APC c.4012C>T ;(p.Q1338*)

Variant ID: 5-112175303-C-T

NM_000038.5(APC):c.4012C>T;(p.Q1338*)

This variant was identified in 89 publications

View GRCh38 version.




Publications:


Glutamine Starvation Affects Cell Cycle, Oxidative Homeostasis and Metabolism in Colorectal Cancer Cells.

Antioxidants (Basel, Switzerland)
Spada, Martina M; Piras, Cristina C; Diana, Giulia G; Leoni, Vera Piera VP; Frau, Daniela Virginia DV; Serreli, Gabriele G; Simbula, Gabriella G; Loi, Roberto R; Noto, Antonio A; Murgia, Federica F; Caria, Paola P; Atzori, Luigi L
Publication Date: 2023-03-10

Variant appearance in text: APC: 4012C>T
PubMed Link: 36978930
Variant Present in the following documents:
  • antioxidants-12-00683.pdf
View BVdb publication page



Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: APC: 4012C>T; Gln1338Ter; rs121913327
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 3
  • crc-22-0136-s01.xlsx, sheet 1
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: 4012C>T; Gln1338Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: Q1338*
PubMed Link: 36578946
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 1
  • DataSheet_2.xlsx, sheet 2
View BVdb publication page



Genetic landscape of colorectal cancer patients manifesting tumor shrinkage during SARS-Cov-2 infection.

Therapeutic Advances In Medical Oncology
Ottaiano, Alessandro A; Santorsola, Mariachiara M; Circelli, Luisa L; Cascella, Marco M; Petrillo, Nadia N; Perri, Francesco F; Casillo, Marika M; Granata, Vincenza V; Ianniello, Monica M; Izzo, Francesco F; Picone, Carmine C; Correra, Marco M; Petrillo, Antonella A; Sirica, Roberto R; Misso, Gabriella G; Delrio, Paolo P; Nasti, Guglielmo G; Savarese, Giovanni G; Caraglia, Michele M
Publication Date: 2022

Variant appearance in text: APC: Gln1338Ter
PubMed Link: 36518158
Variant Present in the following documents:
  • Main text
  • 10.1177_17588359221138388.pdf
  • sj-xlsx-2-tam-10.1177_17588359221138388.xlsx, sheet 1
View BVdb publication page



Identification of odontogenic ameloblast associated as a novel target gene of the Wnt/β-catenin signaling pathway.

Cancer Science
Yamaguchi, Kiyoshi K; Horie, Chiaki C; Takane, Kiyoko K; Ikenoue, Tsuneo T; Nakagawa, Saya S; Isobe, Yumiko Y; Ota, Yasunori Y; Ushiku, Tetsuo T; Tanaka, Mariko M; Fujishiro, Jun J; Hoshino, Noriko N; Arisue, Atsuhiro A; Nishizuka, Satoshi S; Aikou, Susumu S; Shida, Dai D; Furukawa, Yoichi Y
Publication Date: 2022-11-16

Variant appearance in text: APC: Gln1338Ter
PubMed Link: 36382598
Variant Present in the following documents:
  • Main text
  • CAS-114-948.pdf
View BVdb publication page



Heterogeneity of the cancer cell line metabolic landscape.

Molecular Systems Biology
Shorthouse, David D; Bradley, Jenna J; Critchlow, Susan E SE; Bendtsen, Claus C; Hall, Benjamin A BA
Publication Date: 2022-11

Variant appearance in text: APC: 4012C>T; Gln1338Ter
PubMed Link: 36321551
Variant Present in the following documents:
  • MSB-18-e11006-s010.xlsx, sheet 1
View BVdb publication page



Role of N-Cadherin in Epithelial-to-Mesenchymal Transition and Chemosensitivity of Colon Carcinoma Cells.

Cancers
Skarkova, Veronika V; Vitovcova, Barbora B; Matouskova, Petra P; Manethova, Monika M; Kazimirova, Petra P; Skarka, Adam A; Brynychova, Veronika V; Soucek, Pavel P; Vosmikova, Hana H; Rudolf, Emil E
Publication Date: 2022-10-20

Variant appearance in text: APC: 4012C>T
PubMed Link: 36291930
Variant Present in the following documents:
  • cancers-14-05146.pdf
View BVdb publication page



Butyrate Inhibits Colorectal Cancer Cell Proliferation through Autophagy Degradation of β-Catenin Regardless of APC and β-Catenin Mutational Status.

Biomedicines
Garavaglia, Beatrice B; Vallino, Letizia L; Ferraresi, Alessandra A; Esposito, Andrea A; Salwa, Amreen A; Vidoni, Chiara C; Gentilli, Sergio S; Isidoro, Ciro C
Publication Date: 2022-05-13

Variant appearance in text: APC: Q1338*
PubMed Link: 35625868
Variant Present in the following documents:
  • Main text
  • biomedicines-10-01131.pdf
View BVdb publication page



A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease
Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X
Publication Date: 2022-04-22

Variant appearance in text: APC: Q1338*
PubMed Link: 35459861
Variant Present in the following documents:
  • 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Targeting Myc-driven stress vulnerability in mutant KRAS colorectal cancer.

Molecular Biomedicine
Ruan, Hang H; Leibowitz, Brian J BJ; Peng, Yingpeng Y; Shen, Lin L; Chen, Lujia L; Kuang, Charlie C; Schoen, Robert E RE; Lu, Xinghua X; Zhang, Lin L; Yu, Jian J
Publication Date: 2022-03-21

Variant appearance in text: APC: Q1338*
PubMed Link: 35307764
Variant Present in the following documents:
  • 43556_2022_70_MOESM1_ESM.pdf
View BVdb publication page



IKKα plays a major role in canonical NF-κB signalling in colorectal cells.

The Biochemical Journal
Prescott, Jack A JA; Balmanno, Kathryn K; Mitchell, Jennifer P JP; Okkenhaug, Hanneke H; Cook, Simon J SJ
Publication Date: 2022-02-11

Variant appearance in text: APC: Q1338*
PubMed Link: 35029639
Variant Present in the following documents:
  • Main text
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: 4012C>T; Q1338*
PubMed Link: 34858840
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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

Genome Medicine
Shin, GiWon G; Greer, Stephanie U SU; Hopmans, Erik E; Grimes, Susan M SM; Lee, HoJoon H; Zhao, Lan L; Miotke, Laura L; Suarez, Carlos C; Almeda, Alison F AF; Haraldsdottir, Sigurdis S; Ji, Hanlee P HP
Publication Date: 2021-09-06

Variant appearance in text: APC: Q1338*; rs121913327
PubMed Link: 34488871
Variant Present in the following documents:
  • 13073_2021_958_MOESM2_ESM.xlsx, sheet 15
View BVdb publication page



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: 4012C>T; Gln1338*; rs121913327
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



Reconstitution of the destruction complex defines roles of AXIN polymers and APC in β-catenin capture, phosphorylation, and ubiquitylation.

Molecular Cell
Ranes, Michael M; Zaleska, Mariola M; Sakalas, Saira S; Knight, Ruth R; Guettler, Sebastian S
Publication Date: 2021-08-19

Variant appearance in text: APC: Q1338*
PubMed Link: 34352208
Variant Present in the following documents:
  • mmc1.pdf
  • mmc3.pdf
View BVdb publication page



Establishment and characterization of a new human colon cancer cell line, PUMC-CRC1.

Scientific Reports
Bian, Xiaocui X; Cao, Fang F; Wang, Xiaowan X; Hou, Yuhong Y; Zhao, Haitao H; Liu, Yuqin Y
Publication Date: 2021-06-23

Variant appearance in text: APC: Q1338*
PubMed Link: 34162944
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_92491.pdf
View BVdb publication page



Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.

Genome Medicine
Tsui, Dana W Y DWY; Cheng, Michael L ML; Shady, Maha M; Yang, Julie L JL; Stephens, Dennis D; Won, Helen H; Srinivasan, Preethi P; Huberman, Kety K; Meng, Fanli F; Jing, Xiaohong X; Patel, Juber J; Hasan, Maysun M; Johnson, Ian I; Gedvilaite, Erika E; Houck-Loomis, Brian B; Socci, Nicholas D ND; Selcuklu, S Duygu SD; Seshan, Venkatraman E VE; Zhang, Hongxin H; Chakravarty, Debyani D; Zehir, Ahmet A; Benayed, Ryma R; Arcila, Maria M; Ladanyi, Marc M; Funt, Samuel A SA; Feldman, Darren R DR; Li, Bob T BT; Razavi, Pedram P; Rosenberg, Jonathan J; Bajorin, Dean D; Iyer, Gopa G; Abida, Wassim W; Scher, Howard I HI; Rathkopf, Dana D; Viale, Agnes A; Berger, Michael F MF; Solit, David B DB
Publication Date: 2021-05-31

Variant appearance in text: APC: Q1338*
PubMed Link: 34059130
Variant Present in the following documents:
  • 13073_2021_898_MOESM3_ESM.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: Q1338*
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: 4012C>T; Q1338*
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Frequent post-operative monitoring of colorectal cancer using individualised ctDNA validated by multiregional molecular profiling.

British Journal Of Cancer
Yaegashi, Mizunori M; Iwaya, Takeshi T; Sasaki, Noriyuki N; Fujita, Masashi M; Ju, Zhenlin Z; Siwak, Doris D; Hachiya, Tsuyoshi T; Sato, Kei K; Endo, Fumitaka F; Kimura, Toshimoto T; Otsuka, Koki K; Sugimoto, Ryo R; Sugai, Tamotsu T; Liotta, Lance L; Lu, Yiling Y; Mills, Gordon B GB; Nakagawa, Hidewaki H; Nishizuka, Satoshi S SS
Publication Date: 2021-04

Variant appearance in text: APC: 4012C>T
PubMed Link: 33658639
Variant Present in the following documents:
  • 41416_2021_Article_1266.pdf
View BVdb publication page



Frequent post-operative monitoring of colorectal cancer using individualised ctDNA validated by multiregional molecular profiling.

British Journal Of Cancer
Yaegashi, Mizunori M; Iwaya, Takeshi T; Sasaki, Noriyuki N; Fujita, Masashi M; Ju, Zhenlin Z; Siwak, Doris D; Hachiya, Tsuyoshi T; Sato, Kei K; Endo, Fumitaka F; Kimura, Toshimoto T; Otsuka, Koki K; Sugimoto, Ryo R; Sugai, Tamotsu T; Liotta, Lance L; Lu, Yiling Y; Mills, Gordon B GB; Nakagawa, Hidewaki H; Nishizuka, Satoshi S SS
Publication Date: 2021-04

Variant appearance in text: APC: 4012C>T
PubMed Link: 33658639
Variant Present in the following documents:
  • 41416_2021_Article_1266.pdf
View BVdb publication page



Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Publication Date: 2021-04-01

Variant appearance in text: APC: Q1338*
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
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: 4012C>T; Q1338*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Beyond TNBC: Repositioning of Clofazimine Against a Broad Range of Wnt-Dependent Cancers.

Frontiers In Oncology
Xu, Jiabin J; Koval, Alexey A; Katanaev, Vladimir L VL
Publication Date: 2020

Variant appearance in text: APC: Q1338*
PubMed Link: 33363033
Variant Present in the following documents:
  • Main text
  • fonc-10-602817.pdf
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: Q1338*
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



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

Bmc Biology
Mamlouk, Soulafa S; Simon, Tincy T; Tomás, Laura L; Wedge, David C DC; Arnold, Alexander A; Menne, Andrea A; Horst, David D; Capper, David D; Morkel, Markus M; Posada, David D; Sers, Christine C; Bläker, Hendrik H
Publication Date: 2020-09-07

Variant appearance in text: APC: 4012C>T; Q1338*
PubMed Link: 32895052
Variant Present in the following documents:
  • 12915_2020_844_MOESM3_ESM.xlsx, sheet 1
  • 12915_2020_844_MOESM1_ESM.pdf
View BVdb publication page



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: Q1338*
PubMed Link: 32810930
Variant Present in the following documents:
  • crt-2020-559-suppl3.pdf
View BVdb publication page



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: 4012C>T; Q1338*
PubMed Link: 32736587
Variant Present in the following documents:
  • 13058_2020_1322_MOESM3_ESM.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: Q1338*
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: Q1338X
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: Q1338*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



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

British Journal Of Cancer
Park, Ji Won JW; Chang, Hee Jin HJ; Yeo, Hyun Yang HY; Han, Nayoung N; Kim, Byung Chang BC; Kong, Sun-Young SY; Kim, Jeongseon J; Oh, Jae Hwan JH
Publication Date: 2020-08

Variant appearance in text: APC: Q1338*
PubMed Link: 32488137
Variant Present in the following documents:
  • 41416_2020_924_MOESM1_ESM.pdf
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: Q1338*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



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

Science Advances
Shin, Seung-Min SM; Kim, Ji-Sun JS; Park, Seong-Wook SW; Jun, Sei-Yong SY; Kweon, Hye-Jin HJ; Choi, Dong-Ki DK; Lee, Dakeun D; Cho, Yong Beom YB; Kim, Yong-Sung YS
Publication Date: 2020-01

Variant appearance in text: APC: Q1338*
PubMed Link: 31998840
Variant Present in the following documents:
  • aay2174_SM.pdf
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: 4012C>T; Q1338*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Establishment of patient-derived xenograft model of peritoneal mucinous carcinomatosis with signet ring cells and in vivo study on the efficacy and toxicity of intraperitoneal injection of 5-fluorouracil.

Cancer Medicine
Lin, Yu-Lin YL; Zhang, Jue J; Yan, Feng-Cai FC; Jiang, Xi X; Ma, Ru R; Yang, Zhi-Ran ZR; Xu, Hong-Bin HB; Peng, Zheng Z; Chen, Qian Q; Li, Yan Y
Publication Date: 2020-02

Variant appearance in text: APC: Q1338X
PubMed Link: 31814323
Variant Present in the following documents:
  • Main text
  • CAM4-9-1104.pdf
View BVdb publication page



Mutation Profiling of Premalignant Colorectal Neoplasia.

Gastroenterology Research And Practice
Karczmarski, Jakub J; Goryca, Krzysztof K; Pachlewski, Jacek J; Dabrowska, Michalina M; Pysniak, Kazimiera K; Paziewska, Agnieszka A; Kulecka, Maria M; Lenarcik, Malgorzata M; Mroz, Andrzej A; Mikula, Michal M; Ostrowski, Jerzy J
Publication Date: 2019

Variant appearance in text: APC: Q1338X; rs121913327
PubMed Link: 31781186
Variant Present in the following documents:
  • 2542640.f1.xlsx, sheet 1
View BVdb publication page



DAPK1 loss triggers tumor invasion in colorectal tumor cells.

Cell Death & Disease
Steinmann, Sara S; Kunze, Philipp P; Hampel, Chuanpit C; Eckstein, Markus M; Bertram Bramsen, Jesper J; Muenzner, Julienne K JK; Carlé, Birgitta B; Ndreshkjana, Benardina B; Kemenes, Stephan S; Gasparini, Pierluigi P; Friedrich, Oliver O; Andersen, Claus C; Geppert, Carol C; Wang, Shengbao S; Eyupoglu, Ilker I; Bäuerle, Tobias T; Hartmann, Arndt A; Schneider-Stock, Regine R
Publication Date: 2019-11-26

Variant appearance in text: APC: Q1338*
PubMed Link: 31772156
Variant Present in the following documents:
  • 41419_2019_2122_MOESM6_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: Q1338*
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 3
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: 4012C>T; Gln1338Ter
PubMed Link: 31563876
Variant Present in the following documents:
  • gutjnl-2019-319126supp003.xlsx, sheet 3
View BVdb publication page



Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Scientific Reports
Dos Santos, Wellington W; Sobanski, Thais T; de Carvalho, Ana Carolina AC; Evangelista, Adriane Feijó AF; Matsushita, Marcus M; Berardinelli, Gustavo Nóriz GN; de Oliveira, Marco Antonio MA; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP
Publication Date: 2019-09-23

Variant appearance in text: APC: Gln1338Ter; rs121913327
PubMed Link: 31548566
Variant Present in the following documents:
  • 41598_2019_49611_MOESM1_ESM.pdf
View BVdb publication page



False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One
Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM
Publication Date: 2019

Variant appearance in text: APC: 4012C>T; Q1338*
PubMed Link: 31513681
Variant Present in the following documents:
  • pone.0222535.s006.xlsx, sheet 1
View BVdb publication page



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

Nature Communications
Menden, Michael P MP; Wang, Dennis D; Mason, Mike J MJ; Szalai, Bence B; Bulusu, Krishna C KC; Guan, Yuanfang Y; Yu, Thomas T; Kang, Jaewoo J; Jeon, Minji M; Wolfinger, Russ R; Nguyen, Tin T; Zaslavskiy, Mikhail M; , ; Jang, In Sock IS; Ghazoui, Zara Z; Ahsen, Mehmet Eren ME; Vogel, Robert R; Neto, Elias Chaibub EC; Norman, Thea T; Tang, Eric K Y EKY; Garnett, Mathew J MJ; Veroli, Giovanni Y Di GYD; Fawell, Stephen S; Stolovitzky, Gustavo G; Guinney, Justin J; Dry, Jonathan R JR; Saez-Rodriguez, Julio J
Publication Date: 2019-06-17

Variant appearance in text: APC: Q1338*
PubMed Link: 31209238
Variant Present in the following documents:
  • 41467_2019_9799_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



In vivo effects of chemotherapy on oncogenic pathways in colorectal cancer.

Cancer Science
Spartalis, Christoph C; Schmidt, Eva Marina EM; Elmasry, Manal M; Schulz, Gerald Bastian GB; Kirchner, Thomas T; Horst, David D
Publication Date: 2019-08

Variant appearance in text: APC: Q1338*
PubMed Link: 31119819
Variant Present in the following documents:
  • Main text
  • CAS-110-2529.pdf
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: Q1338*
PubMed Link: 30867008
Variant Present in the following documents:
  • 13059_2019_1659_MOESM1_ESM.xlsx, sheet 7
View BVdb publication page



A novel tankyrase inhibitor, MSC2504877, enhances the effects of clinical CDK4/6 inhibitors.

Scientific Reports
Menon, Malini M; Elliott, Richard R; Bowers, Leandra L; Balan, Nicolae N; Rafiq, Rumana R; Costa-Cabral, Sara S; Munkonge, Felix F; Trinidade, Ines I; Porter, Roderick R; Campbell, Andrew D AD; Johnson, Emma R ER; Esdar, Christina C; Buchstaller, Hans-Peter HP; Leuthner, Birgitta B; Rohdich, Felix F; Schneider, Richard R; Sansom, Owen O; Wienke, Dirk D; Ashworth, Alan A; Lord, Christopher J CJ
Publication Date: 2019-01-17

Variant appearance in text: APC: Q1338*
PubMed Link: 30655555
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_36447.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: Q1338*
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: Q1338X
PubMed Link: 30202008
Variant Present in the following documents:
  • 41467_2018_6132_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



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: 4012C>T; Q1338*
PubMed Link: 30166531
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community-based series.

The Lancet. Gastroenterology & Hepatology
Domingo, Enric E; Camps, Carme C; Kaisaki, Pamela J PJ; Parsons, Marie J MJ; Mouradov, Dmitri D; Pentony, Melissa M MM; Makino, Seiko S; Palmieri, Michelle M; Ward, Robyn L RL; Hawkins, Nicholas J NJ; Gibbs, Peter P; Askautrud, Hanne H; Oukrif, Dahmane D; Wang, Haitao H; Wood, Joe J; Tomlinson, Evie E; Bark, Yasmine Y; Kaur, Kulvinder K; Johnstone, Elaine C EC; Palles, Claire C; Church, David N DN; Novelli, Marco M; Danielsen, Havard E HE; Sherlock, Jon J; Kerr, David D; Kerr, Rachel R; Sieber, Oliver O; Taylor, Jenny C JC; Tomlinson, Ian I
Publication Date: 2018-09

Variant appearance in text: APC: Q1338X
PubMed Link: 30042065
Variant Present in the following documents:
  • mmc1.pdf
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: 4012C>T; Q1338*
PubMed Link: 29755662
Variant Present in the following documents:
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: 4012C>T; Q1338*
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s022.xlsx, sheet 1
View BVdb publication page



Development of a personalized therapeutic strategy for ERBB-gene-mutated cancers.

Therapeutic Advances In Medical Oncology
Milewska, Malgorzata M; Cremona, Mattia M; Morgan, Clare C; O'Shea, John J; Carr, Aoife A; Vellanki, Sri H SH; Hopkins, Ann M AM; Toomey, Sinead S; Madden, Stephen F SF; Hennessy, Bryan T BT; Eustace, Alex J AJ
Publication Date: 2018

Variant appearance in text: APC: Q1338*
PubMed Link: 29383036
Variant Present in the following documents:
  • 10.1177_1758834017746040.pdf
View BVdb publication page



Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget
Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-11-21

Variant appearance in text: APC: Q1338X; rs121913327
PubMed Link: 29245953
Variant Present in the following documents:
  • oncotarget-08-99966-s003.xlsx, sheet 3
View BVdb publication page



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

Molecular Cancer Research : Mcr
Drew, David A DA; Mo, Allen A; Grady, James J JJ; Stevens, Richard G RG; Levine, Joel B JB; Brenner, Bruce M BM; Anderson, Joseph C JC; Forouhar, Faripour F; O'Brien, Michael J MJ; Devers, Thomas J TJ; Rosenberg, Daniel W DW
Publication Date: 2018-03

Variant appearance in text: APC: Q1338*
PubMed Link: 29222172
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analytic validation and real-time clinical application of an amplicon-based targeted gene panel for advanced cancer.

Oncotarget
Wing, Michele R MR; Reeser, Julie W JW; Smith, Amy M AM; Reeder, Matthew M; Martin, Dorrelyn D; Jewell, Benjamin M BM; Datta, Jharna J; Miya, Jharna J; Monk, J Paul JP; Mortazavi, Amir A; Otterson, Gregory A GA; Goldberg, Richard M RM; VanDeusen, Jeffrey B JB; Cole, Sharon S; Dittmar, Kristin K; Jaiswal, Sunny S; Kinzie, Matthew M; Waikhom, Suraj S; Freud, Aharon G AG; Zhou, Xiao-Ping XP; Chen, Wei W; Bhatt, Darshna D; Roychowdhury, Sameek S
Publication Date: 2017-09-29

Variant appearance in text: APC: 4012C>T; Gln1338Ter
PubMed Link: 29100271
Variant Present in the following documents:
  • oncotarget-08-75822-s008.xlsx, sheet 1
View BVdb publication page



Upregulation of Cystathionine-β-Synthase in Colonic Epithelia Reprograms Metabolism and Promotes Carcinogenesis.

Cancer Research
Phillips, Ches'Nique M CM; Zatarain, John R JR; Nicholls, Michael E ME; Porter, Craig C; Widen, Steve G SG; Thanki, Ketan K; Johnson, Paul P; Jawad, Muhammad U MU; Moyer, Mary P MP; Randall, James W JW; Hellmich, Judith L JL; Maskey, Manjit M; Qiu, Suimin S; Wood, Thomas G TG; Druzhyna, Nadiya N; Szczesny, Bartosz B; Módis, Katalin K; Szabo, Csaba C; Chao, Celia C; Hellmich, Mark R MR
Publication Date: 2017-11-01

Variant appearance in text: APC: Q1338*
PubMed Link: 28923859
Variant Present in the following documents:
  • Main text
View BVdb publication page



A system for detecting high impact-low frequency mutations in primary tumors and metastases.

Oncogene
Anjanappa, M M; Hao, Y Y; Simpson, E R ER; Bhat-Nakshatri, P P; Nelson, J B JB; Tersey, S A SA; Mirmira, R G RG; Cohen-Gadol, A A AA; Saadatzadeh, M R MR; Li, L L; Fang, F F; Nephew, K P KP; Miller, K D KD; Liu, Y Y; Nakshatri, H H
Publication Date: 2018-01-11

Variant appearance in text: APC: Q1338*
PubMed Link: 28892047
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.

Molecular Cancer
Berg, Kaja C G KCG; Eide, Peter W PW; Eilertsen, Ina A IA; Johannessen, Bjarne B; Bruun, Jarle J; Danielsen, Stine A SA; Bjørnslett, Merete M; Meza-Zepeda, Leonardo A LA; Eknæs, Mette M; Lind, Guro E GE; Myklebost, Ola O; Skotheim, Rolf I RI; Sveen, Anita A; Lothe, Ragnhild A RA
Publication Date: 2017-07-06

Variant appearance in text: rs121913327
PubMed Link: 28683746
Variant Present in the following documents:
  • 12943_2017_691_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Single-cell DNA sequencing reveals a late-dissemination model in metastatic colorectal cancer.

Genome Research
Leung, Marco L ML; Davis, Alexander A; Gao, Ruli R; Casasent, Anna A; Wang, Yong Y; Sei, Emi E; Vilar, Eduardo E; Maru, Dipen D; Kopetz, Scott S; Navin, Nicholas E NE
Publication Date: 2017-08

Variant appearance in text: APC: 4012C>T; Gln1338Ter
PubMed Link: 28546418
Variant Present in the following documents:
  • Main text
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: Q1338*
PubMed Link: 28533537
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_2319.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: Q1338X; rs121913327
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page



Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Hereditary Cancer In Clinical Practice
Cruz-Correa, Marcia M; Pérez-Mayoral, Julyann J; Dutil, Julie J; Echenique, Miguel M; Mosquera, Rafael R; Rivera-Román, Keila K; Umpierre, Sharee S; Rodriguez-Quilichini, Segundo S; Gonzalez-Pons, Maria M; Olivera, Myrta I MI; Pardo, Sherly S; ,
Publication Date: 2017

Variant appearance in text: APC: 4012C>T; Gln1338*
PubMed Link: 28127413
Variant Present in the following documents:
  • 13053_2017_Article_63.pdf
View BVdb publication page