Publications:

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Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Human Molecular Genetics

Yngvadottir, Bryndis B; Andreou, Avgi A; Bassaganyas, Laia L; Larionov, Alexey A; Cornish, Alex J AJ; Chubb, Daniel D; Saunders, Charlie N CN; Smith, Philip S PS; Zhang, Huairen H; Cole, Yasemin Y; Research Consortium, Genomics England GE; Larkin, James J; Browning, Lisa L; Turajlic, Samra S; Litchfield, Kevin K; Houlston, Richard S RS; Maher, Eamonn R ER

Publication Date: 2022-08-25

Variant appearance in text: TSC2: 292C>T; Arg98Trp; rs372321790

PubMed Link: 35441217

Variant Present in the following documents:

• hmg_supplementary_tables_1_2_5_6_revised_ddac089.xlsx, sheet 2

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Complementary Sequential Circulating Tumor Cell (CTC) and Cell-Free Tumor DNA (ctDNA) Profiling Reveals Metastatic Heterogeneity and Genomic Changes in Lung Cancer and Breast Cancer.

Frontiers In Oncology

Kong, Say Li SL; Liu, Xingliang X; Tan, Swee Jin SJ; Tai, Joyce A JA; Phua, Ler Yee LY; Poh, Huay Mei HM; Yeo, Trifanny T; Chua, Yong Wei YW; Haw, Yu Xuan YX; Ling, Wen Huan WH; Ng, Raymond Chee Hui RCH; Tan, Tira J TJ; Loh, Kiley Wei Jen KWJ; Tan, Daniel Shao-Weng DS; Ng, Quan Sing QS; Ang, Mei Kim MK; Toh, Chee Keong CK; Lee, Yi Fang YF; Lim, Chwee Teck CT; Lim, Tony Kiat Hon TKH; Hillmer, Axel M AM; Yap, Yoon Sim YS; Lim, Wan-Teck WT

Publication Date: 2021

Variant appearance in text: TSC2: R98W

PubMed Link: 34336686

Variant Present in the following documents:

• Table_1.xlsx, sheet 8

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: TSC2: R98W

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Integrative -omics and HLA-ligandomics analysis to identify novel drug targets for ccRCC immunotherapy.

Genome Medicine

Reustle, Anna A; Di Marco, Moreno M; Meyerhoff, Carolin C; Nelde, Annika A; Walz, Juliane S JS; Winter, Stefan S; Kandabarau, Siahei S; Büttner, Florian F; Haag, Mathias M; Backert, Linus L; Kowalewski, Daniel J DJ; Rausch, Steffen S; Hennenlotter, Jörg J; Stühler, Viktoria V; Scharpf, Marcus M; Fend, Falko F; Stenzl, Arnulf A; Rammensee, Hans-Georg HG; Bedke, Jens J; Stevanović, Stefan S; Schwab, Matthias M; Schaeffeler, Elke E

Publication Date: 2020-03-30

Variant appearance in text: rs372321790

PubMed Link: 32228647

Variant Present in the following documents:

• 13073_2020_731_MOESM2_ESM.pdf

View BVdb publication page

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Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget

Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P

Publication Date: 2017-12-08

Variant appearance in text: TSC2: R98W

PubMed Link: 29296220

Variant Present in the following documents:

• oncotarget-08-108020-s006.xlsx, sheet 1

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Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.

American Journal Of Human Genetics

Lim, Jae Seok JS; Gopalappa, Ramu R; Kim, Se Hoon SH; Ramakrishna, Suresh S; Lee, Minji M; Kim, Woo-Il WI; Kim, Junho J; Park, Sang Min SM; Lee, Junehawk J; Oh, Jung-Hwa JH; Kim, Heung Dong HD; Park, Chang-Hwan CH; Lee, Joon Soo JS; Kim, Sangwoo S; Kim, Dong Seok DS; Han, Jung Min JM; Kang, Hoon-Chul HC; Kim, Hyongbum Henry HH; Lee, Jeong Ho JH

Publication Date: 2017-03-02

Variant appearance in text: TSC2: 292C>T; rs372321790

PubMed Link: 28215400

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism

Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V

Publication Date: 2013-03-20

Variant appearance in text: TSC2: R98W

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

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A reliable cell-based assay for testing unclassified TSC2 gene variants.

European Journal Of Human Genetics : Ejhg

Coevoets, Ricardo R; Arican, Sermin S; Hoogeveen-Westerveld, Marianne M; Simons, Erik E; van den Ouweland, Ans A; Halley, Dicky D; Nellist, Mark M

Publication Date: 2009-03

Variant appearance in text: TSC2: R98W

PubMed Link: 18854862

Variant Present in the following documents:

• Main text

View BVdb publication page

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