Publications:

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ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics

Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G

Publication Date: 2023-01-03

Variant appearance in text: rs121913275

PubMed Link: 36595552

Variant Present in the following documents:

• pgen.1010563.s004.xlsx, sheet 1

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs121913275

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 5

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs121913275

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs121913275

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

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Therapeutic Potential of CUDC-907 (Fimepinostat) for Hepatocarcinoma Treatment Revealed by Tumor Spheroids-Based Drug Screening.

Frontiers In Pharmacology

Liao, Wei W; Yang, Wanren W; Xu, Jiecheng J; Yan, Zhengming Z; Pan, Mingxin M; Xu, Xiaoping X; Zhou, Shuqin S; Zhu, Yu Y; Lan, Jianqiang J; Zeng, Min M; Han, Xu X; Li, Shao S; Li, Yang Y; Liang, Kangyan K; Gao, Yi Y; Peng, Qing Q

Publication Date: 2021

Variant appearance in text: rs121913275

PubMed Link: 34776939

Variant Present in the following documents:

• Main text
• fphar-12-658197.pdf

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: PIK3CA: E545E

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: PIK3CA: E545=

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

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The Spectrum, Tendency and Predictive Value of PIK3CA Mutation in Chinese Colorectal Cancer Patients.

Frontiers In Oncology

Fu, Xinhui X; Lin, Hanjie H; Fan, Xinjuan X; Zhu, Yaxi Y; Wang, Chao C; Chen, Zhiting Z; Tan, Xiaoli X; Huang, Jinglin J; Cai, Yacheng Y; Huang, Yan Y

Publication Date: 2021

Variant appearance in text: PIK3CA: 1635G>A; E545E

PubMed Link: 33842311

Variant Present in the following documents:

• Main text
• fonc-11-595675.pdf

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs121913275

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: PIK3CA: E545=

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

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Helical and kinase domain mutations of PIK3CA, and their association with hormone receptor expression in breast cancer.

Oncology Letters

Vatte, Chittibabu C; Al Amri, Ali Mohammed AM; Cyrus, Cyril C; Chathoth, Shahanas S; Alsayyah, Ahmed A; Ahmad, Arafat A; Akhtar, Mohammed Shakil MS; Alrashidi, Nada Fehaid NF; Jayaseeli, Nithya N; Al Wadani, Hamed H; Al Zahrani, Alhussain A; Al Ali, Amein Kadhem AK

Publication Date: 2019-09

Variant appearance in text: PIK3CA: E545E

PubMed Link: 31404155

Variant Present in the following documents:

• Main text
• ol-18-03-2427.pdf

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Unraveling the etiology of primary malignant melanoma of the esophagus.

Journal Of Thoracic Disease

Krauthammer, Michael M

Publication Date: 2018-04

Variant appearance in text: PIK3CA: E545E

PubMed Link: 29850187

Variant Present in the following documents:

• Main text

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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: E545E

PubMed Link: 29698444

Variant Present in the following documents:

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

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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: N/A

PubMed Link: 28492226

Variant Present in the following documents:

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Identification of Variant-Specific Functions of PIK3CA by Rapid Phenotyping of Rare Mutations.

Cancer Research

Dogruluk, Turgut T; Tsang, Yiu Huen YH; Espitia, Maribel M; Chen, Fengju F; Chen, Tenghui T; Chong, Zechen Z; Appadurai, Vivek V; Dogruluk, Armel A; Eterovic, Agna Karina AK; Bonnen, Penelope E PE; Creighton, Chad J CJ; Chen, Ken K; Mills, Gordon B GB; Scott, Kenneth L KL

Publication Date: 2015-12-15

Variant appearance in text: PIK3CA: E545E

PubMed Link: 26627007

Variant Present in the following documents:

• Main text

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Single copies of mutant KRAS and mutant PIK3CA cooperate in immortalized human epithelial cells to induce tumor formation.

Cancer Research

Wang, Grace M GM; Wong, Hong Yuen HY; Konishi, Hiroyuki H; Blair, Brian G BG; Abukhdeir, Abde M AM; Gustin, John P JP; Rosen, D Marc DM; Denmeade, Samuel Ray SR; Rasheed, Zeshaan Z; Matsui, William W; Garay, Joseph P JP; Mohseni, Morassa M; Higgins, Michaela J MJ; Cidado, Justin J; Jelovac, Danijela D; Croessmann, Sarah S; Cochran, Rory L RL; Karnan, Sivasundaram S; Konishi, Yuko Y; Ota, Akinobu A; Hosokawa, Yoshitaka Y; Argani, Pedram P; Lauring, Josh J; Park, Ben Ho BH

Publication Date: 2013-06-01

Variant appearance in text: PIK3CA: E545E

PubMed Link: 23580570

Variant Present in the following documents:

• Main text

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PI3K p110α/Akt signaling negatively regulates secretion of the intestinal peptide neurotensin through interference of granule transport.

Molecular Endocrinology (Baltimore, Md.)

Li, Jing J; Song, Jun J; Cassidy, Margaret G MG; Rychahou, Piotr P; Starr, Marlene E ME; Liu, Jianyu J; Li, Xin X; Epperly, Garretson G; Weiss, Heidi L HL; Townsend, Courtney M CM; Gao, Tianyan T; Evers, B Mark BM

Publication Date: 2012-08

Variant appearance in text: PI3K: E545E

PubMed Link: 22700584

Variant Present in the following documents:

• Main text

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