Publications:

Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Plos One

Mittempergher, Lorenza L; Piskorz, Anna M AM; Bosma, Astrid J AJ; Michaut, Magali M; Wisman, G Bea A GBA; Kluin, Roelof J C RJC; Nieuwland, Marja M; Brugman, Wim W; van der Ven, Kevin J W KJW; Marass, Francesco F; Morris, James J; Rosenfeld, Nitzan N; Jimenez-Linan, Mercedes M; de Jong, Steven S; van der Zee, Ate G J AGJ; Brenton, James D JD; Bernards, René R

Publication Date: 2020

Variant appearance in text: PIK3CA: 1658G>A

PubMed Link: 32639993

Variant Present in the following documents:

• pone.0235766.s008.xlsx, sheet 5

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: PI3K: 1658G>A

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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Validation and utilisation of high-coverage next-generation sequencing to deliver the pharmacological audit trail.

British Journal Of Cancer

Ong, M M; Carreira, S S; Goodall, J J; Mateo, J J; Figueiredo, I I; Rodrigues, D N DN; Perkins, G G; Seed, G G; Yap, T A TA; Attard, G G; de Bono, J S JS

Publication Date: 2014-08-26

Variant appearance in text: PIK3CA: S553N

PubMed Link: 24983367

Variant Present in the following documents:

• Main text
• bjc2014350a.pdf

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PIK3CA mutation H1047R is associated with response to PI3K/AKT/mTOR signaling pathway inhibitors in early-phase clinical trials.

Cancer Research

Janku, Filip F; Wheler, Jennifer J JJ; Naing, Aung A; Falchook, Gerald S GS; Hong, David S DS; Stepanek, Vanda M VM; Fu, Siqing S; Piha-Paul, Sarina A SA; Lee, J Jack JJ; Luthra, Rajyalakshmi R; Tsimberidou, Apostolia M AM; Kurzrock, Razelle R

Publication Date: 2013-01-01

Variant appearance in text: PIK3CA: S553N

PubMed Link: 23066039

Variant Present in the following documents:

• Main text

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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: PIK3CA: S553N

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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