Publications:

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

Current Issues In Molecular Biology

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

Publication Date: 2023-05-16

Variant appearance in text: APC: 3927_3931delAAAGA; Glu1309Aspfs*4

PubMed Link: 37232746

Variant Present in the following documents:

• cimb-45-00277.pdf

View BVdb publication page

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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: 3927_3931del; Glu1309fs

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1
• crc-22-0136-s01.xlsx, sheet 3

View BVdb publication page

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Ultrasensitive tumour-agnostic non-invasive detection of colorectal cancer recurrence using ctDNA methylation.

Clinical And Translational Medicine

Xiao, Yu Y; Wang, Xiaodong X; Weng, Hong H; Ding, Zhao Z; Qian, Kaiyu K; Jin, Wan W; Lu, Sen S; Ju, Lingao L; He, Zhiwen Z; Wang, Gang G; Xie, Xiaoyu X; Liu, Dongmei D; Fan, Zhou Z; Wu, Kai K; Li, Sheng S; Guo, Huanhuan H; Qian, Guofeng G; Jiang, Wei W; Leng, Yunji Y; Zhao, Junpeng J; Cao, Xinyue X; Peng, Minsheng M; Jiang, Congqing C; Li, Li L; Zhang, Yi Y; Wang, Xinghuan X

Publication Date: 2022-09

Variant appearance in text: APC: 3921_3925del; E1309Dfs*4

PubMed Link: 36103400

Variant Present in the following documents:

• CTM2-12-e1015-s002.xlsx, sheet 1

View BVdb publication page

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Reply to Serrano et al. Comment on "Colletti et al. Prevalence and Management of Cancer of the Rectal Stump after Total Colectomy and Rectal Sparing in Patients with Familial Polyposis: Results from a Registry-Based Study. Cancers 2022, 14, 298".

Cancers

Colletti, Gaia G; Ciniselli, Chiara Maura CM; Rausa, Emanuele E; Signoroni, Stefano S; Cocco, Ivana Maria Francesca IMF; Magarotto, Andrea A; Ricci, Maria Teresa MT; Brignola, Clorinda C; Mancini, Andrea A; Cavalcoli, Federica F; Cattaneo, Laura L; Milione, Massimo M; Verderio, Paolo P; Vitellaro, Marco M

Publication Date: 2022-07-01

Variant appearance in text: APC: 3927_3931delAAAGA; Glu1309Aspfs*4

PubMed Link: 35805013

Variant Present in the following documents:

• cancers-14-03241.pdf

View BVdb publication page

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Somatic targeted mutation profiling of colorectal cancer precursor lesions.

Bmc Medical Genomics

Dos Santos, Wellington W; Dos Reis, Mariana Bisarro MB; Porto, Jun J; de Carvalho, Ana Carolina AC; Matsushita, Marcus M; Oliveira, Gabriela G; Syrjänen, Kari K; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP

Publication Date: 2022-06-28

Variant appearance in text: APC: 3927_3931delAAAGA; E1309Dfs*4

PubMed Link: 35761395

Variant Present in the following documents:

• 12920_2022_1294_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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A large family with MSH3-related polyposis.

Familial Cancer

Aelvoet, Arthur S AS; Hoekman, Daniël R DR; Redeker, Bert J W BJW; Weegenaar, Jitske J; Dekker, Evelien E; van Noesel, Carel J M CJM; Duijkers, Floor A M FAM

Publication Date: 2022-06-08

Variant appearance in text: APC: 3921_3925del; Glu1309Aspfs*4

PubMed Link: 35675019

Variant Present in the following documents:

• Main text
• 10689_2022_Article_297.pdf

View BVdb publication page

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Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

American Journal Of Human Genetics

Palles, Claire C; West, Hannah D HD; Chew, Edward E; Galavotti, Sara S; Flensburg, Christoffer C; Grolleman, Judith E JE; Jansen, Erik A M EAM; Curley, Helen H; Chegwidden, Laura L; Arbe-Barnes, Edward H EH; Lander, Nicola N; Truscott, Rebekah R; Pagan, Judith J; Bajel, Ashish A; Sherwood, Kitty K; Martin, Lynn L; Thomas, Huw H; Georgiou, Demetra D; Fostira, Florentia F; Goldberg, Yael Y; Adams, David J DJ; van der Biezen, Simone A M SAM; Christie, Michael M; Clendenning, Mark M; Thomas, Laura E LE; Deltas, Constantinos C; Dimovski, Aleksandar J AJ; Dymerska, Dagmara D; Lubinski, Jan J; Mahmood, Khalid K; van der Post, Rachel S RS; Sanders, Mathijs M; Weitz, Jürgen J; Taylor, Jenny C JC; Turnbull, Clare C; Vreede, Lilian L; van Wezel, Tom T; Whalley, Celina C; Arnedo-Pac, Claudia C; Caravagna, Giulio G; Cross, William W; Chubb, Daniel D; Frangou, Anna A; Gruber, Andreas J AJ; Kinnersley, Ben B; Noyvert, Boris B; Church, David D; Graham, Trevor T; Houlston, Richard R; Lopez-Bigas, Nuria N; Sottoriva, Andrea A; Wedge, David D; , ; , ; , ; Jenkins, Mark A MA; Kuiper, Roland P RP; Roberts, Andrew W AW; Cheadle, Jeremy P JP; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; Koelzer, Viktor H VH; Rivas, Andres Dacal AD; Winship, Ingrid M IM; Ponte, Clara Ruiz CR; Buchanan, Daniel D DD; Power, Derek G DG; Green, Andrew A; Tomlinson, Ian P M IPM; Sampson, Julian R JR; Majewski, Ian J IJ; de Voer, Richarda M RM

Publication Date: 2022-05-05

Variant appearance in text: APC: 3927_3931del

PubMed Link: 35460607

Variant Present in the following documents:

• mmc2.xlsx, sheet 2

View BVdb publication page

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Response prediction and risk stratification of patients with rectal cancer after neoadjuvant therapy through an analysis of circulating tumour DNA.

Ebiomedicine

Liu, Wenyang W; Li, Yifei Y; Tang, Yuan Y; Song, Qianqian Q; Wang, Jingjing J; Li, Ning N; Chen, Silin S; Shi, Jinming J; Wang, Shulian S; Li, Yexiong Y; Jiao, Yuchen Y; Zeng, Yixin Y; Jin, Jing J

Publication Date: 2022-04

Variant appearance in text: APC: 3927_3931delAAAGA

PubMed Link: 35306340

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Precision cancer genome testing needs proficiency testing involving all stakeholders.

Scientific Reports

Maekawa, Masato M; Taniguchi, Terumi T; Nishio, Kazuto K; Sakai, Kazuko K; Matsushita, Kazuyuki K; Nakatani, Kaname K; Ishige, Takayuki T; Ikejiri, Makoto M; Nishihara, Hiroshi H; Sunami, Kuniko K; Yatabe, Yasushi Y; Hatanaka, Kanako C KC; Hatanaka, Yutaka Y; Yamamoto, Yoshihiro Y; Fukuyama, Keita K; Oda, Shinya S; Saito, Kayoko K; Yokomura, Mamoru M; Kubo, Yuji Y; Sato, Hiroko H; Tanaka, Yoshinori Y; Fuchioka, Misa M; Yamasaki, Tadashi T; Matsuda, Koichiro K; Kurachi, Kiyotaka K; Funai, Kazuhiro K; Baba, Satoshi S; Iwaizumi, Moriya M

Publication Date: 2022-01-27

Variant appearance in text: APC: 3927_3931delAAAGA

PubMed Link: 35087199

Variant Present in the following documents:

• 41598_2022_5589_MOESM1_ESM.pdf

View BVdb publication page

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Precision cancer genome testing needs proficiency testing involving all stakeholders.

Scientific Reports

Maekawa, Masato M; Taniguchi, Terumi T; Nishio, Kazuto K; Sakai, Kazuko K; Matsushita, Kazuyuki K; Nakatani, Kaname K; Ishige, Takayuki T; Ikejiri, Makoto M; Nishihara, Hiroshi H; Sunami, Kuniko K; Yatabe, Yasushi Y; Hatanaka, Kanako C KC; Hatanaka, Yutaka Y; Yamamoto, Yoshihiro Y; Fukuyama, Keita K; Oda, Shinya S; Saito, Kayoko K; Yokomura, Mamoru M; Kubo, Yuji Y; Sato, Hiroko H; Tanaka, Yoshinori Y; Fuchioka, Misa M; Yamasaki, Tadashi T; Matsuda, Koichiro K; Kurachi, Kiyotaka K; Funai, Kazuhiro K; Baba, Satoshi S; Iwaizumi, Moriya M

Publication Date: 2022-01-27

Variant appearance in text: APC: 3927_3931delAAAGA

PubMed Link: 35087199

Variant Present in the following documents:

• 41598_2022_5589_MOESM1_ESM.pdf

View BVdb publication page

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Prevalence and spectrum of germline cancer susceptibility gene variants and somatic second hits in colorectal cancer.

American Journal Of Cancer Research

Liao, Haiyan H; Cai, Songhua S; Bai, Yuezong Y; Zhang, Bei B; Sheng, Yuling Y; Tong, Shuang S; Cai, Jinping J; Zhao, Feilong F; Zhao, Xiaochen X; Chen, Shiqing S; Zhang, Cheng C; Gao, Jing J

Publication Date: 2021

Variant appearance in text: APC: 3927_3931del

PubMed Link: 34873480

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

Plos One

Perne, Claudia C; Peters, Sophia S; Cartolano, Maria M; Horpaopan, Sukanya S; Grimm, Christina C; Altmüller, Janine J; Sommer, Anna K AK; Hillmer, Axel M AM; Thiele, Holger H; Odenthal, Margarete M; Möslein, Gabriela G; Adam, Ronja R; Sivalingam, Sugirthan S; Kirfel, Jutta J; Schweiger, Michal R MR; Peifer, Martin M; Spier, Isabel I; Aretz, Stefan S

Publication Date: 2021

Variant appearance in text: APC: 3921_3925delAAAAG

PubMed Link: 34843512

Variant Present in the following documents:

• Main text
• pone.0259185.s010.xlsx, sheet 1
• pone.0259185.s008.xlsx, sheet 1
• pone.0259185.pdf

View BVdb publication page

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Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

Plos One

Perne, Claudia C; Peters, Sophia S; Cartolano, Maria M; Horpaopan, Sukanya S; Grimm, Christina C; Altmüller, Janine J; Sommer, Anna K AK; Hillmer, Axel M AM; Thiele, Holger H; Odenthal, Margarete M; Möslein, Gabriela G; Adam, Ronja R; Sivalingam, Sugirthan S; Kirfel, Jutta J; Schweiger, Michal R MR; Peifer, Martin M; Spier, Isabel I; Aretz, Stefan S

Publication Date: 2021

Variant appearance in text: APC: 3921_3925delAAAAG

PubMed Link: 34843512

Variant Present in the following documents:

• Main text
• pone.0259185.s010.xlsx, sheet 1
• pone.0259185.s008.xlsx, sheet 1
• pone.0259185.pdf

View BVdb publication page

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

Cell Reports

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

Publication Date: 2021-11-16

Variant appearance in text: APC: 3927_3931delAAAGA; Glu1309fs

PubMed Link: 34788622

Variant Present in the following documents:

• NIHMS1757901-supplement-2.xlsx, sheet 3

View BVdb publication page

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Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: APC: 3927_3931del

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

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A novel xenonucleic acid-mediated molecular clamping technology for early colorectal cancer screening.

Plos One

Sun, Qing Q; Pastor, Larry L; Du, Jinwei J; Powell, Michael J MJ; Zhang, Aiguo A; Bodmer, Walter W; Wu, Jianzhong J; Zheng, Shu S; Sha, Michael Y MY

Publication Date: 2021

Variant appearance in text: APC: 3921_3925delAAAAG; E1309fs

PubMed Link: 34610014

Variant Present in the following documents:

• Main text
• pone.0244332.pdf

View BVdb publication page

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Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.

Scientific Reports

Lim, Yoojoo Y; Kim, Sheehyun S; Kang, Jun-Kyu JK; Kim, Hwang-Phill HP; Jang, Hoon H; Han, Hyojun H; Kim, Hyoki H; Kim, Min Jung MJ; Lee, Kyung-Hun KH; Ryoo, Seung-Bum SB; Park, Ji Won JW; Jeong, Seung-Yong SY; Park, Kyu Joo KJ; Kang, Gyeong Hoon GH; Han, Sae-Won SW; Kim, Tae-You TY

Publication Date: 2021-08-11

Variant appearance in text: APC: 3927_3931delAAAGA; Glu1309fs

PubMed Link: 34381078

Variant Present in the following documents:

• 41598_2021_95345_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets.

Nature Communications

van Riet, Job J; van de Werken, Harmen J G HJG; Cuppen, Edwin E; Eskens, Ferry A L M FALM; Tesselaar, Margot M; van Veenendaal, Linde M LM; Klümpen, Heinz-Josef HJ; Dercksen, Marcus W MW; Valk, Gerlof D GD; Lolkema, Martijn P MP; Sleijfer, Stefan S; Mostert, Bianca B

Publication Date: 2021-07-29

Variant appearance in text: APC: 3927_3931del

PubMed Link: 34326338

Variant Present in the following documents:

• 41467_2021_24812_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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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: 3921_3925delAAAAG; E1309fs*4

PubMed Link: 34315821

Variant Present in the following documents:

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

View BVdb publication page

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Sensitivity, specificity, and accuracy of a liquid biopsy approach utilizing molecular amplification pools.

Scientific Reports

Garcia, Jessica J; Kamps-Hughes, Nick N; Geiguer, Florence F; Couraud, Sébastien S; Sarver, Brice B; Payen, Léa L; Ionescu-Zanetti, Cristian C

Publication Date: 2021-05-24

Variant appearance in text: APC: 3921_3925delAAAAG; E1309fs*4

PubMed Link: 34031447

Variant Present in the following documents:

• 41598_2021_89592_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype.

Canadian Journal Of Gastroenterology & Hepatology

Xie, Li-Jun LJ; Ruan, Dan-Dan DD; Zhang, Jian-Hui JH; Li, Yi Y; Chen, Li L; Yan, Mao-Lin ML; Yu, Ming-Dian MD; Luo, Jie-Wei JW; Zhang, Hui-Zhen HZ

Publication Date: 2021

Variant appearance in text: APC: 3927_3931delAAAGA

PubMed Link: 33954154

Variant Present in the following documents:

• Main text

View BVdb publication page

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Case Report: Cetuximab in Combination With Chemotherapy for the Treatment of Multifocal Hepatic Metastases From Colorectal Cancer Guided by Genetic Tests.

Frontiers In Oncology

Qiu, Chunhui C; Xie, Sidong S; Cheng, Na N; Lin, Qu Q; Shen, Guanzhu G; Xiang, Zhanwang Z; Huang, Tanxiao T; Zhang, Xiaoni X; Duan, Jingxian J; Wei, Li L; Zheng, Zongheng Z

Publication Date: 2021

Variant appearance in text: APC: 3927_3931del

PubMed Link: 33889542

Variant Present in the following documents:

• Main text

View BVdb publication page

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Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia.

Leukemia

Lundgren, Sofie S; Keränen, Mikko A I MAI; Kankainen, Matti M; Huuhtanen, Jani J; Walldin, Gunilla G; Kerr, Cassandra M CM; Clemente, Michael M; Ebeling, Freja F; Rajala, Hanna H; Brück, Oscar O; Lähdesmäki, Harri H; Hannula, Sari S; Hannunen, Tiina T; Ellonen, Pekka P; Young, Neal S NS; Ogawa, Seishi S; Maciejewski, Jaroslaw P JP; Hellström-Lindberg, Eva E; Mustjoki, Satu S

Publication Date: 2021-05

Variant appearance in text: APC: E1309fs*4

PubMed Link: 33785863

Variant Present in the following documents:

• 41375_2021_1231_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).

Journal Of Clinical Laboratory Analysis

Ghadamyari, Faranak F; Heidari, Mohammad Mehdi MM; Zeinali, Sirous S; Khatami, Mehri M; Merat, Shahin S; Bagherian, Hamideh H; Rejali, Leili L; Ghasemi, Farzaneh F

Publication Date: 2021-05

Variant appearance in text: APC: 3927_3931delAAAGA; Glu1309AspfsX4

PubMed Link: 33769591

Variant Present in the following documents:

• Main text
• JCLA-35-e23768.pdf

View BVdb publication page

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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: 3927_3931del; E1309Dfs*4

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: 3922_3926delAAAGA

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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

Data In Brief

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

Publication Date: 2021-02

Variant appearance in text: APC: 3921_3925delAAAAG; Glu1309fs

PubMed Link: 33365374

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: N/A

PubMed Link: 33106165

Variant Present in the following documents:

View BVdb publication page

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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: 3921_3925delAAAAG

PubMed Link: 33083132

Variant Present in the following documents:

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

View BVdb publication page

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Evaluation of the RAS signaling network in response to MEK inhibition using organoids derived from a familial adenomatous polyposis patient.

Scientific Reports

Osumi, Hiroki H; Muroi, Atsushi A; Sakahara, Mizuho M; Kawachi, Hiroshi H; Okamoto, Takuya T; Natsume, Yasuko Y; Yamanaka, Hitomi H; Takano, Hiroshi H; Kusama, Daisuke D; Shinozaki, Eiji E; Ooki, Akira A; Yamaguchi, Kensei K; Ueno, Masashi M; Takeuchi, Kengo K; Noda, Tetsuo T; Nagayama, Satoshi S; Koshikawa, Naohiko N; Yao, Ryoji R

Publication Date: 2020-10-15

Variant appearance in text: APC: 3927_3931delAAAGA

PubMed Link: 33060766

Variant Present in the following documents:

• Main text
• 41598_2020_Article_74530.pdf
• 41598_2020_74530_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Acute Radiation Colitis after Preoperative Short-Course Radiotherapy for Rectal Cancer: A Morphological, Immunohistochemical and Genetic Study.

Cancers

Zanelli, Magda M; Ciarrocchi, Alessia A; De Petris, Giovanni G; Zizzo, Maurizio M; Costantini, Massimo M; Bisagni, Alessandra A; Torricelli, Federica F; Nicoli, Davide D; Ramundo, Dafne D; Ricci, Stefano S; Palicelli, Andrea A; Sanguedolce, Francesca F; Ascani, Stefano S; Castro Ruiz, Carolina C; Annessi, Valerio V; Zamponi, Raffaella R; Bortesi, Mara M; Martino, Veronica V; Marchetti, Marialisa M; De Marco, Loredana L

Publication Date: 2020-09-09

Variant appearance in text: N/A

PubMed Link: 32917028

Variant Present in the following documents:

View BVdb publication page

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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: N/A

PubMed Link: 32895052

Variant Present in the following documents:

View BVdb publication page

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Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.

Cancer Science

Hayashi, Hideyuki H; Tanishima, Shigeki S; Fujii, Kyoko K; Mori, Ryo R; Okada, Chihiro C; Yanagita, Emmy E; Shibata, Yuka Y; Matsuoka, Ryosuke R; Amano, Toraji T; Yamada, Takahiro T; Yabe, Ichiro I; Kinoshita, Ichiro I; Komatsu, Yoshito Y; Dosaka-Akita, Hirotoshi H; Nishihara, Hiroshi H

Publication Date: 2020-10

Variant appearance in text: APC: 3921_3925delAAAAG; E1309Dfs*4

PubMed Link: 32772458

Variant Present in the following documents:

• CAS-111-3926-s001.xlsx, sheet 5

View BVdb publication page

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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: 3921_3925del

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Evaluation of circulating tumor DNA as a biomarker in pancreatic cancer with liver metastasis.

Plos One

Uesato, Yasunori Y; Sasahira, Naoki N; Ozaka, Masato M; Sasaki, Takashi T; Takatsuki, Mitsuhisa M; Zembutsu, Hitoshi H

Publication Date: 2020

Variant appearance in text: N/A

PubMed Link: 32614932

Variant Present in the following documents:

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The clonal evolution of metastatic colorectal cancer.

Science Advances

Dang, Ha X HX; Krasnick, Bradley A BA; White, Brian S BS; Grossman, Julie G JG; Strand, Matthew S MS; Zhang, Jin J; Cabanski, Christopher R CR; Miller, Christopher A CA; Fulton, Robert S RS; Goedegebuure, S Peter SP; Fronick, Catrina C CC; Griffith, Malachi M; Larson, David E DE; Goetz, Brian D BD; Walker, Jason R JR; Hawkins, William G WG; Strasberg, Steven M SM; Linehan, David C DC; Lim, Kian H KH; Lockhart, A Craig AC; Mardis, Elaine R ER; Wilson, Richard K RK; Ley, Timothy J TJ; Maher, Christopher A CA; Fields, Ryan C RC

Publication Date: 2020-06

Variant appearance in text: N/A

PubMed Link: 32577507

Variant Present in the following documents:

View BVdb publication page

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

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

,

Publication Date: 2020-09

Variant appearance in text: APC: 3927_3931delAAAGA; Glu1309AspfsX4

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

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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: 3922_3926delAAAGA; E1309fs*4

PubMed Link: 32488137

Variant Present in the following documents:

• 41416_2020_924_MOESM1_ESM.pdf

View BVdb publication page

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Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in APC, BRAF, and KTM2D.

Thyroid : Official Journal Of The American Thyroid Association

Nieminen, Taina T TT; Walker, Christopher J CJ; Olkinuora, Alisa A; Genutis, Luke K LK; O'Malley, Margaret M; Wakely, Paul E PE; LaGuardia, Lisa L; Koskenvuo, Laura L; Arola, Johanna J; Lepistö, Anna H AH; Brock, Pamela P; Yilmaz, Ayse Selen AS; Eisfeld, Ann-Kathrin AK; Church, James M JM; Peltomäki, Päivi P; de la Chapelle, Albert A

Publication Date: 2020-03

Variant appearance in text: APC: 3927_3931delAAAGA; Glu1309Aspfs

PubMed Link: 32024448

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.

Balkan Journal Of Medical Genetics : Bjmg

Staninova-Stojovska, M M; Matevska-Geskovska, N N; Panovski, M M; Angelovska, B B; Mitrevski, N N; Ristevski, M M; Jovanovic, R R; Dimovski, A J AJ

Publication Date: 2019-12

Variant appearance in text: APC: 3927_3931del

PubMed Link: 31942411

Variant Present in the following documents:

• Main text
• bjmg-22-005.pdf

View BVdb publication page

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Clinicopathological and molecular characteristics of abdominal desmoid tumors in the Chinese population: A single-center report of 15 cases.

Oncology Letters

Wang, Jiongyuan J; Jia, Ning N; Lin, Qiaowei Q; Huang, Yuan Y; Li, Jinglei J; Jiang, Quan Q; Liu, Wenshuai W; Xu, Jing J; Hou, Yingyong Y; Liu, Ju J; Li, Ming M; Lu, Weiqi W; Zhou, Yuhong Y; Zhang, Yong Y; Tong, Hanxing H

Publication Date: 2019-12

Variant appearance in text: APC: 3927_3931delAAAGA

PubMed Link: 31807167

Variant Present in the following documents:

• Main text

View BVdb publication page

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Somatic mutation profiling and HER2 status in KRAS-positive Chinese colorectal cancer patients.

Scientific Reports

Dong, Zhouhuan Z; Kong, Linghong L; Wan, Zhiyi Z; Zhu, Fengwei F; Zhong, Mei M; Lv, Yali Y; Zhao, Po P; Shi, Huaiyin H

Publication Date: 2019-11-15

Variant appearance in text: APC: 3922_3926delAAAGA; E1309fs*4

PubMed Link: 31729406

Variant Present in the following documents:

• 41598_2019_53039_MOESM1_ESM.pdf

View BVdb publication page

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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: N/A

PubMed Link: 31681791

Variant Present in the following documents:

View BVdb publication page

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Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy.

Theranostics

Yang, Jie J; Lin, Yuan Y; Huang, Ying Y; Jin, Jing J; Zou, Shuangmei S; Zhang, Xiaolong X; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Zuo, Zhixiang Z; Zheng, Jian J; Li, Yexiong Y; Gao, Ge G; Wu, Chen C; Tan, Wen W; Lin, Dongxin D

Publication Date: 2019

Variant appearance in text: APC: 3921_3925del

PubMed Link: 31660073

Variant Present in the following documents:

• thnov09p6856s2.xlsx, sheet 7

View BVdb publication page

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Clinical significance of TP53 variants as possible secondary findings in tumor-only next-generation sequencing.

Journal Of Human Genetics

Yamamoto, Yoshihiro Y; Kanai, Masashi M; Kou, Tadayuki T; Sugiyama, Aiko A; Nakamura, Eijiro E; Miyake, Hidehiko H; Yamada, Takahiro T; Nishigaki, Masakazu M; Kondo, Tomohiro T; Murakami, Hiromi H; Torishima, Masako M; Matsumoto, Shigemi S; Kosugi, Shinji S; Muto, Manabu M

Publication Date: 2020-01

Variant appearance in text: APC: 3921_3925delAAAAG

PubMed Link: 31628423

Variant Present in the following documents:

• 10038_2019_681_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature.

Familial Cancer

Aydemirli, M D MD; van der Tuin, K K; Hes, F J FJ; van den Ouweland, A M W AMW; van Wezel, T T; Kapiteijn, E E; Morreau, H H

Publication Date: 2020-01

Variant appearance in text: APC: 3927_3931delAAAGA; Glu1309Aspfs*4

PubMed Link: 31598872

Variant Present in the following documents:

• Main text
• 10689_2019_Article_146.pdf

View BVdb publication page

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Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.

Gut

Kleeman, Sam O SO; Koelzer, Viktor H VH; Jones, Helen Js HJ; Vazquez, Ester Gil EG; Davis, Hayley H; East, James E JE; Arnold, Roland R; Koppens, Martijn Aj MA; Blake, Andrew A; Domingo, Enric E; Cunningham, Chris C; Beggs, Andrew D AD; Pestinger, Valerie V; Loughrey, Maurice B MB; Wang, Lai-Mun LM; Lannagan, Tamsin Rm TR; Woods, Susan L SL; Worthley, Daniel D; Consortium, S Cort SC; Tomlinson, Ian I; Dunne, Philip D PD; Maughan, Timothy T; Leedham, Simon J SJ

Publication Date: 2020-06

Variant appearance in text: APC: 3927_3931delAAAGA; Glu1309AspfsTer4

PubMed Link: 31563876

Variant Present in the following documents:

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

View BVdb publication page

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: APC: 3927_3931delAAAGA; Glu1309Aspfs

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s002.xlsx, sheet 1

View BVdb publication page

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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: N/A

PubMed Link: 31395942

Variant Present in the following documents:

View BVdb publication page

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Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.

Jnci Cancer Spectrum

Toh, Ming Ren MR; Chiang, Jian Bang JB; Chong, Siao Ting ST; Chan, Sock Hoai SH; Ishak, Nur Diana Binte NDB; Courtney, Eliza E; Lee, Wei Hao WH; Syed Abdillah Al, Syed Muhammad Fahmy Bin SMFB; Carson Allen, John J; Lim, Kiat Hon KH; Davila, Sonia S; Tan, Patrick P; Lim, Weng Khong WK; Tan, Iain Bee Huat IBH; Ngeow, Joanne J

Publication Date: 2018-10

Variant appearance in text: APC: 3921_3925del

PubMed Link: 31360874

Variant Present in the following documents:

• Main text
• pky054.pdf

View BVdb publication page

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RAS and BRAF mutations in cell-free DNA are predictive for outcome of cetuximab monotherapy in patients with tissue-tested RAS wild-type advanced colorectal cancer.

Molecular Oncology

van Helden, Erik J EJ; Angus, Lindsay L; Menke-van der Houven van Oordt, C Willemien CW; Heideman, Daniëlle A M DAM; Boon, Eline E; van Es, Suzanne C SC; Radema, Sandra A SA; van Herpen, Carla M L CML; de Groot, Derk Jan A DJA; de Vries, Elisabeth G E EGE; Jansen, Maurice P H M MPHM; Sleijfer, Stefan S; Verheul, Henk M W HMW

Publication Date: 2019-11

Variant appearance in text: N/A

PubMed Link: 31350822

Variant Present in the following documents:

View BVdb publication page

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Monitoring of cancer patients via next-generation sequencing of patient-derived circulating tumor cells and tumor DNA.

Cancer Science

Onidani, Kaoru K; Shoji, Hirokazu H; Kakizaki, Takahiko T; Yoshimoto, Seiichi S; Okaya, Shinobu S; Miura, Nami N; Sekikawa, Shoichi S; Furuta, Koh K; Lim, Chwee Teck CT; Shibahara, Takahiko T; Boku, Narikazu N; Kato, Ken K; Honda, Kazufumi K

Publication Date: 2019-08

Variant appearance in text: N/A

PubMed Link: 31169336

Variant Present in the following documents:

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: APC: 3921_3925delAAAAG; Glu1309Aspfs*4

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Wang, Dan D; Zhang, Zhao Z; Li, Yuwei Y; Xu, Chen C; Yu, Yongjun Y; Li, Mingsen M; Chen, Chao C; Zhang, Xipeng X

Publication Date: 2019-05-22

Variant appearance in text: APC: 3926_3930delAAAAG; Glu1309Aspfs*4

PubMed Link: 31113927

Variant Present in the following documents:

• Main text
• medscimonit-25-3796.pdf

View BVdb publication page

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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: 3926_3930delAAAAG; E1309Dfs*4

PubMed Link: 30925167

Variant Present in the following documents:

• pgen.1008076.s007.xlsx, sheet 1

View BVdb publication page

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Genotype-phenotype correlation in 99 familial adenomatous polyposis patients: A prospective prevention protocol.

Cancer Medicine

de Oliveira, Junea C JC; Viana, Danilo V DV; Zanardo, Cleyton C; Santos, Erika M M EMM; de Paula, André E AE; Palmero, Edenir I EI; Rossi, Benedito M BM

Publication Date: 2019-05

Variant appearance in text: APC: 3927_3931delAAAGA; Glu1309Aspfs*4

PubMed Link: 30897307

Variant Present in the following documents:

• Main text
• CAM4-8-2114.pdf

View BVdb publication page

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Clinicopathological characterization of SMAD4-mutated intestinal adenocarcinomas: A case-control study.

Plos One

Liao, Xiaoyan X; Hao, Yansheng Y; Zhang, Xiaofei X; Ward, Stephen S; Houldsworth, Jane J; Polydorides, Alexandros D AD; Harpaz, Noam N

Publication Date: 2019

Variant appearance in text: APC: 3921_3925delAAAAG; Glu1309fs*4

PubMed Link: 30730996

Variant Present in the following documents:

• pone.0212142.s001.xlsx, sheet 1

View BVdb publication page

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Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.

Oncotarget

Fountzilas, Elena E; Kotoula, Vassiliki V; Tikas, Ioannis I; Manousou, Kyriaki K; Papadopoulou, Kyriaki K; Poulios, Christos C; Karavasilis, Vasilios V; Efstratiou, Ioannis I; Pectasides, Dimitrios D; Papaparaskeva, Kleo K; Varthalitis, Ioannis I; Christodoulou, Christos C; Papatsibas, George G; Chrisafi, Sofia S; Glantzounis, Georgios K GK; Psyrri, Amanda A; Aravantinos, Gerasimos G; Koliou, Georgia-Angeliki GA; Koukoulis, George K GK; Pentheroudakis, George E GE; Fountzilas, George G

Publication Date: 2018-11-02

Variant appearance in text: APC: 3927_3931delAAAGA; Glu1309fs

PubMed Link: 30479693

Variant Present in the following documents:

• oncotarget-09-35623-s001.pdf

View BVdb publication page

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Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam.

Bmc Medical Genetics

Giang, Hoa H; Nguyen, Vu T VT; Nguyen, Sinh D SD; Nguyen, Huu-Phuc HP; Vo, Binh T BT; Nguyen, Truc M TM; Nguyen, Nguyen H NH; Truong, Kiet D KD; Do, Thanh-Thuy T TT; Phan, Minh-Duy MD; Nguyen, Hoai-Nghia HN

Publication Date: 2018-10-19

Variant appearance in text: APC: 3927_3931delAAAGA; Glu1309Aspfs

PubMed Link: 30340471

Variant Present in the following documents:

• Main text

View BVdb publication page

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Synonymous mutation adenomatous polyposis coliΔ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation‑negative familial adenomatous polyposis.

Molecular Medicine Reports

Liu, Wei Qing WQ; Dong, Jian J; Peng, Yan Xia YX; Li, Wen Liang WL; Yang, Jun J

Publication Date: 2018-12

Variant appearance in text: APC: 3927_3931delAAAGA; Glu1309AspfsTer4

PubMed Link: 30272267

Variant Present in the following documents:

• Main text

View BVdb publication page

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Contribution of allelic imbalance to colorectal cancer.

Nature Communications

Palin, Kimmo K; Pitkänen, Esa E; Turunen, Mikko M; Sahu, Biswajyoti B; Pihlajamaa, Päivi P; Kivioja, Teemu T; Kaasinen, Eevi E; Välimäki, Niko N; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Aavikko, Mervi M; Tuupanen, Sari S; Kilpivaara, Outi O; van den Berg, Linda L; Kondelin, Johanna J; Tanskanen, Tomas T; Katainen, Riku R; Grau, Marta M; Rauanheimo, Heli H; Plaketti, Roosa-Maria RM; Taira, Aurora A; Sulo, Päivi P; Hartonen, Tuomo T; Dave, Kashyap K; Schmierer, Bernhard B; Botla, Sandeep S; Sokolova, Maria M; Vähärautio, Anna A; Gladysz, Kornelia K; Ongen, Halit H; Dermitzakis, Emmanouil E; Bramsen, Jesper Bertram JB; Ørntoft, Torben Falck TF; Andersen, Claus Lindbjerg CL; Ristimäki, Ari A; Lepistö, Anna A; Renkonen-Sinisalo, Laura L; Mecklin, Jukka-Pekka JP; Taipale, Jussi J; Aaltonen, Lauri A LA

Publication Date: 2018-09-10

Variant appearance in text: APC: 3921_3925del; E1309fs

PubMed Link: 30202008

Variant Present in the following documents:

• 41467_2018_6132_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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Additional germline findings from a tumor profiling program.

Bmc Medical Genomics

Stjepanovic, Neda N; Stockley, Tracy L TL; Bedard, Philippe L PL; McCuaig, Jeanna M JM; Aronson, Melyssa M; Holter, Spring S; Semotiuk, Kara K; Leighl, Natasha B NB; Jang, Raymond R; Krzyzanowska, Monika K MK; Oza, Amit M AM; Gupta, Abha A; Elser, Christine C; Ahmed, Lailah L; Wang, Lisa L; Kamel-Reid, Suzanne S; Siu, Lillian L LL; Kim, Raymond H RH

Publication Date: 2018-08-09

Variant appearance in text: APC: 3927_3931del; Glu1309AspfsX4

PubMed Link: 30092803

Variant Present in the following documents:

• Main text
• 12920_2018_Article_383.pdf

View BVdb publication page

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