APC c.3949G>C ;(p.E1317Q)

Variant ID: 5-112175240-G-C

NM_000038.5(APC):c.3949G>C;(p.E1317Q)

This variant was identified in 139 publications

View GRCh38 version.




Publications:


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: 3949G>C; Glu1317Gln; rs1801166
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 2
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Publication Date: 2023-01-17

Variant appearance in text: APC: E1317Q
PubMed Link: 36652909
Variant Present in the following documents:
  • mmc4.xlsx, sheet 7
View BVdb publication page



Ashkenazi Jewish and Other White APC I1307K Carriers Are at Higher Risk for Multiple Cancers.

Cancers
Forkosh, Esther E; Bergel, Michael M; Hatchell, Kathryn E KE; Nielsen, Sarah M SM; Heald, Brandie B; Benson, Ariel A AA; Friedman, Eitan E; Esplin, Edward D ED; Katz, Lior H LH
Publication Date: 2022-11-29

Variant appearance in text: APC: E1317Q
PubMed Link: 36497357
Variant Present in the following documents:
  • cancers-14-05875.pdf
View BVdb publication page



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: E1317Q; rs1801166
PubMed Link: 36315513
Variant Present in the following documents:
  • pone.0273835.s001.xlsx, sheet 1
View BVdb publication page



Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Pathobiology : Journal Of Immunopathology, Molecular And Cellular Biology
Haefliger, Simon S; Marston, Katharina K; Alborelli, Ilaria I; Stauffer, Edouard-Jean EJ; Gugger, Mathias M; Jermann, Philip M PM; Hoeller, Sylvia S; Tornillo, Luigi L; Terracciano, Luigi M LM; Bihl, Michel M; Matter, Matthias S MS
Publication Date: 2022-10-06

Variant appearance in text: APC: E1317Q
PubMed Link: 36202073
Variant Present in the following documents:
  • pat-0090-0166-s01.pdf
View BVdb publication page



[Association of CDH1, FANCB and APC Gene Polymorphisms 
with Lung Cancer Susceptibility in Chinese Population].

Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer
Su, Lianchun L; Huang, Hua H; Gao, Min M; Li, Yongwen Y; Shi, Ruifeng R; Chen, Chen C; Li, Xuanguang X; Zhu, Guangsheng G; Liu, Hongyu H; Chen, Jun J
Publication Date: 2022-09-20

Variant appearance in text: APC: E1317Q
PubMed Link: 36172730
Variant Present in the following documents:
  • zgfazz-25-9-658.pdf
View BVdb publication page



High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.

Nature Communications
Palafox, Marta M; Monserrat, Laia L; Bellet, Meritxell M; Villacampa, Guillermo G; Gonzalez-Perez, Abel A; Oliveira, Mafalda M; Brasó-Maristany, Fara F; Ibrahimi, Nusaibah N; Kannan, Srinivasaraghavan S; Mina, Leonardo L; Herrera-Abreu, Maria Teresa MT; Òdena, Andreu A; Sánchez-Guixé, Mònica M; Capelán, Marta M; Azaro, Analía A; Bruna, Alejandra A; Rodríguez, Olga O; Guzmán, Marta M; Grueso, Judit J; Viaplana, Cristina C; Hernández, Javier J; Su, Faye F; Lin, Kui K; Clarke, Robert B RB; Caldas, Carlos C; Arribas, Joaquín J; Michiels, Stefan S; García-Sanz, Alicia A; Turner, Nicholas C NC; Prat, Aleix A; Nuciforo, Paolo P; Dienstmann, Rodrigo R; Verma, Chandra S CS; Lopez-Bigas, Nuria N; Scaltriti, Maurizio M; Arnedos, Monica M; Saura, Cristina C; Serra, Violeta V
Publication Date: 2022-09-07

Variant appearance in text: APC: 3949G>C; E1317Q
PubMed Link: 36071033
Variant Present in the following documents:
  • 41467_2022_32828_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Molecular characterization of colorectal cancer patients

Biomedica : Revista Del Instituto Nacional De Salud
Afanador, Carlos Humberto CH; Palacio, Katherine Andrea KA; Isaza, Luis Fernando LF; Ahumada, Enoc E; Ocampo, Carlos Mauricio CM; Muñetón, Carlos Mario CM
Publication Date: 2022-05-01

Variant appearance in text: APC: E1317Q
PubMed Link: 35866738
Variant Present in the following documents:
  • 2590-7379-bio-42-s1-5957.pdf
View BVdb publication page



Detection of disease-causing mutations in prostate cancer by NGS sequencing.

Cell Biology International
Mangolini, Alessandra A; Rocca, Christian C; Bassi, Cristian C; Ippolito, Carmelo C; Negrini, Massimo M; Dell'Atti, Lucio L; Lanza, Giovanni G; Gafà, Roberta R; Bianchi, Nicoletta N; Pinton, Paolo P; Aguiari, Gianluca G
Publication Date: 2022-07

Variant appearance in text: rs1801166
PubMed Link: 35347810
Variant Present in the following documents:
  • CBIN-46-1047-s001.xlsx, sheet 1
View BVdb publication page



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: E1317Q
PubMed Link: 35306340
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Detection of genetic mutations in patients with breast cancer from Saudi Arabia using Ion AmpliSeq™ Cancer Hotspot Panel v.2.0.

Biomedical Reports
Messaoudi, Safia A SA; Al Sharhan, Nourah A NA; Alharthi, Bandar B; Babu, Saranya R SR; Alsaleh, Abrar B AB; Alasiri, Alanoud M AM; Assidi, Mourad M; Buhmeida, Abdelbaset A; Almawi, Wassim Y WY
Publication Date: 2022-04

Variant appearance in text: APC: 3949G>C; Glu1317Gln
PubMed Link: 35251613
Variant Present in the following documents:
  • br-16-04-01509.pdf
View BVdb publication page



Discordance of PIK3CA and TP53 mutations between breast cancer brain metastases and matched primary tumors.

Scientific Reports
Thulin, Anna A; Andersson, Carola C; Werner Rönnerman, Elisabeth E; De Lara, Shahin S; Chamalidou, Chaido C; Schoenfeld, Arnd A; Kovács, Anikó A; Fagman, Henrik H; Enlund, Fredrik F; Linderholm, Barbro K BK
Publication Date: 2021-12-07

Variant appearance in text: APC: E1317Q
PubMed Link: 34876602
Variant Present in the following documents:
  • 41598_2021_2903_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Discordance of PIK3CA and TP53 mutations between breast cancer brain metastases and matched primary tumors.

Scientific Reports
Thulin, Anna A; Andersson, Carola C; Werner Rönnerman, Elisabeth E; De Lara, Shahin S; Chamalidou, Chaido C; Schoenfeld, Arnd A; Kovács, Anikó A; Fagman, Henrik H; Enlund, Fredrik F; Linderholm, Barbro K BK
Publication Date: 2021-12-07

Variant appearance in text: APC: E1317Q
PubMed Link: 34876602
Variant Present in the following documents:
  • 41598_2021_2903_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Serial monitoring of genomic alterations in circulating tumor cells of ER-positive/HER2-negative advanced breast cancer: feasibility of precision oncology biomarker detection.

Molecular Oncology
Cani, Andi K AK; Dolce, Emily M EM; Darga, Elizabeth P EP; Hu, Kevin K; Liu, Chia-Jen CJ; Pierce, Jackie J; Bradbury, Kieran K; Kilgour, Elaine E; Aung, Kimberly K; Schiavon, Gaia G; Carroll, Danielle D; Carr, T Hedley TH; Klinowska, Teresa T; Lindemann, Justin J; Marshall, Gayle G; Rowlands, Vicky V; Harrington, Elizabeth A EA; Barrett, J Carl JC; Sathiyayogan, Nitharsan N; Morrow, Christopher C; Sero, Valeria V; Armstrong, Anne C AC; Baird, Richard R; Hamilton, Erika E; Im, Seock-Ah SA; Jhaveri, Komal K; Patel, Manish R MR; Dive, Caroline C; Tomlins, Scott A SA; Udager, Aaron M AM; Hayes, Daniel F DF; Paoletti, Costanza C
Publication Date: 2022-05

Variant appearance in text: APC: E1317Q
PubMed Link: 34866317
Variant Present in the following documents:
  • MOL2-16-1969-s001.pdf
View BVdb publication page



Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology
Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD
Publication Date: 2021-11-18

Variant appearance in text: APC: 3949G>C; E1317Q; rs1801166
PubMed Link: 34797250
Variant Present in the following documents:
  • ct9-12-e00431-s006.xlsx, sheet 1
  • ct9-12-e00431-s005.xlsx, sheet 1
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: APC: E1317Q
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



CRISPR/Cas13-Based Platforms for a Potential Next-Generation Diagnosis of Colorectal Cancer through Exosomes Micro-RNA Detection: A Review.

Cancers
Durán-Vinet, Benjamín B; Araya-Castro, Karla K; Calderón, Juan J; Vergara, Luis L; Weber, Helga H; Retamales, Javier J; Araya-Castro, Paulina P; Leal-Rojas, Pamela P
Publication Date: 2021-09-16

Variant appearance in text: APC: E1317Q
PubMed Link: 34572866
Variant Present in the following documents:
  • cancers-13-04640.pdf
View BVdb publication page



Next-Generation Sequencing in the Diagnosis of Metastatic Lesions: Reclassification of a Glioblastoma as an Endometrial Cancer Metastasis to the Brain.

The Oncologist
Leung, Shuk On Annie SOA; Foley, Olivia O; Chapel, David D; Da Silva, Annacarolina A; Nucci, Marisa M; Muto, Michael G MG; Campos, Susana S
Publication Date: 2021-12

Variant appearance in text: APC: E1317Q
PubMed Link: 34355460
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 3949G>C; E1317Q; rs1801166
PubMed Link: 34315821
Variant Present in the following documents:
  • jitc-2021-002844supp002.xlsx, sheet 1
View BVdb publication page



Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08

Variant appearance in text: APC: 3949G>C; Glu1317Gln; rs1801166
PubMed Link: 33840814
Variant Present in the following documents:
  • 41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08

Variant appearance in text: APC: 3949G>C; Glu1317Gln; rs1801166
PubMed Link: 33840814
Variant Present in the following documents:
  • 41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Profiling of circulating tumor DNA and tumor tissue for treatment selection in patients with advanced and refractory carcinoma: a prospective, two-stage phase II Individualized Cancer Treatment trial.

Therapeutic Advances In Medical Oncology
Riedl, Jakob M JM; Hasenleithner, Samantha O SO; Pregartner, Gudrun G; Scheipner, Lukas L; Posch, Florian F; Groller, Karin K; Kashofer, Karl K; Jahn, Stephan W SW; Bauernhofer, Thomas T; Pichler, Martin M; Stöger, Herbert H; Berghold, Andrea A; Hoefler, Gerald G; Speicher, Michael R MR; Heitzer, Ellen E; Gerger, Armin A
Publication Date: 2021

Variant appearance in text: APC: E1317Q
PubMed Link: 33717225
Variant Present in the following documents:
  • sj-pdf-1-tam-10.1177_1758835920987658.pdf
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: 3949G>C; E1317Q
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: APC: 3949G>C; Glu1317Gln; rs1801166
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Molecular Profiling of Merkel Cell Polyomavirus-Associated Merkel Cell Carcinoma and Cutaneous Melanoma.

Diagnostics (Basel, Switzerland)
Mokánszki, Attila A; Méhes, Gábor G; Csoma, Szilvia Lilla SL; Kollár, Sándor S; Chang Chien, Yi-Che YC
Publication Date: 2021-02-01

Variant appearance in text: APC: 3949G>C; Glu1317Gln
PubMed Link: 33535453
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00212.pdf
View BVdb publication page



APC Mutations Are Not Confined to Hotspot Regions in Early-Onset Colorectal Cancer.

Cancers
Aitchison, Alan A; Hakkaart, Christopher C; Day, Robert C RC; Morrin, Helen R HR; Frizelle, Frank A FA; Keenan, Jacqueline I JI
Publication Date: 2020-12-18

Variant appearance in text: APC: 3949G>C; E1317Q; rs1801166
PubMed Link: 33352971
Variant Present in the following documents:
  • Main text
  • cancers-12-03829.pdf
View BVdb publication page



Short tandem repeat profiling for the authentication of cancer stem-like cells.

International Journal Of Cancer
Visconti, Paola P; Parodi, Federica F; Parodi, Barbara B; Casarino, Lucia L; Romano, Paolo P; Buccarelli, Mariachiara M; Pallini, Roberto R; D'Alessandris, Quintino Giorgio QG; Montori, Andrea A; Pilozzi, Emanuela E; Ricci-Vitiani, Lucia L
Publication Date: 2021-03-15

Variant appearance in text: APC: 3949G>C; Glu1317Gln
PubMed Link: 33128777
Variant Present in the following documents:
  • IJC-148-1489-s001.pdf
View BVdb publication page



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: 3949G>C; Glu1317Gln; rs1801166
PubMed Link: 33083132
Variant Present in the following documents:
  • peerj-08-10069-s013.xlsx, sheet 1
  • peerj-08-10069-s012.xlsx, sheet 1
  • peerj-08-10069-s010.xlsx, sheet 1
  • peerj-08-10069-s009.xlsx, sheet 1
View BVdb publication page



Exploitation of Precision Medicine Trials Data: Examples of Long Responders From the SHIVA01 Trial.

Jco Precision Oncology
Basse, Clémence C; Morel, Claire C; Callens, Céline C; Pierron, Gaëlle G; Servois, Vincent V; Vincent-Salomon, Anne A; Jobard, Aude A; Alt, Marie M; Ricci, Francesco F; Loirat, Delphine D; Sablin, Marie-Paule MP; Bretagne, Marie M; Saint-Ghislain, Mathilde M; Hescot, Ségolène S; Gonçalves, Anthony A; Tredan, Olivier O; Dubot, Coraline C; Gavoille, Céline C; Delord, Jean-Pierre JP; Campone, Mario M; Isambert, Nicolas N; Belin, Lisa L; Bieche, Ivan I; Kamal, Maud M; Le Tourneau, Christophe C
Publication Date: 2018

Variant appearance in text: APC: Glu1317Gln
PubMed Link: 32914004
Variant Present in the following documents:
  • PO.18.00048.pdf
View BVdb publication page



Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.

Cancers
Fanale, Daniele D; Incorvaia, Lorena L; Filorizzo, Clarissa C; Bono, Marco M; Fiorino, Alessia A; Calò, Valentina V; Brando, Chiara C; Corsini, Lidia Rita LR; Barraco, Nadia N; Badalamenti, Giuseppe G; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2020-08-25

Variant appearance in text: APC: 3949G>C; Glu1317Gln
PubMed Link: 32854451
Variant Present in the following documents:
  • Main text
  • cancers-12-02415.pdf
View BVdb publication page



TRF2 and VEGF-A: an unknown relationship with prognostic impact on survival of colorectal cancer patients.

Journal Of Experimental & Clinical Cancer Research : Cr
Dinami, Roberto R; Porru, Manuela M; Amoreo, Carla Azzurra CA; Sperduti, Isabella I; Mottolese, Marcella M; Buglioni, Simonetta S; Marinelli, Daniele D; Maugeri-Saccà, Marcello M; Sacconi, Andrea A; Blandino, Giovanni G; Leonetti, Carlo C; Di Rocco, Giuliana G; Verdina, Alessandra A; Spinella, Francesca F; Fiorentino, Francesco F; Ciliberto, Gennaro G; Biroccio, Annamaria A; Zizza, Pasquale P
Publication Date: 2020-06-15

Variant appearance in text: APC: E1317Q
PubMed Link: 32539869
Variant Present in the following documents:
  • 13046_2020_1612_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics
Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U
Publication Date: 2020-07

Variant appearance in text: APC: 3949G>C; E1317Q; rs1801166
PubMed Link: 32424350
Variant Present in the following documents:
  • NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
View BVdb publication page



Targeted next generation sequencing identifies somatic mutations in a cohort of Egyptian breast cancer patients.

Journal Of Advanced Research
Nassar, Auhood A; Abouelhoda, Mohamed M; Mansour, Osman O; Loutfy, Samah A SA; Hafez, Mohamed M MM; Gomaa, M M; Bahnassy, Abeer A; El-Din Youssef, Amira Salah AS; Lotfy, Mai M MM; Ismail, Hoda H; Ahmed, Ola S OS; Abou-Bakr, Amany Abd-Elhameed AA; Zekri, Abdel-Rahman N AN
Publication Date: 2020-07

Variant appearance in text: APC: 3949G>C; E1317Q
PubMed Link: 32322420
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patients with non-colorectal cancers may be at elevated risk of colorectal neoplasia.

Journal Of Cancer
Abu-Sbeih, Hamzah H; Ali, Faisal S FS; Qiao, Wei W; Lum, Phillip P; Shafi, Mehnaz A MA; Bresalier, Robert S RS; Hawk, Ernest E; Raju, Gottumukkala S GS; Wang, Yinghong Y
Publication Date: 2020

Variant appearance in text: APC: E1317Q
PubMed Link: 32231724
Variant Present in the following documents:
  • jcav11p3192.pdf
View BVdb publication page



A phase I dose-escalation study of enzalutamide in combination with the AKT inhibitor AZD5363 (capivasertib) in patients with metastatic castration-resistant prostate cancer.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Kolinsky, M P MP; Rescigno, P P; Bianchini, D D; Zafeiriou, Z Z; Mehra, N N; Mateo, J J; Michalarea, V V; Riisnaes, R R; Crespo, M M; Figueiredo, I I; Miranda, S S; Nava Rodrigues, D D; Flohr, P P; Tunariu, N N; Banerji, U U; Ruddle, R R; Sharp, A A; Welti, J J; Lambros, M M; Carreira, S S; Raynaud, F I FI; Swales, K E KE; Plymate, S S; Luo, J J; Tovey, H H; Porta, N N; Slade, R R; Leonard, L L; Hall, E E; de Bono, J S JS
Publication Date: 2020-05

Variant appearance in text: APC: E1317Q
PubMed Link: 32205016
Variant Present in the following documents:
  • mmc9.xlsx, sheet 1
View BVdb publication page



A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants.

Ebiomedicine
Earl, Julie J; Galindo-Pumariño, Cristina C; Encinas, Jessica J; Barreto, Emma E; Castillo, Maria E ME; Pachón, Vanessa V; Ferreiro, Reyes R; Rodríguez-Garrote, Mercedes M; González-Martínez, Silvia S; Ramon Y Cajal, Teresa T; Diaz, Luis Robles LR; Chirivella-Gonzalez, Isabel I; Rodriguez, Montse M; de Castro, Eva Martínez EM; García-Seisdedos, David D; Muñoz, Gloria G; Rosa, Juan Manuel Rosa JMR; Marquez, Mirari M; Malats, Nuría N; Carrato, Alfredo A
Publication Date: 2020-03

Variant appearance in text: APC: 3949G>C; Glu1317Gln; rs1801166
PubMed Link: 32113160
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: APC: E1317Q
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Down-regulation of SLC35C1 induces colon cancer through over-activating Wnt pathway.

Journal Of Cellular And Molecular Medicine
Deng, Minzi M; Chen, Zhihong Z; Tan, Jieqiong J; Liu, Heli H
Publication Date: 2020-03

Variant appearance in text: APC: E1317Q
PubMed Link: 31961998
Variant Present in the following documents:
  • JCMM-24-3079.pdf
View BVdb publication page



Combining lexical and context features for automatic ontology extension.

Journal Of Biomedical Semantics
Althubaiti, Sara S; Kafkas, Şenay Ş; Abdelhakim, Marwa M; Hoehndorf, Robert R
Publication Date: 2020-01-13

Variant appearance in text: APC: E1317Q
PubMed Link: 31931870
Variant Present in the following documents:
  • 13326_2019_218_MOESM2_ESM.xls, sheet 1
View BVdb publication page



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: 3949G>C; E1317Q
PubMed Link: 31896942
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: APC: 3949G>C; E1317Q; rs1801166
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut
Montazeri, Zahra Z; Li, Xue X; Nyiraneza, Christine C; Ma, Xiangyu X; Timofeeva, Maria M; Svinti, Victoria V; Meng, Xiangrui X; He, Yazhou Y; Bo, Yacong Y; Morgan, Samuel S; Castellví-Bel, Sergi S; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Ángel Á; Castells, Antoni A; Bishop, Timothy T; Buchanan, Daniel D; Jenkins, Mark A MA; Keku, Temitope O TO; Lindblom, Annika A; van Duijnhoven, Fränzel J B FJB; Wu, Anna A; Farrington, Susan M SM; Dunlop, Malcolm G MG; Campbell, Harry H; Theodoratou, Evropi E; Zheng, Wei W; Little, Julian J
Publication Date: 2020-08

Variant appearance in text: APC: E1317Q; rs1801166
PubMed Link: 31818908
Variant Present in the following documents:
  • gutjnl-2019-319313supp002.pdf
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: APC: E1317Q; rs1801166
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Rectal cancer sub-clones respond differentially to neoadjuvant therapy.

Neoplasia (New York, N.Y.)
Frydrych, Lynn M LM; Ulintz, Peter P; Bankhead, Armand A; Sifuentes, Christopher C; Greenson, Joel J; Maguire, Lillias L; Irwin, Regina R; Fearon, Eric R ER; Hardiman, Karin M KM
Publication Date: 2019-10

Variant appearance in text: APC: 3949G>C
PubMed Link: 31521947
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



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: 3949G>C; E1317Q
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Rectal Aberrant Crypt Foci in Humans Are Not Surrogate Markers for Colorectal Cancer Risk.

Clinical And Translational Gastroenterology
Quintanilla, Isabel I; López-Cerón, María M; Jimeno, Mireya M; Cuatrecasas, Miriam M; Zabalza, Michel M; Moreira, Leticia L; Alonso, Virginia V; Rodríguez de Miguel, Cristina C; Muñoz, Jennifer J; Castellvi-Bel, Sergi S; Llach, Josep J; Castells, Antoni A; Balaguer, Francesc F; Camps, Jordi J; Pellisé, Maria M
Publication Date: 2019-06

Variant appearance in text: APC: E1317Q
PubMed Link: 31136360
Variant Present in the following documents:
  • Main text
  • ct9-10-e00047.pdf
View BVdb publication page



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: E1317Q
PubMed Link: 31113927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prognostic impact of ATM mutations in patients with metastatic colorectal cancer.

Scientific Reports
Randon, Giovanni G; Fucà, Giovanni G; Rossini, Daniele D; Raimondi, Alessandra A; Pagani, Filippo F; Perrone, Federica F; Tamborini, Elena E; Busico, Adele A; Peverelli, Giorgia G; Morano, Federica F; Niger, Monica M; Antista, Maria M; Corallo, Salvatore S; Saggio, Serena S; Borelli, Beatrice B; Zucchelli, Gemma G; Milione, Massimo M; Pruneri, Giancarlo G; Di Bartolomeo, Maria M; Falcone, Alfredo A; de Braud, Filippo F; Cremolini, Chiara C; Pietrantonio, Filippo F
Publication Date: 2019-02-27

Variant appearance in text: APC: E1317Q
PubMed Link: 30814645
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_39525.pdf
View BVdb publication page



Association between MTHFR 677C>T Polymorphism and Vitamin B12 Deficiency: A Case-control Study.

Journal Of Medical Biochemistry
Al-Batayneh, Khalid M KM; Zoubi, Mazhar Salim Al MSA; Shehab, Murad M; Al-Trad, Bahaa B; Bodoor, Khaldon K; Khateeb, Wesam Al WA; Aljabali, Alaa A A AAA; Hamad, Mohammad Al MA; Eaton, Greg G
Publication Date: 2018-04

Variant appearance in text: rs1801166
PubMed Link: 30581350
Variant Present in the following documents:
  • Main text
  • jomb-37-141.pdf
View BVdb publication page



Biomarkers in colorectal cancer: Current clinical utility and future perspectives.

World Journal Of Clinical Cases
Vacante, Marco M; Borzì, Antonio Maria AM; Basile, Francesco F; Biondi, Antonio A
Publication Date: 2018-12-06

Variant appearance in text: APC: E1317Q
PubMed Link: 30568941
Variant Present in the following documents:
  • Main text
View BVdb publication page



Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.

Haematologica
Shahin, Tala T; Aschenbrenner, Dominik D; Cagdas, Deniz D; Bal, Sevgi Köstel SK; Conde, Cecilia Domínguez CD; Garncarz, Wojciech W; Medgyesi, David D; Schwerd, Tobias T; Karaatmaca, Betül B; Cetinkaya, Pınar Gur PG; Esenboga, Saliha S; Twigg, Stephen R F SRF; Cant, Andrew A; Wilkie, Andrew O M AOM; Tezcan, Ilhan I; Uhlig, Holm H HH; Boztug, Kaan K
Publication Date: 2019-03

Variant appearance in text: APC: E1317Q; rs1801166
PubMed Link: 30309848
Variant Present in the following documents:
  • 2018.194233.SHAHIN_SUPPL.pdf
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: 3949G>C; E1317Q
PubMed Link: 30064409
Variant Present in the following documents:
  • 12894_2018_380_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: APC: 3949G>C; Glu1317Gln; rs1801166
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s8.xls, sheet 4
View BVdb publication page



Lower Relative Contribution of Positive Family History to Colorectal Cancer Risk with Increasing Age: A Systematic Review and Meta-Analysis of 9.28 Million Individuals.

The American Journal Of Gastroenterology
Wong, Martin C S MCS; Chan, C H CH; Lin, Jiayan J; Huang, Jason L W JLW; Huang, Junjie J; Fang, Yuan Y; Cheung, Wilson W L WWL; Yu, C P CP; Wong, John C T JCT; Tse, Gary G; Wu, Justin C Y JCY; Chan, Francis K L FKL
Publication Date: 2018-12

Variant appearance in text: APC: E1317Q
PubMed Link: 29867176
Variant Present in the following documents:
  • ajgast-113-1819.pdf
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: 3949G>C; E1317Q
PubMed Link: 29659903
Variant Present in the following documents:
  • hyy052supplementaltable1ionver1.xls, sheet 1
View BVdb publication page



Improving diagnosis, prognosis and prediction by using biomarkers in CRC patients (Review).

Oncology Reports
Nikolouzakis, Taxiarchis Konstantinos TK; Vassilopoulou, Loukia L; Fragkiadaki, Persefoni P; Mariolis Sapsakos, Theodoros T; Papadakis, Georgios Z GZ; Spandidos, Demetrios A DA; Tsatsakis, Aristides M AM; Tsiaoussis, John J
Publication Date: 2018-06

Variant appearance in text: APC: E1317Q
PubMed Link: 29565457
Variant Present in the following documents:
  • Main text
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: APC: E1317Q; rs1801166
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



Genome-wide profiling identifies the THYT1 signature as a distinctive feature of widely metastatic Papillary Thyroid Carcinomas.

Oncotarget
Gandolfi, Greta G; Ragazzi, Moira M; de Biase, Dario D; Visani, Michela M; Zanetti, Eleonora E; Torricelli, Federica F; Sancisi, Valentina V; Gugnoni, Mila M; Manzotti, Gloria G; Braglia, Luca L; Cavuto, Silvio S; Merlo, Domenico Franco DF; Tallini, Giovanni G; Frasoldati, Andrea A; Piana, Simonetta S; Ciarrocchi, Alessia A
Publication Date: 2018-01-05

Variant appearance in text: APC: E1317Q
PubMed Link: 29416733
Variant Present in the following documents:
  • oncotarget-09-1813-s001.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: E1317Q; rs1801166
PubMed Link: 29245953
Variant Present in the following documents:
  • oncotarget-08-99966-s003.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: 3949G>C; E1317Q
PubMed Link: 29161613
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



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: 3949G>C; E1317Q
PubMed Link: 29082853
Variant Present in the following documents:
  • 13073_2017_478_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



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: 3949G>C; Glu1317Gln; rs1801166
PubMed Link: 28944238
Variant Present in the following documents:
  • MGG3-5-553-s002.xlsx, sheet 2
View BVdb publication page



Integrating genomic alterations in diffuse large B-cell lymphoma identifies new relevant pathways and potential therapeutic targets.

Leukemia
Karube, K K; Enjuanes, A A; Dlouhy, I I; Jares, P P; Martin-Garcia, D D; Nadeu, F F; Ordóñez, G R GR; Rovira, J J; Clot, G G; Royo, C C; Navarro, A A; Gonzalez-Farre, B B; Vaghefi, A A; Castellano, G G; Rubio-Perez, C C; Tamborero, D D; Briones, J J; Salar, A A; Sancho, J M JM; Mercadal, S S; Gonzalez-Barca, E E; Escoda, L L; Miyoshi, H H; Ohshima, K K; Miyawaki, K K; Kato, K K; Akashi, K K; Mozos, A A; Colomo, L L; Alcoceba, M M; Valera, A A; Carrió, A A; Costa, D D; Lopez-Bigas, N N; Schmitz, R R; Staudt, L M LM; Salaverria, I I; López-Guillermo, A A; Campo, E E
Publication Date: 2018-03

Variant appearance in text: APC: 3949G>C; E1317Q
PubMed Link: 28804123
Variant Present in the following documents:
  • leu2017251x2.xlsx, sheet 4
  • leu2017251x2.xlsx, sheet 3
View BVdb publication page



A novel molecular diagnostics platform for somatic and germline precision oncology.

Molecular Genetics & Genomic Medicine
Cabanillas, Rubén R; Diñeiro, Marta M; Castillo, David D; Pruneda, Patricia C PC; Penas, Cristina C; Cifuentes, Guadalupe A GA; de Vicente, Álvaro Á; Durán, Noelia S NS; Álvarez, Rebeca R; Ordóñez, Gonzalo R GR; Cadiñanos, Juan J
Publication Date: 2017-07

Variant appearance in text: APC: 3949G>C; E1317Q
PubMed Link: 28717660
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel APC gene mutations associated with protein alteration in diffuse type gastric cancer.

Bmc Medical Genetics
Ghatak, Souvik S; Chakraborty, Payel P; Sarkar, Sandeep Roy SR; Chowdhury, Biswajit B; Bhaumik, Arup A; Kumar, Nachimuthu Senthil NS
Publication Date: 2017-06-02

Variant appearance in text: APC: E1317Q
PubMed Link: 28576136
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 3949G>C; Glu1317Gln
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Treatment inferred from mutations identified using massive parallel sequencing leads to clinical benefit in some heavily pretreated cancer patients.

Medicine
Zick, Aviad A; Peretz, Tamar T; Lotem, Michal M; Hubert, Ayala A; Katz, Daniela D; Temper, Mark M; Rottenberg, Yakir Y; Uziely, Beatrice B; Nechushtan, Hovav H; Meirovitz, Amichai A; Sonnenblick, Amir A; Sapir, Eli E; Edelman, David D; Goldberg, Yael Y; Lossos, Alexander A; Rosenberg, Shai S; Fried, Iris I; Finklstein, Ruth R; Pikarsky, Eli E; Goldshmidt, Hanoch H
Publication Date: 2017-05

Variant appearance in text: APC: E1317Q
PubMed Link: 28514312
Variant Present in the following documents:
  • medi-96-e6931.pdf
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: APC: E1317Q; rs1801166
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 8
View BVdb publication page



Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

Plos Medicine
Hamblin, Angela A; Wordsworth, Sarah S; Fermont, Jilles M JM; Page, Suzanne S; Kaur, Kulvinder K; Camps, Carme C; Kaisaki, Pamela P; Gupta, Avinash A; Talbot, Denis D; Middleton, Mark M; Henderson, Shirley S; Cutts, Anthony A; Vavoulis, Dimitrios V DV; Housby, Nick N; Tomlinson, Ian I; Taylor, Jenny C JC; Schuh, Anna A
Publication Date: 2017-02

Variant appearance in text: APC: 3949G>C; E1317Q
PubMed Link: 28196074
Variant Present in the following documents:
  • pmed.1002230.s004.xlsx, sheet 3
  • pmed.1002230.s004.xlsx, sheet 2
View BVdb publication page



Efficiency of olaparib in colorectal cancer patients with an alteration of the homologous repair protein.

World Journal Of Gastroenterology
Ghiringhelli, Francois F; Richard, Corentin C; Chevrier, Sandy S; Végran, Frédérique F; Boidot, Romain R
Publication Date: 2016-12-28

Variant appearance in text: APC: 3949G>C; Glu1317Gln
PubMed Link: 28082821
Variant Present in the following documents:
  • Main text
View BVdb publication page