Publications:

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De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case report and literature review.

World Journal Of Surgical Oncology

Xu, Miaorong M; Zheng, Yuyan Y; Zuo, Zhongchao Z; Zhou, Qin Q; Deng, Qun Q; Wang, Jianwei J; Wang, Da D

Publication Date: 2023-03-02

Variant appearance in text: APC: Thr1493Thr

PubMed Link: 36864485

Variant Present in the following documents:

• Main text
• 12957_2023_Article_2951.pdf

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Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors.

Cancer Research And Treatment

Kim, Moonsik M; Lee, Changseon C; Hong, Juyeon J; Kim, Juhee J; Jeong, Ji Yun JY; Park, Nora Jee-Young NJ; Kim, Ji-Eun JE; Park, Ji Young JY

Publication Date: 2022-11-25

Variant appearance in text: APC: T1493T

PubMed Link: 36470260

Variant Present in the following documents:

• crt-2022-891-Supplementary-Table-4.pdf

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Decellularized extracellular matrix as scaffold for cancer organoid cultures of colorectal peritoneal metastases.

Journal Of Molecular Cell Biology

Varinelli, Luca L; Guaglio, Marcello M; Brich, Silvia S; Zanutto, Susanna S; Belfiore, Antonino A; Zanardi, Federica F; Iannelli, Fabio F; Oldani, Amanda A; Costa, Elisa E; Chighizola, Matteo M; Lorenc, Ewelina E; Minardi, Simone P SP; Fortuzzi, Stefano S; Filugelli, Martina M; Garzone, Giovanna G; Pisati, Federica F; Vecchi, Manuela M; Pruneri, Giancarlo G; Kusamura, Shigeki S; Baratti, Dario D; Cattaneo, Laura L; Parazzoli, Dario D; Podestà, Alessandro A; Milione, Massimo M; Deraco, Marcello M; Pierotti, Marco A MA; Gariboldi, Manuela M

Publication Date: 2022-12-02

Variant appearance in text: APC: T1493T

PubMed Link: 36460033

Variant Present in the following documents:

• mjac064_supplemental_file.pdf

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A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences

Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT

Publication Date: 2022

Variant appearance in text: APC: T1493T

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 10

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Mutational landscape of gastric adenocarcinoma in Latin America: A genetic approach for precision medicine.

Genes & Diseases

Cerrato-Izaguirre, Dennis D; Chirino, Yolanda I YI; García-Cuellar, Claudia M CM; Santibáñez-Andrade, Miguel M; Prada, Diddier D; Hernández-Guerrero, Angélica A; Larraga, Octavio Alonso OA; Camacho, Javier J; Sánchez-Pérez, Yesennia Y

Publication Date: 2022-07

Variant appearance in text: APC: T1493T

PubMed Link: 35685475

Variant Present in the following documents:

• Main text
• main.pdf

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Calibration-free NGS quantitation of mutations below 0.01% VAF.

Nature Communications

Dai, Peng P; Wu, Lucia Ruojia LR; Chen, Sherry Xi SX; Wang, Michael Xiangjiang MX; Cheng, Lauren Yuxuan LY; Zhang, Jinny Xuemeng JX; Hao, Pengying P; Yao, Weijie W; Zarka, Jabra J; Issa, Ghayas C GC; Kwong, Lawrence L; Zhang, David Yu DY

Publication Date: 2021-10-21

Variant appearance in text: APC: T1493=

PubMed Link: 34675197

Variant Present in the following documents:

• 41467_2021_Article_26308.pdf

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Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Biomed Research International

Rosenthal, Sun Hee SH; Sun, Weimin W; Zhang, Ke K; Liu, Yan Y; Nguyen, Quoclinh Q; Gerasimova, Anna A; Nery, Camille C; Cheng, Linda L; Castonguay, Carolyn C; Hiller, Elaine E; Li, James J; Elzinga, Christopher C; Wolfson, David D; Smolgovsky, Alla A; Chen, Rebecca R; Buller-Burckle, Arlene A; Catanese, Joseph J; Grupe, Andrew A; Lacbawan, Felicitas F; Owen, Renius R

Publication Date: 2020

Variant appearance in text: APC: Thr1493Thr

PubMed Link: 32090079

Variant Present in the following documents:

• Main text
• BMRI2020-3289023.pdf

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Inter-laboratory proficiency testing scheme for tumour next-generation sequencing in Ontario: a pilot study.

Current Oncology (Toronto, Ont.)

Spence, T T; Stickle, N N; Yu, C C; Chow, H H; Feilotter, H H; Lo, B B; McCready, E E; Sadikovic, B B; Siu, L L LL; Bedard, P L PL; Stockley, T L TL

Publication Date: 2019-12

Variant appearance in text: APC: T1493T

PubMed Link: 31896942

Variant Present in the following documents:

• Main text

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Genetic and transcriptional evolution alters cancer cell line drug response.

Nature

Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR

Publication Date: 2018-08

Variant appearance in text: APC: T1493T

PubMed Link: 30089904

Variant Present in the following documents:

• NIHMS977514-supplement-Sup_Table_17.xlsx, sheet 1
• NIHMS977514-supplement-Sup_Table_5.xlsx, sheet 1
• NIHMS977514-supplement-Sup_Table_10.xlsx, sheet 1
• NIHMS977514-supplement-Sup_Table_23.xlsx, sheet 1

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Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One

Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z

Publication Date: 2018

Variant appearance in text: APC: T1493T

PubMed Link: 29649263

Variant Present in the following documents:

• pone.0195761.s004.xlsx, sheet 1
• pone.0195761.s005.xlsx, sheet 1
• pone.0195761.s003.xlsx, sheet 1

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: APC: Thr1493=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: APC: T1493T

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

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Inherited Variants in Wnt Pathway Genes Influence Outcomes of Prostate Cancer Patients Receiving Androgen Deprivation Therapy.

International Journal Of Molecular Sciences

Geng, Jiun-Hung JH; Lin, Victor C VC; Yu, Chia-Cheng CC; Huang, Chao-Yuan CY; Yin, Hsin-Ling HL; Chang, Ta-Yuan TY; Lu, Te-Ling TL; Huang, Shu-Pin SP; Bao, Bo-Ying BY

Publication Date: 2016-11-26

Variant appearance in text: APC: Thr1493Thr

PubMed Link: 27898031

Variant Present in the following documents:

• Main text
• ijms-17-01970.pdf

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Novel biomarkers of resistance of pancreatic cancer cells to oncolytic vesicular stomatitis virus.

Oncotarget

Hastie, Eric E; Cataldi, Marcela M; Moerdyk-Schauwecker, Megan J MJ; Felt, Sébastien A SA; Steuerwald, Nury N; Grdzelishvili, Valery Z VZ

Publication Date: 2016-09-20

Variant appearance in text: APC: T1493T

PubMed Link: 27533247

Variant Present in the following documents:

• Main text
• oncotarget-07-61601.pdf

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Investigating polymorphisms by bioinformatics is a potential cost-effective method to screen for germline mutations in Chinese familial adenomatous polyposis patients.

Oncology Letters

Yang, Jun J; Liu, Wei Qing WQ; Li, Wen Liang WL; Chen, Cheng C; Zhu, Zhu Z; Hong, Min M; Wang, Zhi Qiang ZQ; Dong, Jian J

Publication Date: 2016-07

Variant appearance in text: APC: T1493T

PubMed Link: 27347161

Variant Present in the following documents:

• Main text

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Aberrant DNA methylation of WNT pathway genes in the development and progression of CIMP-negative colorectal cancer.

Epigenetics

Galamb, Orsolya O; Kalmár, Alexandra A; Péterfia, Bálint B; Csabai, István I; Bodor, András A; Ribli, Dezső D; Krenács, Tibor T; Patai, Árpád V ÁV; Wichmann, Barnabás B; Barták, Barbara Kinga BK; Tóth, Kinga K; Valcz, Gábor G; Spisák, Sándor S; Tulassay, Zsolt Z; Molnár, Béla B

Publication Date: 2016-08-02

Variant appearance in text: APC: T1493T

PubMed Link: 27245242

Variant Present in the following documents:

• Main text

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Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis.

Scientific Reports

Yamaguchi, Kiyoshi K; Nagayama, Satoshi S; Shimizu, Eigo E; Komura, Mitsuhiro M; Yamaguchi, Rui R; Shibuya, Tetsuo T; Arai, Masami M; Hatakeyama, Seira S; Ikenoue, Tsuneo T; Ueno, Masashi M; Miyano, Satoru S; Imoto, Seiya S; Furukawa, Yoichi Y

Publication Date: 2016-05-24

Variant appearance in text: APC: T1493T

PubMed Link: 27217144

Variant Present in the following documents:

• Main text

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A novel APC mosaicism in a patient with familial adenomatous polyposis.

Human Genome Variation

Iwaizumi, Moriya M; Tao, Hong H; Yamaguchi, Kiyoshi K; Yamada, Hidetaka H; Shinmura, Kazuya K; Kahyo, Tomoaki T; Yamanaka, Yoshiyuki Y; Kurachi, Kiyotaka K; Sugimoto, Ken K; Furukawa, Yoichi Y; Sugimura, Haruhiko H

Publication Date: 2015

Variant appearance in text: APC: T1493T

PubMed Link: 27081559

Variant Present in the following documents:

• Main text

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Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation.

Human Genome Variation

Ikenoue, Tsuneo T; Yamaguchi, Kiyoshi K; Komura, Mitsuhiro M; Imoto, Seiya S; Yamaguchi, Rui R; Shimizu, Eigo E; Kasuya, Shinichi S; Shibuya, Tetsuo T; Hatakeyama, Seira S; Miyano, Satoru S; Furukawa, Yoichi Y

Publication Date: 2015

Variant appearance in text: APC: T1493T

PubMed Link: 27081525

Variant Present in the following documents:

• Main text

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Analysing the mutational status of adenomatous polyposis coli (APC) gene in breast cancer.

Cancer Cell International

Chang, Ya-Sian YS; Lin, Chien-Yu CY; Yang, Shu-Fen SF; Ho, Cheng-Mao CM; Chang, Jan-Gowth JG

Publication Date: 2016

Variant appearance in text: APC: T1493T

PubMed Link: 27028212

Variant Present in the following documents:

• Main text

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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: T1493T

PubMed Link: 26296973

Variant Present in the following documents:

• oncotarget-06-25619-s004.xlsx, sheet 1

View BVdb publication page

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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics

Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP

Publication Date: 2015-06-20

Variant appearance in text: APC: T1493T

PubMed Link: 26092435

Variant Present in the following documents:

• 40246_2015_34_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: APC: T1493T

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Mutational profiling of familial male breast cancers reveals similarities with luminal A female breast cancer with rare TP53 mutations.

British Journal Of Cancer

Deb, S S; Wong, S Q SQ; Li, J J; Do, H H; Weiss, J J; Byrne, D D; Chakrabarti, A A; Bosma, T T; , ; Fellowes, A A; Dobrovic, A A; Fox, S B SB

Publication Date: 2014-12-09

Variant appearance in text: APC: T1493T

PubMed Link: 25490678

Variant Present in the following documents:

• Main text

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Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Nature Communications

Carmi, Shai S; Hui, Ken Y KY; Kochav, Ethan E; Liu, Xinmin X; Xue, James J; Grady, Fillan F; Guha, Saurav S; Upadhyay, Kinnari K; Ben-Avraham, Dan D; Mukherjee, Semanti S; Bowen, B Monica BM; Thomas, Tinu T; Vijai, Joseph J; Cruts, Marc M; Froyen, Guy G; Lambrechts, Diether D; Plaisance, Stéphane S; Van Broeckhoven, Christine C; Van Damme, Philip P; Van Marck, Herwig H; Barzilai, Nir N; Darvasi, Ariel A; Offit, Kenneth K; Bressman, Susan S; Ozelius, Laurie J LJ; Peter, Inga I; Cho, Judy H JH; Ostrer, Harry H; Atzmon, Gil G; Clark, Lorraine N LN; Lencz, Todd T; Pe'er, Itsik I

Publication Date: 2014-09-09

Variant appearance in text: APC: T1493T

PubMed Link: 25203624

Variant Present in the following documents:

• ncomms5835-s5.xlsx, sheet 4

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A unique profile of adenomatous polyposis coli gene mutations in Iranian patients suffering sporadic colorectal cancer.

Cell Journal

Hasanpour, Mojtaba M; Galehdari, Hamid H; Masjedizadeh, Abdolrahim A; Ajami, Naser N

Publication Date: 2014-02-03

Variant appearance in text: APC: Thr1493Thr

PubMed Link: 24518971

Variant Present in the following documents:

• Main text
• Cell-J-16-17.pdf

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Increased variance in germline allele-specific expression of APC associates with colorectal cancer.

Gastroenterology

Curia, Maria Cristina MC; De Iure, Sabrina S; De Lellis, Laura L; Veschi, Serena S; Mammarella, Sandra S; White, Marquitta J MJ; Bartlett, Jacquelaine J; Di Iorio, Angelo A; Amatetti, Cristina C; Lombardo, Marco M; Di Gregorio, Patrizia P; Battista, Pasquale P; Mariani-Costantini, Renato R; Williams, Scott M SM; Cama, Alessandro A

Publication Date: 2012-01

Variant appearance in text: APC: Thr1493Thr

PubMed Link: 21995949

Variant Present in the following documents:

• Main text

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Repeated anastomotic recurrence of colorectal tumors: genetic analysis of two cases.

World Journal Of Gastroenterology

Costi, Renato R; Azzoni, Cinzia C; Marchesi, Federico F; Bottarelli, Lorena L; Violi, Vincenzo V; Bordi, Cesare C

Publication Date: 2011-08-28

Variant appearance in text: APC: T1493T

PubMed Link: 21990958

Variant Present in the following documents:

• Main text

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Polymorphisms in the adenomatous polyposis coli (APC) gene and advanced colorectal adenoma risk.

European Journal Of Cancer (Oxford, England : 1990)

Wong, Hui-Lee HL; Peters, Ulrike U; Hayes, Richard B RB; Huang, Wen-Yi WY; Schatzkin, Arthur A; Bresalier, Robert S RS; Velie, Ellen M EM; Brody, Lawrence C LC

Publication Date: 2010-09

Variant appearance in text: APC: T1493T

PubMed Link: 20510605

Variant Present in the following documents:

• Main text

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Hereditary and familial colon cancer.

Gastroenterology

Jasperson, Kory W KW; Tuohy, Thérèse M TM; Neklason, Deborah W DW; Burt, Randall W RW

Publication Date: 2010-06

Variant appearance in text: APC: T1493T

PubMed Link: 20420945

Variant Present in the following documents:

• Main text

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Duodenal carcinoma in MUTYH-associated polyposis.

Journal Of Clinical Pathology

Nielsen, M M; Poley, J W JW; Verhoef, S S; van Puijenbroek, M M; Weiss, M M MM; Burger, G T GT; Dommering, C J CJ; Vasen, H F A HF; Kuipers, E J EJ; Wagner, A A; Morreau, H H; Hes, F J FJ

Publication Date: 2006-11

Variant appearance in text: APC: T1493T

PubMed Link: 16943222

Variant Present in the following documents:

• Main text

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