Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: EGFR: 1636C>T; Pro546Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs1057519830

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 4

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Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: EGFR: P546S

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 12

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The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.

Nature Cancer

Tamborero, David D; Dienstmann, Rodrigo R; Rachid, Maan Haj MH; Boekel, Jorrit J; Lopez-Fernandez, Adria A; Jonsson, Markus M; Razzak, Ali A; Braña, Irene I; De Petris, Luigi L; Yachnin, Jeffrey J; Baird, Richard D RD; Loriot, Yohann Y; Massard, Christophe C; Martin-Romano, Patricia P; Opdam, Frans F; Schlenk, Richard F RF; Vernieri, Claudio C; Masucci, Michele M; Villalobos, Xenia X; Chavarria, Elena E; , ; Balmaña, Judith J; Apolone, Giovanni G; Caldas, Carlos C; Bergh, Jonas J; Ernberg, Ingemar I; Fröhling, Stefan S; Garralda, Elena E; Karlsson, Claes C; Tabernero, Josep J; Voest, Emile E; Rodon, Jordi J; Lehtiö, Janne J

Publication Date: 2022-02

Variant appearance in text: EGFR: Pro546Ser

PubMed Link: 35221333

Variant Present in the following documents:

• 43018_2022_332_MOESM3_ESM.xlsx, sheet 1

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Proteogenomics of non-small cell lung cancer reveals molecular subtypes associated with specific therapeutic targets and immune evasion mechanisms.

Nature Cancer

Lehtiö, Janne J; Arslan, Taner T; Siavelis, Ioannis I; Pan, Yanbo Y; Socciarelli, Fabio F; Berkovska, Olena O; Umer, Husen M HM; Mermelekas, Georgios G; Pirmoradian, Mohammad M; Jönsson, Mats M; Brunnström, Hans H; Brustugun, Odd Terje OT; Purohit, Krishna Pinganksha KP; Cunningham, Richard R; Foroughi Asl, Hassan H; Isaksson, Sofi S; Arbajian, Elsa E; Aine, Mattias M; Karlsson, Anna A; Kotevska, Marija M; Gram Hansen, Carsten C; Drageset Haakensen, Vilde V; Helland, Åslaug Å; Tamborero, David D; Johansson, Henrik J HJ; Branca, Rui M RM; Planck, Maria M; Staaf, Johan J; Orre, Lukas M LM

Publication Date: 2021-11

Variant appearance in text: EGFR: 1636C>T

PubMed Link: 34870237

Variant Present in the following documents:

• EMS133264-supplement-Supplementary_Tables.xlsx, sheet 9

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: EGFR: 1636C>T; Pro546Ser

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: EGFR: P546S

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: EGFR: 1636C>T; Pro546Ser

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 4

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Clinical practice guidance for next-generation sequencing in cancer diagnosis and treatment (Edition 1.0).

Cancer Science

Sunami, Kuniko K; Takahashi, Hideaki H; Tsuchihara, Katsuya K; Takeda, Masayuki M; Suzuki, Tatsuya T; Naito, Yoichi Y; Sakai, Kazuko K; Dosaka-Akita, Hirotoshi H; Ishioka, Chikashi C; Kodera, Yasuhiro Y; Muto, Manabu M; Wakai, Toshifumi T; Yamazaki, Kentaro K; Yasui, Wataru W; Bando, Hideaki H; Fujimoto, Yumi Y; Fukuoka, Shota S; Harano, Kenichi K; Kawazoe, Akihito A; Kimura, Gen G; Koganemaru, Shigehiro S; Kogawa, Takahiro T; Kotani, Daisuke D; Kuboki, Yasutoshi Y; Matsumoto, Hiroshi H; Matsumoto, Shingo S; Mishima, Saori S; Nakamura, Yoshiaki Y; Sawada, Kentaro K; Shingaki, Sumito S; Shitara, Kohei K; Umemoto, Kumiko K; Umemura, Shigeki S; Yasuda, Kayo K; Yoshino, Takayuki T; Yamamoto, Noboru N; Nishio, Kazuto K; , ; , ; ,

Publication Date: 2018-09

Variant appearance in text: EGFR: P546S

PubMed Link: 30187675

Variant Present in the following documents:

• CAS-109-2980-s002.xlsx, sheet 1

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Integrative omics analyses broaden treatment targets in human cancer.

Genome Medicine

Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L

Publication Date: 2018-07-27

Variant appearance in text: EGFR: P546S

PubMed Link: 30053901

Variant Present in the following documents:

• 13073_2018_564_MOESM2_ESM.xlsx, sheet 3

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Prognostic and predictive value of EGFR in head and neck squamous cell carcinoma.

Oncotarget

Bossi, Paolo P; Resteghini, Carlo C; Paielli, Nicholas N; Licitra, Lisa L; Pilotti, Silvana S; Perrone, Federica F

Publication Date: 2016-11-08

Variant appearance in text: EGFR: P546S

PubMed Link: 27556186

Variant Present in the following documents:

• Main text
• oncotarget-07-74362.pdf

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Individualized strategies to target specific mechanisms of disease in malignant melanoma patients displaying unique mutational signatures.

Oncotarget

Curiel-Olmo, Soraya S; García-Castaño, Almudena A; Vidal, Rebeca R; Pisonero, Helena H; Varela, Ignacio I; León-Castillo, Alicia A; Trillo, Eugenio E; González-Vela, Carmen C; García-Diaz, Nuria N; Almaraz, Carmen C; Moreno, Thaidy T; Cereceda, Laura L; Madureira, Rebeca R; Martinez, Nerea N; Ortiz-Romero, Pablo P; Valdizán, Elsa E; Piris, Miguel A MA; Vaqué, José P JP; Piris, Miguel M; Vaqué, José J

Publication Date: 2015-09-22

Variant appearance in text: EGFR: P546S

PubMed Link: 26327537

Variant Present in the following documents:

• Main text

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A patient-derived somatic mutation in the epidermal growth factor receptor ligand-binding domain confers increased sensitivity to cetuximab in head and neck cancer.

European Journal Of Cancer (Oxford, England : 1990)

Bahassi, El Mustapha el M; Li, Ya-Qin YQ; Wise-Draper, Trisha M TM; Deng, Li L; Wang, Jiang J; Darnell, Colleen N CN; Wilson, Keith M KM; Wells, Susanne I SI; Stambrook, Peter J PJ; Rixe, Olivier O

Publication Date: 2013-07

Variant appearance in text: EGFR: P546S

PubMed Link: 23578570

Variant Present in the following documents:

• Main text

View BVdb publication page

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