Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: TSC2: A86T; rs1190158836

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc4.xlsx, sheet 1

View BVdb publication page

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Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.

Familial Cancer

Postema, Floor A M FAM; Hopman, Saskia M J SMJ; de Borgie, Corianne A J M CAJM; Aalfs, Cora M CM; Anninga, Jakob K JK; Berger, Lieke P V LPV; Bleeker, Fonnet E FE; Dommering, Charlotte J CJ; van Eijkelenburg, Natasha K A NKA; Hammond, Peter P; van den Heuvel-Eibrink, Marry M MM; Hol, Janna A JA; Kors, Wijnanda A WA; Letteboer, Tom G W TGW; Loeffen, Jan L C M JLCM; Meijer, Lisethe L; Olderode-Berends, Maran J W MJW; Wagner, Anja A; Hennekam, Raoul C RC; Merks, Johannes H M JHM

Publication Date: 2021-10

Variant appearance in text: TSC2: 256G>A

PubMed Link: 33686467

Variant Present in the following documents:

• 10689_2021_Article_237.pdf

View BVdb publication page

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Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.

Familial Cancer

Postema, Floor A M FAM; Hopman, Saskia M J SMJ; de Borgie, Corianne A J M CAJM; Aalfs, Cora M CM; Anninga, Jakob K JK; Berger, Lieke P V LPV; Bleeker, Fonnet E FE; Dommering, Charlotte J CJ; van Eijkelenburg, Natasha K A NKA; Hammond, Peter P; van den Heuvel-Eibrink, Marry M MM; Hol, Janna A JA; Kors, Wijnanda A WA; Letteboer, Tom G W TGW; Loeffen, Jan L C M JLCM; Meijer, Lisethe L; Olderode-Berends, Maran J W MJW; Wagner, Anja A; Hennekam, Raoul C RC; Merks, Johannes H M JHM

Publication Date: 2021-10

Variant appearance in text: TSC2: 256G>A

PubMed Link: 33686467

Variant Present in the following documents:

• 10689_2021_Article_237.pdf

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: TSC2: 256G>A; A86T

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: TSC2: 256G>A; Ala86Thr

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 10

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False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One

Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM

Publication Date: 2019

Variant appearance in text: TSC2: 256G>A; A86T

PubMed Link: 31513681

Variant Present in the following documents:

• pone.0222535.s006.xlsx, sheet 1

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: TSC2: A86T

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 20

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Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications

North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ

Publication Date: 2018-05-14

Variant appearance in text: TSC2: A86T

PubMed Link: 29760388

Variant Present in the following documents:

• 41467_2018_4008_MOESM3_ESM.xlsx, sheet 17

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: TSC2: A86T

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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