Publications:

---

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: 4216C>T; Gln1406Ter; rs587782518

PubMed Link: 37232746

Variant Present in the following documents:

• cimb-45-00277.pdf

View BVdb publication page

---

Whole genome sequencing of Malaysian colorectal cancer patients reveals specific druggable somatic mutations.

Frontiers In Molecular Biosciences

Mohd Yunos, Ryia Illani RI; Ab Mutalib, Nurul-Syakima NS; Khoo, Jia-Shiun JS; Saidin, Sazuita S; Ishak, Muhiddin M; Syafruddin, Saiful Effendi SE; Tieng, Francis Yew Fu FYF; Md Yusof, Najwa Farhah NF; Abd Razak, Mohd Ridhwan MR; Mahamad Nadzir, Norshahidah N; Abu, Nadiah N; Rose, Isa Md IM; Sagap, Ismail I; Mazlan, Luqman L; Jamal, Rahman R

Publication Date: 2022

Variant appearance in text: APC: Q1406X; rs587782518

PubMed Link: 36866106

Variant Present in the following documents:

• Main text
• fmolb-09-997747.pdf

View BVdb publication page

---

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: 4216C>T; Gln1406Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

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: Q1406*; rs587782518

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1

View BVdb publication page

---

EV-ADD, a database for EV-associated DNA in human liquid biopsy samples.

Journal Of Extracellular Vesicles

Tsering, Thupten T; Li, Mingyang M; Chen, Yunxi Y; Nadeau, Amélie A; Laskaris, Alexander A; Abdouh, Mohamed M; Bustamante, Prisca P; Burnier, Julia V JV

Publication Date: 2022-10

Variant appearance in text: APC: Q1406X

PubMed Link: 36271888

Variant Present in the following documents:

• JEV2-11-e12270-s002.xlsx, sheet 1

View BVdb publication page

---

Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients.

Journal Of Hematology & Oncology

Hallermayr, Ariane A; Wohlfrom, Tobias T; Steinke-Lange, Verena V; Benet-Pagès, Anna A; Scharf, Florentine F; Heitzer, Ellen E; Mansmann, Ulrich U; Haberl, Christopher C; de Wit, Maike M; Vogelsang, Holger H; Rentsch, Markus M; Holinski-Feder, Elke E; Pickl, Julia M A JMA

Publication Date: 2022-09-02

Variant appearance in text: APC: 4216C>T; Gln1406*

PubMed Link: 36056434

Variant Present in the following documents:

• 13045_2022_1342_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy.

Journal Of Clinical Medicine

Serio, Viola Bianca VB; Palmieri, Maria M; Loberti, Lorenzo L; Granata, Stefania S; Fallerini, Chiara C; Vaghi, Massimo M; Renieri, Alessandra A; Pinto, Anna Maria AM

Publication Date: 2022-06-28

Variant appearance in text: APC: 4216C>T; Gln1406*

PubMed Link: 35807022

Variant Present in the following documents:

• Main text
• jcm-11-03740.pdf

View BVdb publication page

---

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: Q1406X

PubMed Link: 35550340

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

---

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: Q1406*

PubMed Link: 35238467

Variant Present in the following documents:

• MOL2-16-2575-s001.xlsx, sheet 1

View BVdb publication page

---

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

Npj Precision Oncology

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

Publication Date: 2022-03-01

Variant appearance in text: APC: Gln1406Ter

PubMed Link: 35233056

Variant Present in the following documents:

• 41698_2022_256_MOESM1_ESM.pdf

View BVdb publication page

---

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

Nature Biotechnology

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

Publication Date: 2022-06

Variant appearance in text: APC: Q1406*

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
• NIHMS1760571-supplement-1760571_Sup_Info.pdf
• NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6

View BVdb publication page

---

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: Q1406*

PubMed Link: 35071006

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

View BVdb publication page

---

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

Communications Biology

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

Publication Date: 2021-12-15

Variant appearance in text: APC: 4216C>T; Gln1406*

PubMed Link: 34912045

Variant Present in the following documents:

• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 6
• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

---

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

Communications Biology

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

Publication Date: 2021-12-15

Variant appearance in text: APC: 4216C>T; Gln1406*

PubMed Link: 34912045

Variant Present in the following documents:

• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 6
• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

---

Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology

Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L

Publication Date: 2021

Variant appearance in text: APC: 4216C>T; Q1406*

PubMed Link: 34858840

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

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: 4216C>T; Gln1406*

PubMed Link: 34788622

Variant Present in the following documents:

• NIHMS1757901-supplement-2.xlsx, sheet 3

View BVdb publication page

---

Extracellular Vesicle-Derived DNA vs. CfDNA as a Biomarker for the Detection of Colon Cancer.

Genes

Thakur, Kavita K; Singh, Manu Smriti MS; Feldstein-Davydova, Sara S; Hannes, Victoria V; Hershkovitz, Dov D; Tsuriel, Shlomo S

Publication Date: 2021-07-29

Variant appearance in text: APC: 4216C>T; Q1406X

PubMed Link: 34440345

Variant Present in the following documents:

• Main text
• genes-12-01171.pdf

View BVdb publication page

---

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: 4216C>T; Gln1406*; rs587782518

PubMed Link: 34315821

Variant Present in the following documents:

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

View BVdb publication page

---

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

Journal Of Hematology & Oncology

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

Publication Date: 2021-05-17

Variant appearance in text: APC: Q1406*

PubMed Link: 34001194

Variant Present in the following documents:

• 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

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

Bmc Cancer

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

Publication Date: 2021-03-16

Variant appearance in text: APC: Q1406*

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One

Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R

Publication Date: 2021

Variant appearance in text: APC: Q1406*

PubMed Link: 33556149

Variant Present in the following documents:

• pone.0246048.s008.xlsx, sheet 1

View BVdb publication page

---

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

Cell Death And Differentiation

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

Publication Date: 2021-07

Variant appearance in text: APC: 4216C>T; Gln1406*; rs587782518

PubMed Link: 33531658

Variant Present in the following documents:

• 41418_2020_733_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Non-invasive lung cancer diagnosis and prognosis based on multi-analyte liquid biopsy.

Molecular Cancer

Chen, Kezhong K; Sun, Jianlong J; Zhao, Heng H; Jiang, Ruijingfang R; Zheng, Jianchao J; Li, Zhilong Z; Peng, Jiaxi J; Shen, Haifeng H; Zhang, Kai K; Zhao, Jin J; Zhu, Shida S; Wang, Yuying Y; Yang, Fan F; Wang, Jun J

Publication Date: 2021-01-29

Variant appearance in text: APC: 4216C>T; Q1406*

PubMed Link: 33514352

Variant Present in the following documents:

• 12943_2021_1323_MOESM2_ESM.xlsx, sheet 4
• 12943_2021_1323_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

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

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: APC: 4216C>T; Q1406*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

APC Mutations Are Not Confined to Hotspot Regions in Early-Onset Colorectal Cancer.

Cancers

Aitchison, Alan A; Hakkaart, Christopher C; Day, Robert C RC; Morrin, Helen R HR; Frizelle, Frank A FA; Keenan, Jacqueline I JI

Publication Date: 2020-12-18

Variant appearance in text: APC: 4216C>T; Q1406X; rs587782518

PubMed Link: 33352971

Variant Present in the following documents:

• Main text
• cancers-12-03829.pdf

View BVdb publication page

---

Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: APC: 4216C>T; Q1406*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

---

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: Q1406*

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

View BVdb publication page

---

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: 4216C>T; Gln1406Ter

PubMed Link: 33083132

Variant Present in the following documents:

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

View BVdb publication page

---

Detection of circulating tumor DNA in patients of operative colorectal and gastric cancers.

Oncotarget

Suzuki, Takeyuki T; Suzuki, Tetsutaro T; Yoshimura, Yukino Y; Yahata, Mitsunori M; Yew, Poh Yin PY; Nakamura, Tetsuya T; Nakamura, Yusuke Y; Park, Jae-Hyun JH; Matsuo, Ryota R

Publication Date: 2020-08-25

Variant appearance in text: APC: 4216C>T

PubMed Link: 32922660

Variant Present in the following documents:

• oncotarget-11-3198-s001.pdf

View BVdb publication page

---

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: Q1406*

PubMed Link: 32810930

Variant Present in the following documents:

• crt-2020-559-suppl3.pdf

View BVdb publication page

---

Analysis of CRISPR-Cas9 screens identifies genetic dependencies in melanoma.

Pigment Cell & Melanoma Research

Christodoulou, Eirini E; Rashid, Mamunur M; Pacini, Clare C; Droop, Alastair A; Robertson, Holly H; Groningen, Tim van TV; Teunisse, Amina F A S AFAS; Iorio, Francesco F; Jochemsen, Aart G AG; Adams, David J DJ; Doorn, Remco van RV

Publication Date: 2021-01

Variant appearance in text: APC: Q1406*

PubMed Link: 32767816

Variant Present in the following documents:

• PCMR-34-122-s006.xlsx, sheet 1

View BVdb publication page

---

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

Nature Communications

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

Publication Date: 2020-07-30

Variant appearance in text: APC: Q1406*

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

View BVdb publication page

---

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

Nature Communications

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

Publication Date: 2020-07-20

Variant appearance in text: APC: Q1406X

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

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: Q1406*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

Phase and context shape the function of composite oncogenic mutations.

Nature

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

Publication Date: 2020-06

Variant appearance in text: APC: Q1406*

PubMed Link: 32461694

Variant Present in the following documents:

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

View BVdb publication page

---

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

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: APC: 4216C>T; Q1406*

PubMed Link: 31925297

Variant Present in the following documents:

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

View BVdb publication page

---

Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine

Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D

Publication Date: 2019-12

Variant appearance in text: APC: 4216C>T

PubMed Link: 31792460

Variant Present in the following documents:

• 41591_2019_654_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: Q1406*

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

---

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: 4216C>T; Q1406*

PubMed Link: 31745186

Variant Present in the following documents:

• 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: Gln1406Ter

PubMed Link: 31681791

Variant Present in the following documents:

• Data_Sheet_5.pdf

View BVdb publication page

---

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: Gln1406*

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 4216C>T; Q1406*

PubMed Link: 31563876

Variant Present in the following documents:

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

View BVdb publication page

---

Targeted sequencing identifies the mutational signature of double primary and metastatic malignancies: a case report.

Diagnostic Pathology

Rao, Chuangzhou C; Nie, Liangqin L; Miao, Xiaobo X; Lizaso, Analyn A; Zhao, Guofang G

Publication Date: 2019-09-04

Variant appearance in text: APC: 4216C>T; Q1406X

PubMed Link: 31484545

Variant Present in the following documents:

• 13000_2019_Article_874.pdf

View BVdb publication page

---

Development and Application of Duplex Sequencing Strategy for Cell-Free DNA-Based Longitudinal Monitoring of Stage IV Colorectal Cancer.

The Journal Of Molecular Diagnostics : Jmd

Mallampati, Saradhi S; Zalles, Stephanie S; Duose, Dzifa Y DY; Hu, Peter C PC; Medeiros, L Jeffrey LJ; Wistuba, Ignacio I II; Kopetz, Scott S; Luthra, Rajyalakshmi R

Publication Date: 2019-11

Variant appearance in text: APC: Q1406X

PubMed Link: 31401123

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Correlation between early dynamics in circulating tumour DNA and outcome from FOLFIRI treatment in metastatic colorectal cancer.

Scientific Reports

Lyskjær, Iben I; Kronborg, Camilla Skovhus CS; Rasmussen, Mads Heilskov MH; Sørensen, Boe Sandahl BS; Demuth, Christina C; Rosenkilde, Mona M; Johansen, Amanda Frydendahl Boll AFB; Knudsen, Michael M; Vang, Søren S; Krag, Søren Rasmus Palmelund SRP; Spindler, Karen-Lise Garm KG; Andersen, Claus Lindbjerg CL

Publication Date: 2019-08-08

Variant appearance in text: APC: Gln1406*

PubMed Link: 31395942

Variant Present in the following documents:

• 41598_2019_47708_MOESM2_ESM.xlsx, sheet 6

View BVdb publication page

---

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: Q1406X

PubMed Link: 30925167

Variant Present in the following documents:

• pgen.1008076.s018.xlsx, sheet 1

View BVdb publication page

---

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

Genome Biology

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

Publication Date: 2019-03-14

Variant appearance in text: APC: Q1406*

PubMed Link: 30867008

Variant Present in the following documents:

• 13059_2019_1659_MOESM1_ESM.xlsx, sheet 7

View BVdb publication page

---

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Hereditary Cancer In Clinical Practice

Henn, Jonas J; Spier, Isabel I; Adam, Ronja S RS; Holzapfel, Stefanie S; Uhlhaas, Siegfried S; Kayser, Katrin K; Plotz, Guido G; Peters, Sophia S; Aretz, Stefan S

Publication Date: 2019

Variant appearance in text: APC: 4216C>T

PubMed Link: 30680046

Variant Present in the following documents:

• 13053_2018_Article_102.pdf

View BVdb publication page

---

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: Q1406*

PubMed Link: 30202034

Variant Present in the following documents:

• 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30

View BVdb publication page

---

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: Q1406X

PubMed Link: 30202008

Variant Present in the following documents:

• 41467_2018_6132_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 4216C>T; Q1406*

PubMed Link: 30105577

Variant Present in the following documents:

• 428_2018_2411_MOESM3_ESM.xlsx, sheet 1
• 428_2018_2411_MOESM2_ESM.xlsx, sheet 1
• 428_2018_2411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 4216C>T; Q1406*

PubMed Link: 29755662

Variant Present in the following documents:

• Main text
• oncotarget-09-20426.pdf

View BVdb publication page

---

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: Q1406X

PubMed Link: 29703253

Variant Present in the following documents:

• 12885_2018_4298_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 4216C>T; Q1406*

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s022.xlsx, sheet 1

View BVdb publication page

---

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: Q1406*

PubMed Link: 29285234

Variant Present in the following documents:

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

View BVdb publication page

---

Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.

Scientific Reports

Khan, Nikhat N; Lipsa, Anuja A; Arunachal, Gautham G; Ramadwar, Mukta M; Sarin, Rajiv R

Publication Date: 2017-05-22

Variant appearance in text: APC: Q1406*

PubMed Link: 28533537

Variant Present in the following documents:

• Main text
• 41598_2017_Article_2319.pdf

View BVdb publication page

---

CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells.

Gut

Manic, Gwenola G; Signore, Michele M; Sistigu, Antonella A; Russo, Giorgio G; Corradi, Francesca F; Siteni, Silvia S; Musella, Martina M; Vitale, Sara S; De Angelis, Maria Laura ML; Pallocca, Matteo M; Amoreo, Carla Azzurra CA; Sperati, Francesca F; Di Franco, Simone S; Barresi, Sabina S; Policicchio, Eleonora E; De Luca, Gabriele G; De Nicola, Francesca F; Mottolese, Marcella M; Zeuner, Ann A; Fanciulli, Maurizio M; Stassi, Giorgio G; Maugeri-Saccà, Marcello M; Baiocchi, Marta M; Tartaglia, Marco M; Vitale, Ilio I; De Maria, Ruggero R

Publication Date: 2018-05

Variant appearance in text: APC: 4216C>T; Gln1406Ter

PubMed Link: 28389531

Variant Present in the following documents:

• gutjnl-2016-312623supp002.pdf

View BVdb publication page

---

Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: APC: Q1406X

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

View BVdb publication page

---

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: APC: 4216C>T; Q1406*

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

View BVdb publication page

---

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: 4216C>T; Q1406*

PubMed Link: 28120820

Variant Present in the following documents:

• ncomms14093-s2.xlsx, sheet 1

View BVdb publication page

---

Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget

Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-01-31

Variant appearance in text: APC: Q1406X

PubMed Link: 28002797

Variant Present in the following documents:

• oncotarget-08-7852-s002.xlsx, sheet 17

View BVdb publication page

---

The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: APC: 4216C>T; Q1406*

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

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

Publication Date: 2016-07-28

Variant appearance in text: APC: 4216C>T; Q1406*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

---