Publications:

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Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Frontiers In Genetics

Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X

Publication Date: 2022

Variant appearance in text: PI3K: 3142C>T

PubMed Link: 36386804

Variant Present in the following documents:

• Table1.xls, sheet 3

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Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: PIK3CA: 3142C>T; H1048Y

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

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Genetic Analysis and Targeted Therapy Using Buparlisib and MK2206 in a Patient with Triple Metachronous Cancers of the Kidney, Prostate, and Squamous Cell Carcinoma of the Lung: A Case Report.

Oncotargets And Therapy

Zhao, Tong T; Tian, Yuqin Y; Ding, Xinjia X; Liu, Lin L; Tan, Bowen B; Yang, Bin B; Wu, Jianlin J; Lei, Ting T; Wang, Ruoyu R; Ding, Yan Y

Publication Date: 2021

Variant appearance in text: PIK3CA: 3142C>T

PubMed Link: 33953569

Variant Present in the following documents:

• Main text

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: PIK3CA: 3142C>T; H1048Y

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer

Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F

Publication Date: 2020

Variant appearance in text: PIK3CA: 3142C>T; H1048Y

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Targeting phosphoinositide 3-kinase (PI3K) in head and neck squamous cell carcinoma (HNSCC).

Cancers Of The Head & Neck

Jung, Kyungsuk K; Kang, Hyunseok H; Mehra, Ranee R

Publication Date: 2018

Variant appearance in text: PI3K: H1048Y

PubMed Link: 31093356

Variant Present in the following documents:

• Main text
• 41199_2018_Article_30.pdf

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Simultaneous identification of clinically relevant single nucleotide variants, copy number alterations and gene fusions in solid tumors by targeted next-generation sequencing.

Oncotarget

Oliveira, Duarte Mendes DM; Mirante, Teresa T; Mignogna, Chiara C; Scrima, Marianna M; Migliozzi, Simona S; Rocco, Gaetano G; Franco, Renato R; Corcione, Francesco F; Viglietto, Giuseppe G; Malanga, Donatella D; Rizzuto, Antonia A

Publication Date: 2018-04-27

Variant appearance in text: PIK3CA: H1048Y

PubMed Link: 29854313

Variant Present in the following documents:

• Main text
• oncotarget-09-22749.pdf

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: PIK3CA: H1048Y

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 1
• pone.0196434.s001.xlsx, sheet 2

View BVdb publication page

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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: H1048Y

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research

Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U

Publication Date: 2017-04

Variant appearance in text: PIK3CA: 3142C>T; H1048Y

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

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