Publications:

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Is There an Independent Role of TERT and NF1 in High Grade Gliomas?

Translational Oncology

Razis, Evangelia E; Kotoula, Vassiliki V; Koliou, Georgia-Angeliki GA; Papadopoulou, Kyriaki K; Vrettou, Eleni E; Giannoulatou, Eleni E; Tikas, Ioannis I; Labropoulos, Stefanos V SV; Rigakos, Georgios G; Papaemmanoyil, Styliani S; Romanidou, Ourania O; Bourkoula, Eugenia E; Nomikos, Panagiotis P; Iliadis, Georgios G; Nasioulas, George G; Selviaridis, Panagiotis P; Polyzoidis, Konstantinos K; Fountzilas, George G

Publication Date: 2020-02

Variant appearance in text: NF1: Val1146Ile

PubMed Link: 31891871

Variant Present in the following documents:

• Main text
• main.pdf

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: NF1: 3436G>A; V1146I

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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NF1 mutations identify molecular and clinical subtypes of lung adenocarcinomas.

Cancer Medicine

Tlemsani, Camille C; Pécuchet, Nicolas N; Gruber, Aurelia A; Laurendeau, Ingrid I; Danel, Claire C; Riquet, Marc M; Le Pimpec-Barthes, Françoise F; Fabre, Elizabeth E; Mansuet-Lupo, Audrey A; Damotte, Diane D; Alifano, Marco M; Luscan, Armelle A; Rousseau, Benoit B; Vidaud, Dominique D; Varin, Jennifer J; Parfait, Beatrice B; Bieche, Ivan I; Leroy, Karen K; Laurent-Puig, Pierre P; Terris, Benoit B; Blons, Helene H; Vidaud, Michel M; Pasmant, Eric E

Publication Date: 2019-08

Variant appearance in text: NF1: 3436G>A; Val1146Ile

PubMed Link: 31199580

Variant Present in the following documents:

• CAM4-8-4330-s001.pdf

View BVdb publication page

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Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer

Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G

Publication Date: 2019-06-03

Variant appearance in text: NF1: 3436G>A; Val1146Ile; rs201047812

PubMed Link: 31159747

Variant Present in the following documents:

• 12885_2019_5756_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine

Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S

Publication Date: 2018-10

Variant appearance in text: rs201047812

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: NF1: V1146I

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 5
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 6
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: NF1: V1146I

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.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: NF1: 3436G>A; V1146I; rs201047812

PubMed Link: 29245897

Variant Present in the following documents:

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

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: NF1: 3436G>A; Val1146Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.

Journal Of Translational Medicine

Shi, Eileen E; Chmielecki, Juliann J; Tang, Chih-Min CM; Wang, Kai K; Heinrich, Michael C MC; Kang, Guhyun G; Corless, Christopher L CL; Hong, David D; Fero, Katherine E KE; Murphy, James D JD; Fanta, Paul T PT; Ali, Siraj M SM; De Siena, Martina M; Burgoyne, Adam M AM; Movva, Sujana S; Madlensky, Lisa L; Heestand, Gregory M GM; Trent, Jonathan C JC; Kurzrock, Razelle R; Morosini, Deborah D; Ross, Jeffrey S JS; Harismendy, Olivier O; Sicklick, Jason K JK

Publication Date: 2016-12-14

Variant appearance in text: NF1: V1146I

PubMed Link: 27974047

Variant Present in the following documents:

• 12967_2016_1075_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression.

Oncotarget

Tang, Chih-Min CM; Lee, Tracy E TE; Syed, Sabriya A SA; Burgoyne, Adam M AM; Leonard, Stephanie Y SY; Gao, Fei F; Chan, Jonathan C JC; Shi, Eileen E; Chmielecki, Juliann J; Morosini, Deborah D; Wang, Kai K; Ross, Jeffrey S JS; Kendrick, Michael L ML; Bardsley, Michael R MR; Siena, Martina De M; Mao, Junhao J; Harismendy, Olivier O; Ordog, Tamas T; Sicklick, Jason K JK

Publication Date: 2016-11-29

Variant appearance in text: NF1: V1146I

PubMed Link: 27793025

Variant Present in the following documents:

• Main text

View BVdb publication page

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