Publications:

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: PTEN: L108F

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

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Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Frontiers In Immunology

Georgoulias, George G; Zaravinos, Apostolos A

Publication Date: 2022

Variant appearance in text: PTEN: L108F

PubMed Link: 36389735

Variant Present in the following documents:

• Table_7.xlsx, sheet 13

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: PTEN: 322C>T; L108F

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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PD-L1 targeting and subclonal immune escape mediated by PD-L1 mutations in metastatic colorectal cancer.

Journal For Immunotherapy Of Cancer

Stein, Alexander A; Simnica, Donjete D; Schultheiß, Christoph C; Scholz, Rebekka R; Tintelnot, Joseph J; Gökkurt, Eray E; von Wenserski, Lisa L; Willscher, Edith E; Paschold, Lisa L; Sauer, Markus M; Lorenzen, Sylvie S; Riera-Knorrenschild, Jorge J; Depenbusch, Reinhard R; Ettrich, Thomas J TJ; Dörfel, Steffen S; Al-Batran, Salah-Eddin SE; Karthaus, Meinolf M; Pelzer, Uwe U; Waberer, Lisa L; Hinke, Axel A; Bauer, Marcus M; Massa, Chiara C; Seliger, Barbara B; Wickenhauser, Claudia C; Bokemeyer, Carsten C; Hegewisch-Becker, Susanna S; Binder, Mascha M

Publication Date: 2021-07

Variant appearance in text: PTEN: 322C>T; Leu108Phe

PubMed Link: 34315821

Variant Present in the following documents:

• jitc-2021-002844supp002.xlsx, sheet 1

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: PTEN: 322C>T; L108F

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: PTEN: 322C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: PTEN: L108F

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine

Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-28

Variant appearance in text: PTEN: 322C>T; Leu108Phe

PubMed Link: 31455347

Variant Present in the following documents:

• 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Nature

Miller, Alexandra M AM; Shah, Ronak H RH; Pentsova, Elena I EI; Pourmaleki, Maryam M; Briggs, Samuel S; Distefano, Natalie N; Zheng, Youyun Y; Skakodub, Anna A; Mehta, Smrutiben A SA; Campos, Carl C; Hsieh, Wan-Ying WY; Selcuklu, S Duygu SD; Ling, Lilan L; Meng, Fanli F; Jing, Xiaohong X; Samoila, Aliaksandra A; Bale, Tejus A TA; Tsui, Dana W Y DWY; Grommes, Christian C; Viale, Agnes A; Souweidane, Mark M MM; Tabar, Viviane V; Brennan, Cameron W CW; Reiner, Anne S AS; Rosenblum, Marc M; Panageas, Katherine S KS; DeAngelis, Lisa M LM; Young, Robert J RJ; Berger, Michael F MF; Mellinghoff, Ingo K IK

Publication Date: 2019-01

Variant appearance in text: PTEN: 322C>T; L108F

PubMed Link: 30675060

Variant Present in the following documents:

• NIHMS1516901-supplement-Sup_Table_5.xlsx, sheet 1

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: PTEN: L108F

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 3

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Anti-proliferative and anti-secretory effects of everolimus on human pancreatic neuroendocrine tumors primary cultures: is there any benefit from combination with somatostatin analogs?

Oncotarget

Mohamed, Amira A; Romano, David D; Saveanu, Alexandru A; Roche, Catherine C; Albertelli, Manuela M; Barbieri, Federica F; Brue, Thierry T; Niccoli, Patricia P; Delpero, Jean-Robert JR; Garcia, Stephane S; Ferone, Diego D; Florio, Tullio T; Moutardier, Vincent V; Poizat, Flora F; Barlier, Anne A; Gerard, Corinne C

Publication Date: 2017-06-20

Variant appearance in text: PTEN: 322C>T

PubMed Link: 28454119

Variant Present in the following documents:

• Main text
• oncotarget-08-41044.pdf

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: PTEN: 322C>T; L108F

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

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Extrachromosomal driver mutations in glioblastoma and low-grade glioma.

Nature Communications

Nikolaev, Sergey S; Santoni, Federico F; Garieri, Marco M; Makrythanasis, Periklis P; Falconnet, Emilie E; Guipponi, Michel M; Vannier, Anne A; Radovanovic, Ivan I; Bena, Frederique F; Forestier, Françoise F; Schaller, Karl K; Dutoit, Valerie V; Clement-Schatlo, Virginie V; Dietrich, Pierre-Yves PY; Antonarakis, Stylianos E SE

Publication Date: 2014-12-04

Variant appearance in text: PTEN: L108F

PubMed Link: 25471132

Variant Present in the following documents:

• NIHMS60838-supplement-Supplementary_Data_2.xlsx, sheet 2

View BVdb publication page

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