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: A137V

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

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Combined assay of Circulating Tumor DNA and Protein Biomarkers for early noninvasive detection and prognosis of Non-Small Cell Lung Cancer.

Journal Of Cancer

Yin, Jian-Xin JX; Hu, Wen-Wei WW; Gu, Hua H; Fang, Jian-Min JM

Publication Date: 2021

Variant appearance in text: PTEN: 410C>T; A137V

PubMed Link: 33442424

Variant Present in the following documents:

• jcav12p1258s2.xlsx, sheet 7

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White blood cell and cell-free DNA analyses for detection of residual disease in gastric cancer.

Nature Communications

Leal, Alessandro A; van Grieken, Nicole C T NCT; Palsgrove, Doreen N DN; Phallen, Jillian J; Medina, Jamie E JE; Hruban, Carolyn C; Broeckaert, Mark A M MAM; Anagnostou, Valsamo V; Adleff, Vilmos V; Bruhm, Daniel C DC; Canzoniero, Jenna V JV; Fiksel, Jacob J; Nordsmark, Marianne M; Warmerdam, Fabienne A R M FARM; Verheul, Henk M W HMW; van Spronsen, Dick Johan DJ; Beerepoot, Laurens V LV; Geenen, Maud M MM; Portielje, Johanneke E A JEA; Jansen, Edwin P M EPM; van Sandick, Johanna J; Meershoek-Klein Kranenbarg, Elma E; van Laarhoven, Hanneke W M HWM; van der Peet, Donald L DL; van de Velde, Cornelis J H CJH; Verheij, Marcel M; Fijneman, Remond R; Scharpf, Robert B RB; Meijer, Gerrit A GA; Cats, Annemieke A; Velculescu, Victor E VE

Publication Date: 2020-01-27

Variant appearance in text: PTEN: A137V

PubMed Link: 31988276

Variant Present in the following documents:

• 41467_2020_14310_MOESM6_ESM.xlsx, sheet 9
• 41467_2020_14310_MOESM6_ESM.xlsx, sheet 6
• 41467_2020_14310_MOESM11_ESM.xlsx, sheet 1
• 41467_2020_14310_MOESM8_ESM.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: A137V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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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: A137V

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 2

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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: PTEN: 410C>T; A137V

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s021.xlsx, sheet 1

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: PTEN: A137V

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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