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: 4360A>G; Lys1454Glu; rs111866410

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: 4360A>G; Lys1454Glu; rs111866410

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1
• crc-22-0136-s01.xlsx, sheet 9

View BVdb publication page

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Hereditary variants of unknown significance in African American women with breast cancer.

Plos One

McDonald, J Tyson JT; Ricks-Santi, Luisel J LJ

Publication Date: 2022

Variant appearance in text: APC: K1454E; rs111866410

PubMed Link: 36315513

Variant Present in the following documents:

• pone.0273835.s001.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: 4360A>G; K1454E

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: APC: 4360A>G; K1454E

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: rs111866410

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 2

View BVdb publication page

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Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.

Oncotarget

Izquierdo, Elisa E; Yuan, Lina L; George, Sally S; Hubank, Michael M; Jones, Chris C; Proszek, Paula P; Shipley, Janet J; Gatz, Susanne A SA; Stinson, Caedyn C; Moore, Andrew S AS; Clifford, Steven C SC; Hicks, Debbie D; Lindsey, Janet C JC; Hill, Rebecca M RM; Jacques, Thomas S TS; Chalker, Jane J; Thway, Khin K; O'Connor, Simon S; Marshall, Lynley L; Moreno, Lucas L; Pearson, Andrew A; Chesler, Louis L; Walker, Brian A BA; De Castro, David Gonzalez DG

Publication Date: 2017-12-19

Variant appearance in text: APC: K1454E; rs111866410

PubMed Link: 29340109

Variant Present in the following documents:

• oncotarget-08-112036-s003.xlsx, sheet 1

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: APC: 4360A>G; K1454E; rs111866410

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

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Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.

Genome Medicine

Li, Shuyu D SD; Ma, Meng M; Li, Hui H; Waluszko, Aneta A; Sidorenko, Tatyana T; Schadt, Eric E EE; Zhang, David Y DY; Chen, Rong R; Ye, Fei F

Publication Date: 2017-10-30

Variant appearance in text: APC: 4360A>G; K1454E

PubMed Link: 29082853

Variant Present in the following documents:

• 13073_2017_478_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine

DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN

Publication Date: 2017-09

Variant appearance in text: APC: 4360A>G; Lys1454Glu; rs111866410

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 2

View BVdb publication page

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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: 4360A>G; Lys1454Glu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2015

Variant appearance in text: APC: 4360A>G; Lys1454Glu; rs111866410

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, sheet 1

View BVdb publication page

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Network quantification of EGFR signaling unveils potential for targeted combination therapy.

Molecular Systems Biology

Klinger, Bertram B; Sieber, Anja A; Fritsche-Guenther, Raphaela R; Witzel, Franziska F; Berry, Leanne L; Schumacher, Dirk D; Yan, Yibing Y; Durek, Pawel P; Merchant, Mark M; Schäfer, Reinhold R; Sers, Christine C; Blüthgen, Nils N

Publication Date: 2013

Variant appearance in text: APC: K1454E; rs111866410

PubMed Link: 23752269

Variant Present in the following documents:

• msb201329-s3.xls, sheet 1

View BVdb publication page

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The mutational landscape of lethal castration-resistant prostate cancer.

Nature

Grasso, Catherine S CS; Wu, Yi-Mi YM; Robinson, Dan R DR; Cao, Xuhong X; Dhanasekaran, Saravana M SM; Khan, Amjad P AP; Quist, Michael J MJ; Jing, Xiaojun X; Lonigro, Robert J RJ; Brenner, J Chad JC; Asangani, Irfan A IA; Ateeq, Bushra B; Chun, Sang Y SY; Siddiqui, Javed J; Sam, Lee L; Anstett, Matt M; Mehra, Rohit R; Prensner, John R JR; Palanisamy, Nallasivam N; Ryslik, Gregory A GA; Vandin, Fabio F; Raphael, Benjamin J BJ; Kunju, Lakshmi P LP; Rhodes, Daniel R DR; Pienta, Kenneth J KJ; Chinnaiyan, Arul M AM; Tomlins, Scott A SA

Publication Date: 2012-07-12

Variant appearance in text: APC: K1454E

PubMed Link: 22722839

Variant Present in the following documents:

• NIHMS368879-supplement-1.pdf
• NIHMS368879-supplement-2.xlsx, sheet 15

View BVdb publication page

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: APC: K1454E

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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