PIK3CA c.1930T>C ;(p.Y644H)

Variant ID: 3-178937755-T-C

NM_006218.2(PIK3CA):c.1930T>C;(p.Y644H)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


ErbB signalling is a potential therapeutic target for vascular lesions with fibrous component.

Elife
Jauhiainen, Suvi S; Ilmonen, Henna H; Vuola, Pia P; Rasinkangas, Heta H; Pulkkinen, Heidi H HH; Keränen, Sara S; Kiema, Miika M; Liikkanen, Jade J JJ; Laham Karam, Nihay N; Laidinen, Svetlana S; Beter, Mustafa M; Aavik, Einari E; Lappalainen, Kimmo K; Lohi, Jouko J; Aronniemi, Johanna J; Örd, Tiit T; Kaikkonen, Minna U MU; Salminen, Päivi P; Tukiainen, Erkki E; Ylä-Herttuala, Seppo S; Laakkonen, Johanna P JP
Publication Date: 2023-05-18

Variant appearance in text: PIK3CA: Y644H
PubMed Link: 37199488
Variant Present in the following documents:
  • Main text
  • elife-82543.pdf
View BVdb publication page



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: PIK3CA: Y644H
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 5
  • Table3.xlsx, sheet 1
View BVdb publication page



Monitoring of circulating tumor DNA predicts response to treatment and early progression in follicular lymphoma: results of a prospective pilot study.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Fernández-Miranda, Ismael I; Pedrosa, Lucia L; Llanos, Marta M; Franco, Fernando F FF; Gómez, Sagrario S; Martín-Acosta, Paloma P; García-Arroyo, Francisco R FR; Gumà, Josep J; Horcajo, Beatriz B; Ballesteros, Ana K AK; Gálvez, Laura L; Martínez, Natividad N; Marín, Miguel M; Sequero, Silvia S; Navarro, Marta M; Yanguas-Casás, Natalia N; Calvo, Virginia V; Rueda-Domínguez, Antonio A; Provencio, Mariano M; Sánchez-Beato, Margarita M
Publication Date: 2022-10-21

Variant appearance in text: PIK3CA: Y644H
PubMed Link: 36269794
Variant Present in the following documents:
  • ccr-22-1654_supplementary_data_2_suppds2.xlsx, sheet 6
View BVdb publication page



The Clonal Relationship Between the Ductal and Lobular Components of Mixed Ductal-Lobular Carcinomas Suggested a Ductal Origin in Most Tumors.

The American Journal Of Surgical Pathology
Pérez-Mies, Belén B; Caniego-Casas, Tamara T; Carretero-Barrio, Irene I; Biscuola, Michele M; López-García, María A MA; Hardisson, David D; Rosas, Marta M; López Rodríguez, María J MJ; Cristóbal, Eva E; Pizarro, David D; Rosa-Rosa, Juan M JM; Palacios, José J
Publication Date: 2022-11-01

Variant appearance in text: PIK3CA: Y644H
PubMed Link: 35877198
Variant Present in the following documents:
  • pas-46-1545-s003.xlsx, sheet 1
View BVdb publication page



Hepatoblastomas with carcinoma features represent a biological spectrum of aggressive neoplasms in children and young adults.

Journal Of Hepatology
Sumazin, Pavel P; Peters, Tricia L TL; Sarabia, Stephen F SF; Kim, Hyunjae R HR; Urbicain, Martin M; Hollingsworth, Emporia Faith EF; Alvarez, Karla R KR; Perez, Cintia R CR; Pozza, Alice A; Najaf Panah, Mohammad Javad MJ; Epps, Jessica L JL; Scorsone, Kathy K; Zorman, Barry B; Katzenstein, Howard H; O'Neill, Allison F AF; Meyers, Rebecka R; Tiao, Greg G; Geller, Jim J; Ranganathan, Sarangarajan S; Rangaswami, Arun A AA; Woodfield, Sarah E SE; Goss, John A JA; Vasudevan, Sanjeev A SA; Heczey, Andras A; Roy, Angshumoy A; Fisher, Kevin E KE; Alaggio, Rita R; Patel, Kalyani R KR; Finegold, Milton J MJ; López-Terrada, Dolores H DH
Publication Date: 2022-10

Variant appearance in text: PIK3CA: 1930T>C; Y644H
PubMed Link: 35577029
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



Plasma Circulating Tumor DNA Sequencing Predicts Minimal Residual Disease in Resectable Esophageal Squamous Cell Carcinoma.

Frontiers In Oncology
Liu, Tao T; Yao, Qianqian Q; Jin, Hai H
Publication Date: 2021

Variant appearance in text: PIK3CA: Y644H
PubMed Link: 34094900
Variant Present in the following documents:
  • Main text
  • DataSheet_1.xlsx, sheet 6
  • fonc-11-616209.pdf
View BVdb publication page



Clinical Features and Genomic Characterization of Post-Colonoscopy Colorectal Cancer.

Clinical And Translational Gastroenterology
Tanaka, Hidenori H; Urabe, Yuji Y; Oka, Shiro S; Shimohara, Yasutsugu Y; Nishimura, Tomoyuki T; Inagaki, Katsuaki K; Okamoto, Yuki Y; Matsumoto, Kenta K; Yamashita, Ken K; Sumimoto, Kyoku K; Ninomiya, Yuki Y; Yuge, Ryo R; Tanaka, Shinji S; Chayama, Kazuaki K
Publication Date: 2020-10

Variant appearance in text: PIK3CA: Y644H
PubMed Link: 33031197
Variant Present in the following documents:
  • ct9-11-e00246-s003.xlsx, sheet 1
View BVdb publication page



Differences in the molecular profile of endometrial cancers from British White and British South Asian women.

Plos One
Polymeros, Konstantinos K; Guttery, David S DS; Hew, Roger R; Bishop, Rachael R; Stannard, Elizabeth E; Macip, Salvador S; Symonds, Paul P; Moss, Esther L EL
Publication Date: 2020

Variant appearance in text: PIK3CA: 1930T>C; Y644H
PubMed Link: 32520976
Variant Present in the following documents:
  • pone.0233900.s001.xlsx, sheet 1
View BVdb publication page



Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: PIK3CA: 1930T>C; Tyr644His
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 3
View BVdb publication page



Synchronous endometrioid endometrial and ovarian carcinomas are biologically related: A clinico-pathological and molecular (next generation sequencing) study of 22 cases.

Oncology Letters
Hájková, Nikola N; Tichá, Ivana I; Hojný, Jan J; Němejcová, Kristýna K; Bártů, Michaela M; Michálková, Romana R; Zikán, Michal M; Cibula, David D; Laco, Jan J; Geryk, Tomáš T; Méhes, Gábor G; Dundr, Pavel P
Publication Date: 2019-02

Variant appearance in text: PIK3CA: Y644H
PubMed Link: 30675285
Variant Present in the following documents:
  • Main text
  • ol-17-02-2207.pdf
View BVdb publication page



High Frequency of ERBB2 Activating Mutations in Invasive Lobular Breast Carcinoma with Pleomorphic Features.

Cancers
Rosa-Rosa, Juan Manuel JM; Caniego-Casas, Tamara T; Leskela, Susanna S; Cristobal, Eva E; González-Martínez, Silvia S; Moreno-Moreno, Esther E; López-Miranda, Elena E; Holgado, Esther E; Pérez-Mies, Belén B; Garrido, Pilar P; Palacios, José J
Publication Date: 2019-01-11

Variant appearance in text: PIK3CA: Y644H
PubMed Link: 30641862
Variant Present in the following documents:
  • Main text
  • cancers-11-00074.pdf
View BVdb publication page



Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Heliyon
Deng, Qinfang Q; Xie, Boxiong B; Wu, Leilei L; Ji, Xianxiu X; Li, Chao C; Feng, Li L; Fang, Qiyu Q; Bao, Yuchen Y; Li, Jialu J; Jin, Shengnan S; Ding, Chunming C; Li, Yixue Y; Zhou, Songwen S
Publication Date: 2018-12

Variant appearance in text: PIK3CA: Y644H
PubMed Link: 30603682
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports
Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I
Publication Date: 2018-05-16

Variant appearance in text: PIK3CA: 1930T>C; Y644H; rs17849072
PubMed Link: 29769598
Variant Present in the following documents:
  • 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive screening of target molecules by next-generation sequencing in patients with malignant solid tumors: guiding entry into phase I clinical trials.

Molecular Cancer
Tanabe, Yuko Y; Ichikawa, Hitoshi H; Kohno, Takashi T; Yoshida, Hiroshi H; Kubo, Takashi T; Kato, Mamoru M; Iwasa, Satoru S; Ochiai, Atsushi A; Yamamoto, Noboru N; Fujiwara, Yasuhiro Y; Tamura, Kenji K
Publication Date: 2016-11-16

Variant appearance in text: PIK3CA: Y644H
PubMed Link: 27852271
Variant Present in the following documents:
  • 12943_2016_553_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.

Jci Insight
Huang-Doran, Isabel I; Tomlinson, Patsy P; Payne, Felicity F; Gast, Alexandra A; Sleigh, Alison A; Bottomley, William W; Harris, Julie J; Daly, Allan A; Rocha, Nuno N; Rudge, Simon S; Clark, Jonathan J; Kwok, Albert A; Romeo, Stefano S; McCann, Emma E; Müksch, Barbara B; Dattani, Mehul M; Zucchini, Stefano S; Wakelam, Michael M; Foukas, Lazaros C LC; Savage, David B DB; Murphy, Rinki R; O'Rahilly, Stephen S; Barroso, Inês I; Semple, Robert K RK
Publication Date: 2016-10-20

Variant appearance in text: PI3K: Y644H
PubMed Link: 27766312
Variant Present in the following documents:
  • jciinsight-1-88766-s001.pdf
View BVdb publication page



Poly (ADP-Ribose) Polymerase Inhibitor Hypersensitivity in Aggressive Myeloproliferative Neoplasms.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Pratz, Keith W KW; Koh, Brian D BD; Patel, Anand G AG; Flatten, Karen S KS; Poh, Weijie W; Herman, James G JG; Dilley, Robert R; Harrell, Maria I MI; Smith, B Douglas BD; Karp, Judith E JE; Swisher, Elizabeth M EM; McDevitt, Michael A MA; Kaufmann, Scott H SH
Publication Date: 2016-08-01

Variant appearance in text: PIK3CA: Y644H
PubMed Link: 26979391
Variant Present in the following documents:
  • Main text
View BVdb publication page



Kinome sequencing reveals RET G691S polymorphism in human neuroendocrine lung cancer cell lines.

Genes & Genomics
Sosonkina, Nadiya N; Hong, Seung-Keun SK; Starenki, Dmytro D; Park, Jong-In JI
Publication Date: 2014-12

Variant appearance in text: PIK3CA: Y644H
PubMed Link: 25530832
Variant Present in the following documents:
  • Main text
View BVdb publication page



High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

Plos One
Kelleher, Raymond J RJ; Geigenmüller, Ute U; Hovhannisyan, Hayk H; Trautman, Edwin E; Pinard, Robert R; Rathmell, Barbara B; Carpenter, Randall R; Margulies, David D
Publication Date: 2012

Variant appearance in text: PIK3CA: 1930T>C; Y644H
PubMed Link: 22558107
Variant Present in the following documents:
  • pone.0035003.s004.pdf
View BVdb publication page