397*

PubMed Link: 28120820

Variant Present in the following documents:

• ncomms14093-s2.xlsx, sheet 1

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Serrated polyposis associated with a family history of colorectal cancer and/or polyps: The preferential location of polyps in the colon and rectum defines two molecular entities.

International Journal Of Molecular Medicine

Silva, Patrícia P; Albuquerque, Cristina C; Lage, Pedro P; Fontes, Vanessa V; Fonseca, Ricardo R; Vitoriano, Inês I; Filipe, Bruno B; Rodrigues, Paula P; Moita, Susana S; Ferreira, Sara S; Sousa, Rita R; Claro, Isabel I; Nobre Leitão, Carlos C; Chaves, Paula P; Dias Pereira, António A

Publication Date: 2016-09

Variant appearance in text: APC: 4189G>T; E1397X

PubMed Link: 27430658

Variant Present in the following documents:

• Main text

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

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

Publication Date: 2016-07-28

Variant appearance in text: APC: 4189G>T; E1397*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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A multigene mutation classification of 468 colorectal cancers reveals a prognostic role for APC.

Nature Communications

Schell, Michael J MJ; Yang, Mingli M; Teer, Jamie K JK; Lo, Fang Yin FY; Madan, Anup A; Coppola, Domenico D; Monteiro, Alvaro N A AN; Nebozhyn, Michael V MV; Yue, Binglin B; Loboda, Andrey A; Bien-Willner, Gabriel A GA; Greenawalt, Danielle M DM; Yeatman, Timothy J TJ

Publication Date: 2016-06-15

Variant appearance in text: APC: E1397*

PubMed Link: 27302369

Variant Present in the following documents:

• ncomms11743-s3.xlsx, sheet 1

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Development and clinical application of an integrative genomic approach to personalized cancer therapy.

Genome Medicine

Uzilov, Andrew V AV; Ding, Wei W; Fink, Marc Y MY; Antipin, Yevgeniy Y; Brohl, Andrew S AS; Davis, Claire C; Lau, Chun Yee CY; Pandya, Chetanya C; Shah, Hardik H; Kasai, Yumi Y; Powell, James J; Micchelli, Mark M; Castellanos, Rafael R; Zhang, Zhongyang Z; Linderman, Michael M; Kinoshita, Yayoi Y; Zweig, Micol M; Raustad, Katie K; Cheung, Kakit K; Castillo, Diane D; Wooten, Melissa M; Bourzgui, Imane I; Newman, Leah C LC; Deikus, Gintaras G; Mathew, Bino B; Zhu, Jun J; Glicksberg, Benjamin S BS; Moe, Aye S AS; Liao, Jun J; Edelmann, Lisa L; Dudley, Joel T JT; Maki, Robert G RG; Kasarskis, Andrew A; Holcombe, Randall F RF; Mahajan, Milind M; Hao, Ke K; Reva, Boris B; Longtine, Janina J; Starcevic, Daniela D; Sebra, Robert R; Donovan, Michael J MJ; Li, Shuyu S; Schadt, Eric E EE; Chen, Rong R

Publication Date: 2016-06-01

Variant appearance in text: APC: E1397*

PubMed Link: 27245685

Variant Present in the following documents:

• Main text
• 13073_2016_313_MOESM1_ESM.xlsx, sheet 5
• 13073_2016_Article_313.pdf

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

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

Publication Date: 2016-04-26

Variant appearance in text: APC: E1397*

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer

Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB

Publication Date: 2015-04-14

Variant appearance in text: APC: 4189G>T; Glu1397Ter

PubMed Link: 25742471

Variant Present in the following documents:

• bjc201580x7.xls, sheet 1

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Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.

Genome Biology

Brannon, A Rose AR; Vakiani, Efsevia E; Sylvester, Brooke E BE; Scott, Sasinya N SN; McDermott, Gregory G; Shah, Ronak H RH; Kania, Krishan K; Viale, Agnes A; Oschwald, Dayna M DM; Vacic, Vladimir V; Emde, Anne-Katrin AK; Cercek, Andrea A; Yaeger, Rona R; Kemeny, Nancy E NE; Saltz, Leonard B LB; Shia, Jinru J; D'Angelica, Michael I MI; Weiser, Martin R MR; Solit, David B DB; Berger, Michael F MF

Publication Date: 2014-08-28

Variant appearance in text: APC: 4189G>T; E1397*

PubMed Link: 25164765

Variant Present in the following documents:

• 13059_2014_454_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Validation and utilisation of high-coverage next-generation sequencing to deliver the pharmacological audit trail.

British Journal Of Cancer

Ong, M M; Carreira, S S; Goodall, J J; Mateo, J J; Figueiredo, I I; Rodrigues, D N DN; Perkins, G G; Seed, G G; Yap, T A TA; Attard, G G; de Bono, J S JS

Publication Date: 2014-08-26

Variant appearance in text: APC: E1397*

PubMed Link: 24983367

Variant Present in the following documents:

View BVdb publication page

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Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients.

Plos One

Vasovcak, Peter P; Pavlikova, Kristyna K; Sedlacek, Zdenek Z; Skapa, Petr P; Kouda, Martin M; Hoch, Jiri J; Krepelova, Anna A

Publication Date: 2011

Variant appearance in text: APC: 4189G>T; Glu1397X

PubMed Link: 21901162

Variant Present in the following documents:

• pone.0024114.s001.xls, sheet 1
• pone.0024114.s001.xls, sheet 3

View BVdb publication page

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Allele-specific expression of APC in adenomatous polyposis families.

Gastroenterology

Castellsagué, Ester E; González, Sara S; Guinó, Elisabet E; Stevens, Kristen N KN; Borràs, Ester E; Raymond, Victoria M VM; Lázaro, Conxi C; Blanco, Ignacio I; Gruber, Stephen B SB; Capellá, Gabriel G

Publication Date: 2010-08

Variant appearance in text: APC: 4189G>T; Glu1397X

PubMed Link: 20434453

Variant Present in the following documents:

• Main text

View BVdb publication page

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