PIK3CA c.3139C>T ;(p.H1047Y)

Variant ID: 3-178952084-C-T

NM_006218.2(PIK3CA):c.3139C>T;(p.H1047Y)

This variant was identified in 332 publications

View GRCh38 version.




Publications:


Characterization of p38α autophosphorylation inhibitors that target the non-canonical activation pathway.

Nature Communications
González, Lorena L; Díaz, Lucía L; Pous, Joan J; Baginski, Blazej B; Duran-Corbera, Anna A; Scarpa, Margherita M; Brun-Heath, Isabelle I; Igea, Ana A; Martin-Malpartida, Pau P; Ruiz, Lidia L; Pallara, Chiara C; Esguerra, Mauricio M; Colizzi, Francesco F; Mayor-Ruiz, Cristina C; Biondi, Ricardo M RM; Soliva, Robert R; Macias, Maria J MJ; Orozco, Modesto M; Nebreda, Angel R AR
Publication Date: 2023-06-12

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 37308482
Variant Present in the following documents:
  • 41467_2023_39051_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Identification of ARUK2002821 as an isoform-selective PI5P4Kα inhibitor.

Rsc Medicinal Chemistry
Willems, Henriëtte M G HMG; Edwards, Simon S; Boffey, Helen K HK; Chawner, Stephen J SJ; Green, Christopher C; Romero, Tamara T; Winpenny, David D; Skidmore, John J; Clarke, Jonathan H JH; Andrews, Stephen P SP
Publication Date: 2023-05-25

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 37252102
Variant Present in the following documents:
  • MD-014-D3MD00039G-s001.pdf
View BVdb publication page



The Role of Biomarkers in Guiding Clinical Decision-Making in Oncology.

Journal Of The Advanced Practitioner In Oncology
Moore, Donald C DC; Guinigundo, Andrew S AS
Publication Date: 2023-04

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 37206905
Variant Present in the following documents:
  • Main text
  • jadpro-14-15.pdf
View BVdb publication page



Multiple PIK3CA mutation clonality correlates with outcomes in taselisib + fulvestrant-treated ER+/HER2-, PIK3CA-mutated breast cancers.

Genome Medicine
Hutchinson, Katherine E KE; Chen, Jessica W JW; Savage, Heidi M HM; Stout, Thomas J TJ; Schimmoller, Frauke F; Cortés, Javier J; Dent, Susan S; Harbeck, Nadia N; Jacot, William W; Krop, Ian I; Trabucco, Sally E SE; Sivakumar, Smruthy S; Sokol, Ethan S ES; Wilson, Timothy R TR
Publication Date: 2023-04-26

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 37101291
Variant Present in the following documents:
  • 13073_2023_1181_MOESM1_ESM.pdf
View BVdb publication page



Discovery of a Potent and Selective CDKL5/GSK3 Chemical Probe That Is Neuroprotective.

Acs Chemical Neuroscience
Ong, Han Wee HW; Liang, Yi Y; Richardson, William W; Lowry, Emily R ER; Wells, Carrow I CI; Chen, Xiangrong X; Silvestre, Margaux M; Dempster, Kelvin K; Silvaroli, Josie A JA; Smith, Jeffery L JL; Wichterle, Hynek H; Pabla, Navjot S NS; Ultanir, Sila K SK; Bullock, Alex N AN; Drewry, David H DH; Axtman, Alison D AD
Publication Date: 2023-04-21

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 37084253
Variant Present in the following documents:
  • cn3c00135_si_001.pdf
View BVdb publication page



Tracking early lung cancer metastatic dissemination in TRACERx using ctDNA.

Nature
Abbosh, Christopher C; Frankell, Alexander M AM; Harrison, Thomas T; Kisistok, Judit J; Garnett, Aaron A; Johnson, Laura L; Veeriah, Selvaraju S; Moreau, Mike M; Chesh, Adrian A; Chaunzwa, Tafadzwa L TL; Weiss, Jakob J; Schroeder, Morgan R MR; Ward, Sophia S; Grigoriadis, Kristiana K; Shahpurwalla, Aamir A; Litchfield, Kevin K; Puttick, Clare C; Biswas, Dhruva D; Karasaki, Takahiro T; Black, James R M JRM; Martínez-Ruiz, Carlos C; Bakir, Maise Al MA; Pich, Oriol O; Watkins, Thomas B K TBK; Lim, Emilia L EL; Huebner, Ariana A; Moore, David A DA; Godin-Heymann, Nadia N; L'Hernault, Anne A; Bye, Hannah H; Odell, Aaron A; Roberts, Paula P; Gomes, Fabio F; Patel, Akshay J AJ; Manzano, Elizabeth E; Hiley, Crispin T CT; Carey, Nicolas N; Riley, Joan J; Cook, Daniel E DE; Hodgson, Darren D; Stetson, Daniel D; Barrett, J Carl JC; Kortlever, Roderik M RM; Evan, Gerard I GI; Hackshaw, Allan A; Daber, Robert D RD; Shaw, Jacqui A JA; Aerts, Hugo J W L HJWL; Licon, Abel A; Stahl, Josh J; Jamal-Hanjani, Mariam M; , ; Birkbak, Nicolai J NJ; McGranahan, Nicholas N; Swanton, Charles C
Publication Date: 2023-04-13

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 37055640
Variant Present in the following documents:
  • EMS176197-supplement-Supplementary_Table_1.xlsx, sheet 18
View BVdb publication page



Discovery of an In Vivo Chemical Probe for BCL6 Inhibition by Optimization of Tricyclic Quinolinones.

Journal Of Medicinal Chemistry
Harnden, Alice C AC; Davis, Owen A OA; Box, Gary M GM; Hayes, Angela A; Johnson, Louise D LD; Henley, Alan T AT; de Haven Brandon, Alexis K AK; Valenti, Melanie M; Cheung, Kwai-Ming J KJ; Brennan, Alfie A; Huckvale, Rosemary R; Pierrat, Olivier A OA; Talbot, Rachel R; Bright, Michael D MD; Akpinar, Hafize Aysin HA; Miller, Daniel S J DSJ; Tarantino, Dalia D; Gowan, Sharon S; de Klerk, Selby S; McAndrew, Peter Craig PC; Le Bihan, Yann-Vaï YV; Meniconi, Mirco M; Burke, Rosemary R; Kirkin, Vladimir V; van Montfort, Rob L M RLM; Raynaud, Florence I FI; Rossanese, Olivia W OW; Bellenie, Benjamin R BR; Hoelder, Swen S
Publication Date: 2023-04-07

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 37026591
Variant Present in the following documents:
  • jm3c00155_si_002.xlsx, sheet 2
View BVdb publication page



Deep Annotation of Donated Chemical Probes (DCP) in Organotypic Human Liver Cultures and Patient-Derived Organoids from Tumor and Normal Colorectum.

Acs Chemical Biology
Tredup, Claudia C; Ndreshkjana, Benardina B; Schneider, Natalie S NS; Tjaden, Amelie A; Kemas, Aurino M AM; Youhanna, Sonia S; Lauschke, Volker M VM; Berger, Benedict-Tilman BT; Krämer, Andreas A; Berger, Lena M LM; Röhm, Sandra S; Knapp, Stefan S; Farin, Henner F HF; Müller, Susanne S
Publication Date: 2023-03-21

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 36944371
Variant Present in the following documents:
  • cb2c00877_si_002.xlsx, sheet 1
  • cb2c00877_si_004.xlsx, sheet 1
View BVdb publication page



Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: PIK3CA: 3139C>T; His1047Tyr; rs121913281
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
  • crc-22-0136-s01.xlsx, sheet 3
View BVdb publication page



Clinical Circulating Tumor DNA testing for Precision Oncology.

Cancer Research And Treatment
Kim, Hyunji H; Park, Kyoung Un KU
Publication Date: 2023-03-13

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 36915242
Variant Present in the following documents:
  • crt-2022-1026.pdf
View BVdb publication page



Genomics-Driven Precision Medicine in Pediatric Solid Tumors.

Cancers
Suthapot, Praewa P; Chiangjong, Wararat W; Chaiyawat, Parunya P; Choochuen, Pongsakorn P; Pruksakorn, Dumnoensun D; Sangkhathat, Surasak S; Hongeng, Suradej S; Anurathapan, Usanarat U; Chutipongtanate, Somchai S
Publication Date: 2023-02-23

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 36900212
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation of the anti-tumor mechanism of tirabrutinib, a highly selective Bruton's tyrosine kinase inhibitor, by phosphoproteomics and transcriptomics.

Plos One
Kozaki, Ryohei R; Yasuhiro, Tomoko T; Kato, Hikaru H; Murai, Jun J; Hotta, Shingo S; Ariza, Yuko Y; Sakai, Shunsuke S; Fujikawa, Ryu R; Yoshida, Takao T
Publication Date: 2023

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 36897912
Variant Present in the following documents:
  • pone.0282166.s009.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PIK3CA: 3139C>T; His1047Tyr
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Pan-cancer clinical impact of latent drivers from double mutations.

Communications Biology
Yavuz, Bengi Ruken BR; Tsai, Chung-Jung CJ; Nussinov, Ruth R; Tuncbag, Nurcan N
Publication Date: 2023-02-20

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 36808143
Variant Present in the following documents:
  • 42003_2023_4519_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: PIK3CA: 3139C>T; His1047Tyr; rs121913281
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: PIK3CA: H1047Y; rs121913281
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_8.xlsx, sheet 1
View BVdb publication page



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: rs121913281
PubMed Link: 36595552
Variant Present in the following documents:
  • pgen.1010563.s004.xlsx, sheet 1
View BVdb publication page



PIK3CAMutations in Breast Cancer Subtypes Other Than HR-Positive/HER2-Negative.

Journal Of Personalized Medicine
Ascione, Liliana L; Zagami, Paola P; Nicolò, Eleonora E; Crimini, Edoardo E; Curigliano, Giuseppe G; Criscitiello, Carmen C
Publication Date: 2022-10-31

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 36579519
Variant Present in the following documents:
  • Main text
  • jpm-12-01793.pdf
View BVdb publication page



Molecular-Targeted Therapy for Tumor-Agnostic Mutations in Acute Myeloid Leukemia.

Biomedicines
Arai, Hironori H; Minami, Yosuke Y; Chi, SungGi S; Utsu, Yoshikazu Y; Masuda, Shinichi S; Aotsuka, Nobuyuki N
Publication Date: 2022-11-22

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 36551764
Variant Present in the following documents:
  • biomedicines-10-03008.pdf
View BVdb publication page



Metastatic colorectal cancer treatment response evaluation by ultra-deep sequencing of cell-free DNA and matched white blood cells.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
van 't Erve, Iris I; Medina, Jamie E JE; Leal, Alessandro A; Papp, Eniko E; Phallen, Jillian J; Adleff, Vilmos V; Chiao, Elaine Jiayuee EJ; Arun, Adith S AS; Bolhuis, Karen K; Simmons, John K JK; Karandikar, Aanavi A; Valkenburg, Kenneth C KC; Sausen, Mark M; Angiuoli, Samuel V SV; Scharpf, Robert B RB; Punt, Cornelis J A CJA; Meijer, Gerrit A GA; Velculescu, Victor E VE; Fijneman, Remond J A RJA
Publication Date: 2022-12-19

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 36534496
Variant Present in the following documents:
  • ccr-22-2538_supplementary_tables_s1-s15_suppts1-ts15.xlsx, sheet 7
View BVdb publication page



An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology
Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y
Publication Date: 2022

Variant appearance in text: PIK3CA: 3139C>T; H1047Y
PubMed Link: 36505399
Variant Present in the following documents:
  • Table_2.xlsx, sheet 2
  • Table_2.xlsx, sheet 3
View BVdb publication page



PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruption.

Science Advances
Ladraa, Sophia S; Zerbib, Lola L; Bayard, Charles C; Fraissenon, Antoine A; Venot, Quitterie Q; Morin, Gabriel G; Garneau, Alexandre P AP; Isnard, Pierre P; Chapelle, Célia C; Hoguin, Clément C; Fraitag, Sylvie S; Duong, Jean-Paul JP; Guibaud, Laurent L; Besançon, Alix A; Kaltenbach, Sophie S; Villarese, Patrick P; Asnafi, Vahid V; Broissand, Christine C; Goudin, Nicolas N; Dussiot, Michael M; Nemazanyy, Ivan I; Viel, Thomas T; Autret, Gwennhael G; Cruciani-Guglielmacci, Céline C; Denom, Jessica J; Bruneau, Julie J; Tavitian, Bertrand B; Legendre, Christophe C; Dairou, Julien J; Lacorte, Jean-Marc JM; Levy, Pacifique P; Pende, Mario M; Polak, Michel M; Canaud, Guillaume G
Publication Date: 2022-12-09

Variant appearance in text: PIK3CA: 3139C>T
PubMed Link: 36490341
Variant Present in the following documents:
  • Main text
  • sciadv.ade7823.pdf
View BVdb publication page



Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.

Nature Communications
Sivakumar, Smruthy S; Jin, Dexter X DX; Tukachinsky, Hanna H; Murugesan, Karthikeyan K; McGregor, Kimberly K; Danziger, Natalie N; Pavlick, Dean D; Gjoerup, Ole O; Ross, Jeffrey S JS; Harmon, Robert R; Chung, Jon J; Decker, Brennan B; Dennis, Lucas L; Frampton, Garrett M GM; Molinero, Luciana L; Oesterreich, Steffi S; Venstrom, Jeffrey M JM; Oxnard, Geoffrey R GR; Hegde, Priti S PS; Sokol, Ethan S ES
Publication Date: 2022-12-05

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 36470901
Variant Present in the following documents:
  • 41467_2022_35245_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



Development of a multiplex allele-specific qPCR approach for testing PIK3CA mutations in patients with colorectal cancer.

Heliyon
Oscorbin, Igor P IP; Beginyazova, Oguljan P OP; Khlistun, Inna V IV; Shamovskaya, Darya V DV; Oskina, Natalia A NA; Filipenko, Maxim L ML
Publication Date: 2022-11

Variant appearance in text: PIK3CA: 3139C>T
PubMed Link: 36468132
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Precision medicine in the real-world setting. Clinical activity of talazoparib in a woman with hormone receptor-positive HER2-negative metastatic breast cancer with pathogenic mutation in somatic BRCA2.

Ecancermedicalscience
Narváez, Dana D; Waisberg, Federico F; Soulé, Tomás T; Angel, Martín M; Bruno, Luisina L; Girotti, Maria Romina MR; Pupareli, Carmen C; Chacón, Matías M; Petracci, Fernando E FE
Publication Date: 2022

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 36405946
Variant Present in the following documents:
  • Main text
  • can-16-1448.pdf
View BVdb publication page



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: PIK3CA: H1047Y
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



VIP152 is a selective CDK9 inhibitor with pre-clinical in vitro and in vivo efficacy in chronic lymphocytic leukemia.

Leukemia
Sher, Steven S; Whipp, Ethan E; Walker, Janek J; Zhang, Pu P; Beaver, Larry L; Williams, Katie K; Orwick, Shelley S; Ravikrishnan, Janani J; Walker, Brandi B; Perry, Elizabeth E; Gregory, Charles C; Purcell, Matthew M; Pan, Alexander A; Yan, Pearlly P; Alinari, Lapo L; Johnson, Amy J AJ; Frigault, Melanie M MM; Greer, Joy M JM; Hamdy, Ahmed A; Izumi, Raquel R; Mo, Xiaokui X; Sampath, Deepa D; Woyach, Jennifer J; Blachly, James J; Byrd, John C JC; Lapalombella, Rosa R
Publication Date: 2022-11-14

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 36376377
Variant Present in the following documents:
  • 41375_2022_1758_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: PIK3CA: 3139C>T; His1047Tyr
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: PIK3CA: 3139C>T; H1047Y
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Biology and targetability of the extended spectrum of PIK3CA mutations (PIK3CAm) detected in breast carcinoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Rugo, Hope S HS; Raskina, Kira K; Schrock, Alexa B AB; Madison, Russell W RW; Graf, Ryon P RP; Sokol, Ethan S ES; Sivakumar, Smruthy S SS; Lee, Jessica K JK; Fisher, Virginia V; Oxnard, Geoffrey R GR; Tukachinsky, Hanna H
Publication Date: 2022-11-02

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 36321996
Variant Present in the following documents:
  • Main text
  • 1056.pdf
View BVdb publication page



Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Cancer Research Communications
Ghezelayagh, Talayeh S TS; Kohrn, Brendan F BF; Fredrickson, Jeanne J; Manhardt, Enna E; Radke, Marc R MR; Katz, Ronit R; Gray, Heidi J HJ; Urban, Renata R RR; Pennington, Kathryn P KP; Liao, John B JB; Doll, Kemi M KM; Simons, Elise J EJ; Burzawa, Jennifer K JK; Goff, Barbara A BA; Speiser, Paul P; Swisher, Elizabeth M EM; Norquist, Barbara M BM; Risques, Rosa Ana RA
Publication Date: 2022-10

Variant appearance in text: PIK3CA: 3139C>T; H1047Y
PubMed Link: 36311816
Variant Present in the following documents:
  • crc-22-0314-s02.xlsx, sheet 6
View BVdb publication page



Clinical Response to PI3K-α Inhibition in a Cohort of Children and Adults With PIK3CA-Related Overgrowth Spectrum Disorders.

Journal Of Vascular Anomalies
Raghavendran, Prashant P; Albers, Sharon E SE; Phillips, James D JD; Zarnegar-Lumley, Sara S; Borst, Alexandra J AJ
Publication Date: 2022-03

Variant appearance in text: PIK3CA: 3139C>T
PubMed Link: 36284525
Variant Present in the following documents:
  • Main text
  • nihms-1842971.pdf
View BVdb publication page



Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Pathobiology : Journal Of Immunopathology, Molecular And Cellular Biology
Haefliger, Simon S; Marston, Katharina K; Alborelli, Ilaria I; Stauffer, Edouard-Jean EJ; Gugger, Mathias M; Jermann, Philip M PM; Hoeller, Sylvia S; Tornillo, Luigi L; Terracciano, Luigi M LM; Bihl, Michel M; Matter, Matthias S MS
Publication Date: 2022-10-06

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 36202073
Variant Present in the following documents:
  • pat-0090-0166-s01.pdf
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: PIK3CA: 3139C>T; H1047Y
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Designing Novel BCR-ABL Inhibitors for Chronic Myeloid Leukemia with Improved Cardiac Safety.

Journal Of Medicinal Chemistry
Pandrala, Mallesh M; Bruyneel, Arne Antoon N AAN; Hnatiuk, Anna P AP; Mercola, Mark M; Malhotra, Sanjay V SV
Publication Date: 2022-08-25

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 35944901
Variant Present in the following documents:
  • jm1c01853_si_003.xlsx, sheet 1
View BVdb publication page



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: PIK3CA: 3139C>T; H1047Y; rs121913281
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Mutational landscape of pan-cancer patients with PIK3CA alterations in Chinese population.

Bmc Medical Genomics
Huang, Qingfeng Q; Zhou, Yang Y; Wang, Bowen B; Zhao, Yi Y; Zhang, Fengxia F; Ding, Bowen B
Publication Date: 2022-07-01

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 35778737
Variant Present in the following documents:
  • 12920_2022_Article_1297.pdf
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Reengineering Ponatinib to Minimize Cardiovascular Toxicity.

Cancer Research
Hnatiuk, Anna P AP; Bruyneel, Arne A N AAN; Tailor, Dhanir D; Pandrala, Mallesh M; Dheeraj, Arpit A; Li, Wenqi W; Serrano, Ricardo R; Feyen, Dries A M DAM; Vu, Michelle M MM; Amatya, Prashila P; Gupta, Saloni S; Nakauchi, Yusuke Y; Morgado, Isabel I; Wiebking, Volker V; Liao, Ronglih R; Porteus, Matthew H MH; Majeti, Ravindra R; Malhotra, Sanjay V SV; Mercola, Mark M
Publication Date: 2022-08-03

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 35763671
Variant Present in the following documents:
  • can-21-3652_supplementary_table_s1_suppst1.xls, sheet 2
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Anthracycline-Free Neoadjuvant Treatment in Patients with HER2-Positive Breast Cancer: Real-Life Use of Pertuzumab, Trastuzumab and Taxanes Association with an Exploratory Analysis of PIK3CA Mutational Status.

Cancers
Irelli, Azzurra A; Parisi, Alessandro A; D'Orazio, Carla C; Sidoni, Tina T; Rotondaro, Silvia S; Patruno, Leonardo L; Pavese, Francesco F; Bafile, Alberto A; Resta, Valter V; Pizzorno, Laura L; Ciuffetelli, Virginia V; Dal Mas, Antonella A; Calvisi, Giuseppe G; Di Sibio, Alessandra A; Marzullo, Anna A; Zelli, Veronica V; Compagnoni, Chiara C; Tessitore, Alessandra A; Alesse, Edoardo E; Ficorella, Corrado C; Cortellini, Alessio A; Cannita, Katia K
Publication Date: 2022-06-18

Variant appearance in text: PIK3CA: 3139C>T
PubMed Link: 35740668
Variant Present in the following documents:
  • cancers-14-03003.pdf
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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
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Improved Binding Affinity and Pharmacokinetics Enable Sustained Degradation of BCL6 In Vivo.

Journal Of Medicinal Chemistry
Huckvale, Rosemary R; Harnden, Alice C AC; Cheung, Kwai-Ming J KJ; Pierrat, Olivier A OA; Talbot, Rachel R; Box, Gary M GM; Henley, Alan T AT; de Haven Brandon, Alexis K AK; Hallsworth, Albert E AE; Bright, Michael D MD; Akpinar, Hafize Aysin HA; Miller, Daniel S J DSJ; Tarantino, Dalia D; Gowan, Sharon S; Hayes, Angela A; Gunnell, Emma A EA; Brennan, Alfie A; Davis, Owen A OA; Johnson, Louise D LD; de Klerk, Selby S; McAndrew, Craig C; Le Bihan, Yann-Vaï YV; Meniconi, Mirco M; Burke, Rosemary R; Kirkin, Vladimir V; van Montfort, Rob L M RLM; Raynaud, Florence I FI; Rossanese, Olivia W OW; Bellenie, Benjamin R BR; Hoelder, Swen S
Publication Date: 2022-06-23

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 35653645
Variant Present in the following documents:
  • jm1c02175_si_002.xlsx, sheet 2
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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: PIK3CA: 3139C>T; H1047Y
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
View BVdb publication page



Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Cancer Medicine
Gan, Meifu M; Zhang, Chen C; Qiu, Liqing L; Wang, Yue Y; Bao, Hua H; Yu, Ruoying R; Liu, Rui R; Wu, Xue X; Shao, Yang Y; Hou, Peifeng P; Fei, Zhenglei Z
Publication Date: 2022-11

Variant appearance in text: PIK3CA: 3139C>T; H1047Y
PubMed Link: 35586877
Variant Present in the following documents:
  • CAM4-11-4070-s004.xlsx, sheet 1
View BVdb publication page



Mutational landscape of normal epithelial cells in Lynch Syndrome patients.

Nature Communications
Lee, Bernard C H BCH; Robinson, Philip S PS; Coorens, Tim H H THH; Yan, Helen H N HHN; Olafsson, Sigurgeir S; Lee-Six, Henry H; Sanders, Mathijs A MA; Siu, Hoi Cheong HC; Hewinson, James J; Yue, Sarah S K SSK; Tsui, Wai Yin WY; Chan, Annie S Y ASY; Chan, Anthony K W AKW; Ho, Siu Lun SL; Campbell, Peter J PJ; Martincorena, Inigo I; Buczacki, Simon J A SJA; Yuen, Siu Tsan ST; Leung, Suet Yi SY; Stratton, Michael R MR
Publication Date: 2022-05-17

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 35581206
Variant Present in the following documents:
  • 41467_2022_29920_MOESM3_ESM.xlsx, sheet 7
  • 41467_2022_29920_MOESM3_ESM.xlsx, sheet 4
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Analysis of PIK3CA Mutation Concordance and Frequency in Primary and Different Distant Metastatic Sites in Breast Cancer.

Cancer Research And Treatment
Park, Jieun J; Cho, Soo Youn SY; Chang, Eun Sol ES; Sung, Minjung M; Song, Ji-Young JY; Jung, Kyungsoo K; Kim, Sung-Su SS; Shin, Young Kee YK; Choi, Yoon-La YL
Publication Date: 2022-04-20

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 35468270
Variant Present in the following documents:
  • Main text
  • crt-2022-001.pdf
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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: 3139C>T; H1047Y
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



Covalent Proximity Scanning of a Distal Cysteine to Target PI3Kα.

Journal Of The American Chemical Society
Borsari, Chiara C; Keles, Erhan E; McPhail, Jacob A JA; Schaefer, Alexander A; Sriramaratnam, Rohitha R; Goch, Wojciech W; Schaefer, Thorsten T; De Pascale, Martina M; Bal, Wojciech W; Gstaiger, Matthias M; Burke, John E JE; Wymann, Matthias P MP
Publication Date: 2022-04-13

Variant appearance in text: PI3K: H1047Y
PubMed Link: 35353516
Variant Present in the following documents:
  • ja1c13568_si_001.pdf
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Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Molecular Medicine (Cambridge, Mass.)
Seo, Go Hun GH; Lee, Hane H; Lee, Jungsul J; Han, Heonjong H; Cho, You Kyung YK; Kim, Minji M; Choi, Yunha Y; Choi, Jeongmin J; Choi, In Hee IH; Rhie, Seonkyeong S; Chae, Kyu Young KY; Kim, Yoo-Mi YM; Cheon, Chong Kun CK; Kim, Su Jin SJ; Lee, Jieun J; Kang, Eungu E; Byeon, Jung Hye JH; Yu, Hee Joon HJ; Shin, Young-Lim YL; Oh, Arum A; Kim, Woo Jin WJ; Yum, Mi-Sun MS; Lee, Beom Hee BH; Eun, Baik-Lin BL
Publication Date: 2022-03-26

Variant appearance in text: PIK3CA: 3139C>T; His1047Tyr
PubMed Link: 35346031
Variant Present in the following documents:
  • 10020_2022_464_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and analytical validation of FoundationOne®CDx, a comprehensive genomic profiling assay for solid tumors.

Plos One
Milbury, Coren A CA; Creeden, James J; Yip, Wai-Ki WK; Smith, David L DL; Pattani, Varun V; Maxwell, Kristi K; Sawchyn, Bethany B; Gjoerup, Ole O; Meng, Wei W; Skoletsky, Joel J; Concepcion, Alvin D AD; Tang, Yanhua Y; Bai, Xiaobo X; Dewal, Ninad N; Ma, Pei P; Bailey, Shannon T ST; Thornton, James J; Pavlick, Dean C DC; Frampton, Garrett M GM; Lieber, Daniel D; White, Jared J; Burns, Christine C; Vietz, Christine C
Publication Date: 2022

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 35294956
Variant Present in the following documents:
  • Main text
  • pone.0264138.pdf
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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: PIK3CA: 3139C>T; H1047Y
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Spatiotemporal dynamics of clonal selection and diversification in normal endometrial epithelium.

Nature Communications
Yamaguchi, Manako M; Nakaoka, Hirofumi H; Suda, Kazuaki K; Yoshihara, Kosuke K; Ishiguro, Tatsuya T; Yachida, Nozomi N; Saito, Kyota K; Ueda, Haruka H; Sugino, Kentaro K; Mori, Yutaro Y; Yamawaki, Kaoru K; Tamura, Ryo R; Revathidevi, Sundaramoorthy S; Motoyama, Teiichi T; Tainaka, Kazuki K; Verhaak, Roel G W RGW; Inoue, Ituro I; Enomoto, Takayuki T
Publication Date: 2022-02-17

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 35177608
Variant Present in the following documents:
  • 41467_2022_Article_28568.pdf
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Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
Publication Date: 2022-06

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 35165384
Variant Present in the following documents:
  • NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
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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: rs121913281
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 6
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



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: rs121913281
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 6
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Major Molecular Signaling Pathways in Oral Cancer Associated With Therapeutic Resistance.

Frontiers In Oral Health
Usman, Saima S; Jamal, Ahmad A; Teh, Muy-Teck MT; Waseem, Ahmad A
Publication Date: 2020

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 35047986
Variant Present in the following documents:
  • Main text
  • froh-01-603160.pdf
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Integrative analysis of multi-omics data reveals the heterogeneity and signatures of immune therapy for small cell lung cancer.

Clinical And Translational Medicine
Chen, Yabin Y; Fang, Zhaoyuan Z; Tang, Ying Y; Jin, Yujuan Y; Guo, Chenchen C; Hu, Liang L; Xu, Yang Y; Ma, Xidong X; Gao, Jie J; Xie, Mei M; Zang, Xuelei X; Liu, Sanhong S; Chen, Haiquan H; Thomas, Roman K RK; Xue, Xinying X; Ji, Hongbin H; Chen, Luonan L
Publication Date: 2021-12

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 34923768
Variant Present in the following documents:
  • CTM2-11-e620-s006.xlsx, sheet 2
View BVdb publication page



Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology
Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L
Publication Date: 2021

Variant appearance in text: PIK3CA: 3139C>T; H1047Y
PubMed Link: 34858840
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.

Plos One
Conroy, Jeffrey M JM; Pabla, Sarabjot S; Glenn, Sean T ST; Seager, R J RJ; Van Roey, Erik E; Gao, Shuang S; Burgher, Blake B; Andreas, Jonathan J; Giamo, Vincent V; Mallon, Melissa M; Lee, Yong Hee YH; DePietro, Paul P; Nesline, Mary M; Wang, Yirong Y; Lenzo, Felicia L FL; Klein, Roger R; Zhang, Shengle S
Publication Date: 2021

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 34855780
Variant Present in the following documents:
  • Main text
  • pone.0260089.pdf
View BVdb publication page



A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.

Plos One
Conroy, Jeffrey M JM; Pabla, Sarabjot S; Glenn, Sean T ST; Seager, R J RJ; Van Roey, Erik E; Gao, Shuang S; Burgher, Blake B; Andreas, Jonathan J; Giamo, Vincent V; Mallon, Melissa M; Lee, Yong Hee YH; DePietro, Paul P; Nesline, Mary M; Wang, Yirong Y; Lenzo, Felicia L FL; Klein, Roger R; Zhang, Shengle S
Publication Date: 2021

Variant appearance in text: PIK3CA: H1047Y
PubMed Link: 34855780
Variant Present in the following documents:
  • Main text
  • pone.0260089.pdf
View BVdb publication page