Publications:

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The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer.

British Journal Of Cancer

Trotman, Jamie J; Armstrong, Ruth R; Firth, Helen H; Trayers, Claire C; Watkins, James J; Allinson, Kieren K; Jacques, Thomas S TS; Nicholson, James C JC; Burke, G A Amos GAA; , ; Behjati, Sam S; Murray, Matthew J MJ; Hook, Catherine E CE; Tarpey, Patrick P

Publication Date: 2022-07

Variant appearance in text: BRAF: 1636A>G

PubMed Link: 35449451

Variant Present in the following documents:

• 41416_2022_1788_MOESM4_ESM.pdf

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Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma.

Cancers

Sarkadi, Balazs B; Liko, Istvan I; Nyiro, Gabor G; Igaz, Peter P; Butz, Henriett H; Patocs, Attila A

Publication Date: 2021-08-22

Variant appearance in text: BRAF: T546A

PubMed Link: 34439371

Variant Present in the following documents:

• Main text
• cancers-13-04219.pdf

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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: BRAF: 1636A>G; T546A

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: BRAF: 1636A>G; Thr546Ala

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

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Surgical therapy and next-generation sequencing-based genetic alteration analysis of malignant solitary fibrous tumor of the pleura.

Oncotargets And Therapy

Song, Zuoqing Z; Yang, Fan F; Zhang, Yingguo Y; Fan, Ping P; Liu, Guowei G; Li, Chao C; Ding, Wansheng W; Zhang, Yulong Y; Xu, Xiaohong X; Ye, Yancheng Y

Publication Date: 2018

Variant appearance in text: BRAF: T546A

PubMed Link: 30214228

Variant Present in the following documents:

• ott-11-5227.pdf

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Genetic and transcriptional evolution alters cancer cell line drug response.

Nature

Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR

Publication Date: 2018-08

Variant appearance in text: BRAF: 1636A>G; T546A

PubMed Link: 30089904

Variant Present in the following documents:

• NIHMS977514-supplement-Sup_Table_10.xlsx, sheet 1
• NIHMS977514-supplement-Sup_Table_5.xlsx, sheet 1
• NIHMS977514-supplement-Sup_Table_23.xlsx, sheet 1

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Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget

Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S

Publication Date: 2014-11-15

Variant appearance in text: BRAF: 1636A>G; T546A

PubMed Link: 25347344

Variant Present in the following documents:

• oncotarget-05-10596-s002.xlsx, sheet 4

View BVdb publication page

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