APC c.3924dup ;(p.E1309Rfs*6)

Variant ID: 5-112175211-T-TA

NM_000038.5(APC):c.3924dup;(p.E1309Rfs*6)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


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: 3921dupA
PubMed Link: 35550340
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.

Cancer Biology & Medicine
Yao, Jianfei J; Zhen, Yunhuan Y; Fan, Jing J; Gong, Yuan Y; Ye, Yumeng Y; Guo, Shaohua S; Liu, Hongyi H; Li, Xiaoyun X; Li, Guosheng G; Yang, Pan P; Wang, Xiaohui X; Liu, Danni D; Huang, Tanxiao T; Cao, Huiya H; Suo, Peisu P; Li, Yuemin Y; Yu, Jingbo J; Song, Lele L
Publication Date: 2022-01-12

Variant appearance in text: APC: 3921dupA
PubMed Link: 35014770
Variant Present in the following documents:
  • Main text
  • cbm-19-707.pdf
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: 3924dupA; Glu1309fs
PubMed Link: 34381078
Variant Present in the following documents:
  • 41598_2021_95345_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: APC: 3923_3924insA
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
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: 3923_3924insA
PubMed Link: 31745186
Variant Present in the following documents:
  • 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: N/A
PubMed Link: 31744909
Variant Present in the following documents:
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: Glu1309fs
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
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: E1309Rfs*6
PubMed Link: 30925167
Variant Present in the following documents:
  • pgen.1008076.s007.xlsx, sheet 1
View BVdb publication page



Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Bmc Urology
Kim, Young Saing YS; Kim, Kyung K; Kwon, Ghee-Young GY; Lee, Su Jin SJ; Park, Se Hoon SH
Publication Date: 2018-07-31

Variant appearance in text: APC: 3923_3924insA
PubMed Link: 30064409
Variant Present in the following documents:
  • 12894_2018_380_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Feasibility study of cancer genome alterations identified by next generation sequencing: ABC study.

Japanese Journal Of Clinical Oncology
Naito, Yoichi Y; Takahashi, Hideaki H; Shitara, Kohei K; Okamoto, Wataru W; Bando, Hideaki H; Kuwata, Takeshi T; Kuboki, Yasutoshi Y; Matsumoto, Shingo S; Miki, Izumi I; Yamanaka, Takeharu T; Watanabe, Atsushi A; Kojima, Motohiro M
Publication Date: 2018-06-01

Variant appearance in text: APC: 3923_3924insA
PubMed Link: 29659903
Variant Present in the following documents:
  • hyy052supplementaltable1ionver1.xls, sheet 1
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: APC: E1309fs
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Translational Oncology
Lee, Ji Yun JY; Kim, Kyung K; Sung, Hyun Hwan HH; Jeon, Hwang Gyun HG; Jeong, Byong Chang BC; Seo, Seong Il SI; Jeon, Seong Soo SS; Lee, Hyun Moo HM; Choi, Han-Yong HY; Kwon, Ghee-Young GY; Kim, Kyoung-Mee KM; Lee, Jeeyun J; Lim, Ho Yeong HY; Park, Se Hoon SH
Publication Date: 2018-02

Variant appearance in text: APC: 3923_3924insA
PubMed Link: 29161613
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



StrandAdvantage test for early-line and advanced-stage treatment decisions in solid tumors.

Cancer Medicine
Sen, Manimala M; Katragadda, Shanmukh S; Ravichandran, Aarthi A; Deshpande, Gouri G; Parulekar, Minothi M; Nayanala, Swetha S; Vittal, Vikram V; Shen, Weiming W; Phooi Nee Yong, Melanie M; Jacob, Jemima J; Parchuru, Sravanthi S; Dhanuskodi, Kalpana K; Eyring, Kenneth K; Agrawal, Pooja P; Agarwal, Smita S; Shanmugam, Ashwini A; Gupta, Satish S; Vishwanath, Divya D; Kumari, Kiran K; Hariharan, Arun K AK; Balaji, Sai A SA; Liang, Qiaoling Q; Robolledo, Belen B; Gauribidanur Raghavendrachar, Vijayashree V; Oomer Farooque, Mohammed M; Buresh, Cary J CJ; Ramamoorthy, Preveen P; Bahadur, Urvashi U; Subramanian, Kalyanasundaram K; Hariharan, Ramesh R; Veeramachaneni, Vamsi V; Sankaran, Satish S; Gupta, Vaijayanti V
Publication Date: 2017-05

Variant appearance in text: APC: Glu1309fs
PubMed Link: 28371134
Variant Present in the following documents:
  • CAM4-6-883-s002.xlsx, sheet 5
  • CAM4-6-883-s002.xlsx, sheet 21
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: 3920_3921insA
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: APC: 3924dupA
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s2.xlsx, sheet 6
View BVdb publication page



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: N/A
PubMed Link: 27149842
Variant Present in the following documents:
View BVdb publication page



Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Oncotarget
Lee, Ji Yun JY; Park, Kyunghee K; Lim, Sung Hee SH; Kim, Hae Su HS; Yoo, Kwai Han KH; Jung, Ki Sun KS; Song, Haa-Na HN; Hong, Mineui M; Do, In-Gu IG; Ahn, TaeJin T; Lee, Se Kyung SK; Bae, Soo Youn SY; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Jung, Hae Hyun HH; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-12-22

Variant appearance in text: APC: 3923_3924insA
PubMed Link: 26527317
Variant Present in the following documents:
  • oncotarget-06-43731-s002.xlsx, sheet 1
View BVdb publication page



Patient-derived cell models as preclinical tools for genome-directed targeted therapy.

Oncotarget
Lee, Ji Yun JY; Kim, Sun Young SY; Park, Charny C; Kim, Nayoung K D NK; Jang, Jiryeon J; Park, Kyunghee K; Yi, Jun Ho JH; Hong, Mineui M; Ahn, Taejin T; Rath, Oliver O; Schueler, Julia J; Kim, Seung Tae ST; Do, In-Gu IG; Lee, Sujin S; Park, Se Hoon SH; Ji, Yong Ick YI; Kim, Dukwhan D; Park, Joon Oh JO; Park, Young Suk YS; Kang, Won Ki WK; Kim, Kyoung-Mee KM; Park, Woong-Yang WY; Lim, Ho Yeong HY; Lee, Jeeyun J
Publication Date: 2015-09-22

Variant appearance in text: APC: 3923_3924insA
PubMed Link: 26296973
Variant Present in the following documents:
  • oncotarget-06-25619-s003.xls, sheet 1
View BVdb publication page



Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Oncotarget
Park, Kyunghee K; Choi, Moon Ki MK; Jung, Hae Hyun HH; Do, In-Gu IG; Lee, Kwang Hee KH; Ahn, TaeJin T; Kil, Won Ho WH; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-09-15

Variant appearance in text: APC: 3923_3924insA
PubMed Link: 26009992
Variant Present in the following documents:
  • oncotarget-06-24499-s002.xlsx, sheet 1
View BVdb publication page



High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.

Plos One
Kim, Seokhwi S; Lee, Jeeyun J; Hong, Min Eui ME; Do, In-Gu IG; Kang, So Young SY; Ha, Sang Yun SY; Kim, Seung Tae ST; Park, Se Hoon SH; Kang, Won Ki WK; Choi, Min-Gew MG; Lee, Jun Ho JH; Sohn, Tae Sung TS; Bae, Jae Moon JM; Kim, Sung S; Kim, Duk-Hwan DH; Kim, Kyoung-Mee KM
Publication Date: 2014

Variant appearance in text: APC: 3923_3924insA
PubMed Link: 25372287
Variant Present in the following documents:
  • pone.0111693.s003.xls, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: N/A
PubMed Link: 25326804
Variant Present in the following documents:
View BVdb publication page



Colorectal tumors from APC*I1307K carriers principally harbor somatic APC mutations outside the A8 tract.

Plos One
Zauber, Peter P; Bishop, Timothy T; Taylor, Claire C; Sabbath-Solitare, Marlene M; Marotta, Stephen S; Tomlinson, Ian I
Publication Date: 2014

Variant appearance in text: APC: 3924_3925insA
PubMed Link: 24416237
Variant Present in the following documents:
  • Main text
  • pone.0084498.pdf
View BVdb publication page