PIK3CA c.3145G>A ;(p.G1049S)

Variant ID: 3-178952090-G-A

NM_006218.2(PIK3CA):c.3145G>A;(p.G1049S)

This variant was identified in 73 publications

View GRCh38 version.




Publications:


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: G1049S
PubMed Link: 37101291
Variant Present in the following documents:
  • 13073_2023_1181_MOESM1_ESM.pdf
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: 3145G>A; Gly1049Ser
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: G1049S
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 5
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: 3145G>A; G1049R
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies.

Frontiers In Genetics
Lu, Guanting G; Ma, Liya L; Xu, Pei P; Xian, Binqiang B; Wu, Lianying L; Ding, Jianying J; He, Xiaoyan X; Xia, Huiyun H; Ding, Wuwu W; Yang, Zhirong Z; Peng, Qiongling Q
Publication Date: 2022

Variant appearance in text: PIK3CA: 3145G>A; Gly1049Ser
PubMed Link: 35432459
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



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: 3145G>A; G1049S
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: PIK3CA: G1049S
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



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: G1049S
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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: 3145G>A; G1049S
PubMed Link: 33842311
Variant Present in the following documents:
  • Main text
  • fonc-11-595675.pdf
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: PIK3CA: 3145G>A; G1049S
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Comprehensive molecular profiling of Taiwanese breast cancers revealed potential therapeutic targets: prevalence of actionable mutations among 380 targeted sequencing analyses.

Bmc Cancer
Huang, Chi-Cheng CC; Tsai, Yi-Fang YF; Liu, Chun-Yu CY; Chao, Ta-Chung TC; Lien, Pei-Ju PJ; Lin, Yen-Shu YS; Feng, Chin-Jung CJ; Chiu, Jen-Hwey JH; Hsu, Chih-Yi CY; Tseng, Ling-Ming LM
Publication Date: 2021-02-25

Variant appearance in text: PIK3CA: G1049S
PubMed Link: 33632156
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_7931.pdf
View BVdb publication page



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: 3145G>A; G1049S
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.

Plos One
Saadeh, Fadi S FS; Morsi, Rami Z RZ; El-Kurdi, Abdallah A; Nemer, Georges G; Mahfouz, Rami R; Charafeddine, Maya M; Khoury, Jessica J; Najjar, Marwan W MW; Khoueiry, Pierre P; Assi, Hazem I HI
Publication Date: 2020

Variant appearance in text: PIK3CA: G1049S; rs121913277
PubMed Link: 33237934
Variant Present in the following documents:
  • pone.0242793.s003.xlsx, sheet 1
View BVdb publication page



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: 3145G>A; G1049S
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: rs121913277
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.

British Journal Of Cancer
Brzezinski, Jack J; Choufani, Sanaa S; Romao, Rodrigo R; Shuman, Cheryl C; Chen, Haiying H; Cunanan, Joanna J; Bagli, Darius D; Grant, Ronald R; Lorenzo, Armando A; Weksberg, Rosanna R
Publication Date: 2021-01

Variant appearance in text: rs121913277
PubMed Link: 33012783
Variant Present in the following documents:
  • 41416_2020_1102_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine
Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y
Publication Date: 2020-08-01

Variant appearance in text: PIK3CA: 3145G>A; G1049S
PubMed Link: 32738923
Variant Present in the following documents:
  • 12967_2020_2449_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Publication Date: 2020-07-30

Variant appearance in text: PIK3CA: G1049S
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: PIK3CA: 3145G>A; G1049S
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Clinicopathological characteristics and genetic analysis of pulmonary carcinoid tumors: A single-center retrospective cohort study and literature review.

Oncology Letters
Li, Xiongfei X; Hou, Yuelong Y; Shi, Tao T; He, Yue Y; Ren, Dian D; Song, Zuoqing Z; Wei, Sen S; Chen, Gang G; Chen, Jun J; Xu, Song S
Publication Date: 2020-03

Variant appearance in text: PI3K: 3145G>A
PubMed Link: 32194744
Variant Present in the following documents:
  • Main text
  • ol-19-03-2446.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: PIK3CA: G1049S
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Clinical Implication of Concordant or Discordant Genomic Profiling between Primary and Matched Metastatic Tissues in Patients with Colorectal Cancer.

Cancer Research And Treatment
Choi, Jung Yoon JY; Choi, Sunho S; Lee, Minhyeok M; Park, Young Soo YS; Sung, Jae Sook JS; Chang, Won Jin WJ; Kim, Ju Won JW; Choi, Yoon Ji YJ; Kim, Jin J; Kim, Dong-Sik DS; Lee, Sung-Ho SH; Seok, Junhee J; Park, Kyong Hwa KH; Kim, Seon Hahn SH; Kim, Yeul Hong YH
Publication Date: 2020-07

Variant appearance in text: PIK3CA: G1049S
PubMed Link: 32065847
Variant Present in the following documents:
  • crt-2020-044.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: PIK3CA: 3145G>A; G1049S
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: G1049S
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.

American Journal Of Medical Genetics. Part A
Davis, Shanlee S; Ware, Meredith A MA; Zeiger, Jordan J; Deardorff, Matthew A MA; Grand, Katheryn K; Grimberg, Adda A; Hsu, Stephanie S; Kelsey, Megan M; Majidi, Shideh S; Matthew, Revi P RP; Napier, Melanie M; Nokoff, Natalie N; Prasad, Chitra C; Riggs, Andrew C AC; McKinnon, Margaret L ML; Mirzaa, Ghayda G
Publication Date: 2020-01

Variant appearance in text: PIK3CA: Gly1049Ser
PubMed Link: 31729162
Variant Present in the following documents:
  • Main text
View BVdb publication page



A multi-modal data resource for investigating topographic heterogeneity in patient-derived xenograft tumors.

Scientific Data
Rajaram, Satwik S; Roth, Maike A MA; Malato, Julia J; VandenBerg, Scott S; Hann, Byron B; Atreya, Chloe E CE; Altschuler, Steven J SJ; Wu, Lani F LF
Publication Date: 2019-10-31

Variant appearance in text: PIK3CA: G1049S
PubMed Link: 31672976
Variant Present in the following documents:
  • Main text
  • 41597_2019_Article_225.pdf
View BVdb publication page



Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine
Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,
Publication Date: 2019-08-28

Variant appearance in text: PIK3CA: 3145G>A; Gly1049Ser; rs121913277
PubMed Link: 31455347
Variant Present in the following documents:
  • 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.

Bmc Cancer
Casula, Milena M; Paliogiannis, Panagiotis P; Ayala, Fabrizio F; De Giorgi, Vincenzo V; Stanganelli, Ignazio I; Mandalà, Mario M; Colombino, Maria M; Manca, Antonella A; Sini, Maria Cristina MC; Caracò, Corrado C; Ascierto, Paolo Antonio PA; Satta, Rosanna Rita RR; , ; Lissia, Amelia A; Cossu, Antonio A; Palmieri, Giuseppe G; ,
Publication Date: 2019-08-05

Variant appearance in text: PIK3CA: G1049S
PubMed Link: 31382929
Variant Present in the following documents:
  • Main text
  • 12885_2019_5984_MOESM2_ESM.pdf
View BVdb publication page



Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.

Molecular Genetics & Genomic Medicine
Zollino, Marcella M; Ranieri, Carlotta C; Grossi, Valentina V; Leoni, Chiara C; Lattante, Serena S; Mazzà, Daniela D; Simone, Cristiano C; Resta, Nicoletta N
Publication Date: 2019-08

Variant appearance in text: PIK3CA: Gly1049Ser
PubMed Link: 31290289
Variant Present in the following documents:
  • Main text
  • MGG3-7-e845.pdf
View BVdb publication page



SWOG S1400B (NCT02785913), a Phase II Study of GDC-0032 (Taselisib) for Previously Treated PI3K-Positive Patients with Stage IV Squamous Cell Lung Cancer (Lung-MAP Sub-Study).

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer
Langer, Corey J CJ; Redman, Mary W MW; Wade, James L JL; Aggarwal, Charu C; Bradley, Jeffrey D JD; Crawford, Jeffrey J; Stella, Philip J PJ; Knapp, Mark H MH; Miao, Jieling J; Minichiello, Katherine K; Herbst, Roy S RS; Kelly, Karen K; Gandara, David R DR; Papadimitrakopoulou, Vassiliki A VA
Publication Date: 2019-10

Variant appearance in text: PI3K: G1049S
PubMed Link: 31158500
Variant Present in the following documents:
  • Main text
View BVdb publication page



The distinct clinicopathological and prognostic implications of PIK3CA mutations in breast cancer patients from Central China.

Cancer Management And Research
Wu, Haibo H; Wang, Wei W; Du, Jun J; Li, Hong H; Wang, Huogang H; Huang, Liangliang L; Xiang, Hang H; Xie, Jing J; Liu, Xiaoli X; Li, Heng H; Lin, Wenchu W
Publication Date: 2019

Variant appearance in text: PIK3CA: Gly1049Ser
PubMed Link: 30863158
Variant Present in the following documents:
  • Main text
  • cmar-11-1473.pdf
View BVdb publication page



DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.

Ebiomedicine
Mäki-Nevala, Satu S; Valo, Satu S; Ristimäki, Ari A; Sarhadi, Virinder V; Knuutila, Sakari S; Nyström, Minna M; Renkonen-Sinisalo, Laura L; Lepistö, Anna A; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P
Publication Date: 2019-01

Variant appearance in text: PIK3CA: Gly1049Ser
PubMed Link: 30578081
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Bmc Urology
Kim, Young Saing YS; Kim, Kyung K; Kwon, Ghee-Young GY; Lee, Su Jin SJ; Park, Se Hoon SH
Publication Date: 2018-07-31

Variant appearance in text: PIK3CA: 3145G>A; G1049S
PubMed Link: 30064409
Variant Present in the following documents:
  • 12894_2018_380_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: G1049S
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



Feasibility study of cancer genome alterations identified by next generation sequencing: ABC study.

Japanese Journal Of Clinical Oncology
Naito, Yoichi Y; Takahashi, Hideaki H; Shitara, Kohei K; Okamoto, Wataru W; Bando, Hideaki H; Kuwata, Takeshi T; Kuboki, Yasutoshi Y; Matsumoto, Shingo S; Miki, Izumi I; Yamanaka, Takeharu T; Watanabe, Atsushi A; Kojima, Motohiro M
Publication Date: 2018-06-01

Variant appearance in text: PIK3CA: 3145G>A; G1049S
PubMed Link: 29659903
Variant Present in the following documents:
  • hyy052supplementaltable1ionver1.xls, sheet 1
View BVdb publication page



Copy number variations in atypical fibroxanthomas and pleomorphic dermal sarcomas.

Oncotarget
Helbig, Doris D; Quaas, Alexander A; Mauch, Cornelia C; Merkelbach-Bruse, Sabine S; Büttner, Reinhard R; Emberger, Michael M; Wobser, Marion M; Rüsseler, Vanessa V; Pütz, Katharina K; Binot, Elke E; Rehker, Jan J; Budczies, Jan J; Ihle, Michaela Angelika MA
Publication Date: 2017-12-12

Variant appearance in text: PIK3CA: 3145G>A
PubMed Link: 29312620
Variant Present in the following documents:
  • Main text
  • oncotarget-08-109457.pdf
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: PIK3CA: G1049S
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Translational Oncology
Lee, Ji Yun JY; Kim, Kyung K; Sung, Hyun Hwan HH; Jeon, Hwang Gyun HG; Jeong, Byong Chang BC; Seo, Seong Il SI; Jeon, Seong Soo SS; Lee, Hyun Moo HM; Choi, Han-Yong HY; Kwon, Ghee-Young GY; Kim, Kyoung-Mee KM; Lee, Jeeyun J; Lim, Ho Yeong HY; Park, Se Hoon SH
Publication Date: 2018-02

Variant appearance in text: PIK3CA: 3145G>A; G1049S
PubMed Link: 29161613
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



APOBEC3A is an oral cancer prognostic biomarker in Taiwanese carriers of an APOBEC deletion polymorphism.

Nature Communications
Chen, Ting-Wen TW; Lee, Chi-Ching CC; Liu, Hsuan H; Wu, Chi-Sheng CS; Pickering, Curtis R CR; Huang, Po-Jung PJ; Wang, Jing J; Chang, Ian Yi-Feng IY; Yeh, Yuan-Ming YM; Chen, Chih-De CD; Li, Hsin-Pai HP; Luo, Ji-Dung JD; Tan, Bertrand Chin-Ming BC; Chan, Timothy En Haw TEH; Hsueh, Chuen C; Chu, Lichieh Julie LJ; Chen, Yi-Ting YT; Zhang, Bing B; Yang, Chia-Yu CY; Wu, Chih-Ching CC; Hsu, Chia-Wei CW; See, Lai-Chu LC; Tang, Petrus P; Yu, Jau-Song JS; Liao, Wei-Chao WC; Chiang, Wei-Fan WF; Rodriguez, Henry H; Myers, Jeffrey N JN; Chang, Kai-Ping KP; Chang, Yu-Sun YS
Publication Date: 2017-09-06

Variant appearance in text: PIK3CA: G1049S; rs121913277
PubMed Link: 28878238
Variant Present in the following documents:
  • 41467_2017_493_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



PIK3CA exon9 mutations associate with reduced survival, and are highly concordant between matching primary tumors and metastases in endometrial cancer.

Scientific Reports
Mjos, Siv S; Werner, Henrica M J HMJ; Birkeland, Even E; Holst, Frederik F; Berg, Anna A; Halle, Mari K MK; Tangen, Ingvild L IL; Kusonmano, Kanthida K; Mauland, Karen K KK; Oyan, Anne M AM; Kalland, Karl-Henning KH; Lewis, Aurélia E AE; Mills, Gordon B GB; Krakstad, Camilla C; Trovik, Jone J; Salvesen, Helga B HB; Hoivik, Erling A EA
Publication Date: 2017-08-31

Variant appearance in text: PIK3CA: 3145G>A
PubMed Link: 28860563
Variant Present in the following documents:
  • 41598_2017_10717_MOESM1_ESM.pdf
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: PIK3CA: 3145G>A; G1049S; rs121913277
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
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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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PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts.

Cancers
De Santis, Maria Chiara MC; Sala, Valentina V; Martini, Miriam M; Ferrero, Giovanni Battista GB; Hirsch, Emilio E
Publication Date: 2017-03-29

Variant appearance in text: PIK3CA: G1049S
PubMed Link: 28353628
Variant Present in the following documents:
  • Main text
  • cancers-09-00030.pdf
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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: 3145G>A; G1049S
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Jci Insight
Mirzaa, Ghayda G; Timms, Andrew E AE; Conti, Valerio V; Boyle, Evan August EA; Girisha, Katta M KM; Martin, Beth B; Kircher, Martin M; Olds, Carissa C; Juusola, Jane J; Collins, Sarah S; Park, Kaylee K; Carter, Melissa M; Glass, Ian I; Krägeloh-Mann, Inge I; Chitayat, David D; Parikh, Aditi Shah AS; Bradshaw, Rachael R; Torti, Erin E; Braddock, Stephen S; Burke, Leah L; Ghedia, Sondhya S; Stephan, Mark M; Stewart, Fiona F; Prasad, Chitra C; Napier, Melanie M; Saitta, Sulagna S; Straussberg, Rachel R; Gabbett, Michael M; O'Connor, Bridget C BC; Keegan, Catherine E CE; Yin, Lim Jiin LJ; Lai, Angeline Hwei Meeng AHM; Martin, Nicole N; McKinnon, Margaret M; Addor, Marie-Claude MC; Boccuto, Luigi L; Schwartz, Charles E CE; Lanoel, Agustina A; Conway, Robert L RL; Devriendt, Koenraad K; Tatton-Brown, Katrina K; Pierpont, Mary Ella ME; Painter, Michael M; Worgan, Lisa L; Reggin, James J; Hennekam, Raoul R; Tsuchiya, Karen K; Pritchard, Colin C CC; Aracena, Mariana M; Gripp, Karen W KW; Cordisco, Maria M; Van Esch, Hilde H; Garavelli, Livia L; Curry, Cynthia C; Goriely, Anne A; Kayserilli, Hulya H; Shendure, Jay J; Graham, John J; Guerrini, Renzo R; Dobyns, William B WB
Publication Date: 2016-06-16

Variant appearance in text: PIK3CA: 3145G>A
PubMed Link: 27631024
Variant Present in the following documents:
  • jciinsight-1-87623.pdf
  • jciinsight-1-87623-s001.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: PIK3CA: 3145G>A; G1049S
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.

American Journal Of Medical Genetics. Part A
Gripp, Karen W KW; Baker, Laura L; Kandula, Vinay V; Conard, Katrina K; Scavina, Mena M; Napoli, Joseph A JA; Griffin, Gregory C GC; Thacker, Mihir M; Knox, Rachel G RG; Clark, Graeme R GR; Parker, Victoria E R VE; Semple, Robert R; Mirzaa, Ghayda G; Keppler-Noreuil, Kim M KM
Publication Date: 2016-10

Variant appearance in text: PIK3CA: G1049S
PubMed Link: 27191687
Variant Present in the following documents:
  • Main text
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PIK3CA mutations are associated with reduced pathological complete response rates in primary HER2-positive breast cancer: pooled analysis of 967 patients from five prospective trials investigating lapatinib and trastuzumab.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Loibl, S S; Majewski, I I; Guarneri, V V; Nekljudova, V V; Holmes, E E; Bria, E E; Denkert, C C; Schem, C C; Sotiriou, C C; Loi, S S; Untch, M M; Conte, P P; Bernards, R R; Piccart, M M; von Minckwitz, G G; Baselga, J J
Publication Date: 2016-08

Variant appearance in text: PIK3CA: G1049S
PubMed Link: 27177864
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated digital error suppression for improved detection of circulating tumor DNA.

Nature Biotechnology
Newman, Aaron M AM; Lovejoy, Alexander F AF; Klass, Daniel M DM; Kurtz, David M DM; Chabon, Jacob J JJ; Scherer, Florian F; Stehr, Henning H; Liu, Chih Long CL; Bratman, Scott V SV; Say, Carmen C; Zhou, Li L; Carter, Justin N JN; West, Robert B RB; Sledge, George W GW; Shrager, Joseph B JB; Loo, Billy W BW; Neal, Joel W JW; Wakelee, Heather A HA; Diehn, Maximilian M; Alizadeh, Ash A AA
Publication Date: 2016-05

Variant appearance in text: PIK3CA: 3145G>A; G1049S
PubMed Link: 27018799
Variant Present in the following documents:
  • NIHMS764326-supplement-6.xlsx, sheet 1
View BVdb publication page



PI3 kinase mutations and mutational load as poor prognostic markers in diffuse glioma patients.

Acta Neuropathologica Communications
Draaisma, Kaspar K; Wijnenga, Maarten M J MM; Weenink, Bas B; Gao, Ya Y; Smid, Marcel M; Robe, P P; van den Bent, Martin J MJ; French, Pim J PJ
Publication Date: 2015-12-23

Variant appearance in text: PIK3CA: 3145G>A; G1049S
PubMed Link: 26699864
Variant Present in the following documents:
  • 40478_2015_265_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: PI3K: G1049S
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Oncotarget
Lee, Ji Yun JY; Park, Kyunghee K; Lim, Sung Hee SH; Kim, Hae Su HS; Yoo, Kwai Han KH; Jung, Ki Sun KS; Song, Haa-Na HN; Hong, Mineui M; Do, In-Gu IG; Ahn, TaeJin T; Lee, Se Kyung SK; Bae, Soo Youn SY; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Jung, Hae Hyun HH; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-12-22

Variant appearance in text: PIK3CA: 3145G>A; G1049S
PubMed Link: 26527317
Variant Present in the following documents:
  • oncotarget-06-43731-s002.xlsx, sheet 1
View BVdb publication page



Patient-derived cell models as preclinical tools for genome-directed targeted therapy.

Oncotarget
Lee, Ji Yun JY; Kim, Sun Young SY; Park, Charny C; Kim, Nayoung K D NK; Jang, Jiryeon J; Park, Kyunghee K; Yi, Jun Ho JH; Hong, Mineui M; Ahn, Taejin T; Rath, Oliver O; Schueler, Julia J; Kim, Seung Tae ST; Do, In-Gu IG; Lee, Sujin S; Park, Se Hoon SH; Ji, Yong Ick YI; Kim, Dukwhan D; Park, Joon Oh JO; Park, Young Suk YS; Kang, Won Ki WK; Kim, Kyoung-Mee KM; Park, Woong-Yang WY; Lim, Ho Yeong HY; Lee, Jeeyun J
Publication Date: 2015-09-22

Variant appearance in text: PIK3CA: 3145G>A; G1049S
PubMed Link: 26296973
Variant Present in the following documents:
  • oncotarget-06-25619-s003.xls, sheet 1
View BVdb publication page



Prospective Biomarker Analysis of the Randomized CHER-LOB Study Evaluating the Dual Anti-HER2 Treatment With Trastuzumab and Lapatinib Plus Chemotherapy as Neoadjuvant Therapy for HER2-Positive Breast Cancer.

The Oncologist
Guarneri, Valentina V; Dieci, Maria Vittoria MV; Frassoldati, Antonio A; Maiorana, Antonino A; Ficarra, Guido G; Bettelli, Stefania S; Tagliafico, Enrico E; Bicciato, Silvio S; Generali, Daniele Giulio DG; Cagossi, Katia K; Bisagni, Giancarlo G; Sarti, Samanta S; Musolino, Antonino A; Ellis, Catherine C; Crescenzo, Rocco R; Conte, PierFranco P
Publication Date: 2015-09

Variant appearance in text: PIK3CA: G1049S
PubMed Link: 26245675
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PIK3CA: G1049S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



LINE-1 hypomethylation in normal colon mucosa is associated with poor survival in Chinese patients with sporadic colon cancer.

Oncotarget
Zhuo, Changhua C; Li, Qingguo Q; Wu, Yuchen Y; Li, Yiwei Y; Nie, Jia J; Li, Dawei D; Peng, Junjie J; Lian, Peng P; Li, Bin B; Cai, Guoxiang G; Li, Xinxiang X; Cai, Sanjun S
Publication Date: 2015-09-15

Variant appearance in text: PIK3CA: 3145G>A
PubMed Link: 26172297
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational and gene fusion analyses of primary large cell and large cell neuroendocrine lung cancer.

Oncotarget
Karlsson, Anna A; Brunnström, Hans H; Lindquist, Kajsa Ericson KE; Jirström, Karin K; Jönsson, Mats M; Rosengren, Frida F; Reuterswärd, Christel C; Cirenajwis, Helena H; Borg, Åke Å; Jönsson, Per P; Planck, Maria M; Jönsson, Göran G; Staaf, Johan J
Publication Date: 2015-09-08

Variant appearance in text: PIK3CA: 3145G>A; Gly1049Ser
PubMed Link: 26124082
Variant Present in the following documents:
  • oncotarget-06-22028-s004.xlsx, sheet 3
  • oncotarget-06-22028-s003.xlsx, sheet 1
View BVdb publication page



Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Oncotarget
Park, Kyunghee K; Choi, Moon Ki MK; Jung, Hae Hyun HH; Do, In-Gu IG; Lee, Kwang Hee KH; Ahn, TaeJin T; Kil, Won Ho WH; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-09-15

Variant appearance in text: PIK3CA: 3145G>A; G1049S
PubMed Link: 26009992
Variant Present in the following documents:
  • oncotarget-06-24499-s002.xlsx, sheet 1
View BVdb publication page



Prospective study of a molecular selection profile for RAS wild type colorectal cancer patients receiving irinotecan-cetuximab.

Journal Of Translational Medicine
Giampieri, Riccardo R; Mandolesi, Alessandra A; Abouelkhair, Khaled M KM; Loretelli, Cristian C; Del Prete, Michela M; Faloppi, Luca L; Maristella, Bianconi B; Ibrahim, Ezzeldin M EM; Scarpelli, Marina M; Cascinu, Stefano S; Scartozzi, Mario M
Publication Date: 2015-05-07

Variant appearance in text: PIK3CA: G1049S
PubMed Link: 25943333
Variant Present in the following documents:
  • Main text
  • 12967_2015_Article_501.pdf
View BVdb publication page



Heterogeneity of PIK3CA mutational status at the single cell level in circulating tumor cells from metastatic breast cancer patients.

Molecular Oncology
Pestrin, Marta M; Salvianti, Francesca F; Galardi, Francesca F; De Luca, Francesca F; Turner, Natalie N; Malorni, Luca L; Pazzagli, Mario M; Di Leo, Angelo A; Pinzani, Pamela P
Publication Date: 2015-04

Variant appearance in text: PIK3CA: 3145G>A
PubMed Link: 25539732
Variant Present in the following documents:
  • Main text
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Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas.

Bmc Cancer
Tone, Alicia A AA; McConechy, Melissa K MK; Yang, Winnie W; Ding, Jiarui J; Yip, Stephen S; Kong, Esther E; Wong, Kwong-Kwok KK; Gershenson, David M DM; Mackay, Helen H; Shah, Sohrab S; Gilks, Blake B; Tinker, Anna V AV; Clarke, Blaise B; McAlpine, Jessica N JN; Huntsman, David D
Publication Date: 2014-12-18

Variant appearance in text: PIK3CA: G1049S
PubMed Link: 25523272
Variant Present in the following documents:
  • 12885_2014_5198_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.

Plos One
Kim, Seokhwi S; Lee, Jeeyun J; Hong, Min Eui ME; Do, In-Gu IG; Kang, So Young SY; Ha, Sang Yun SY; Kim, Seung Tae ST; Park, Se Hoon SH; Kang, Won Ki WK; Choi, Min-Gew MG; Lee, Jun Ho JH; Sohn, Tae Sung TS; Bae, Jae Moon JM; Kim, Sung S; Kim, Duk-Hwan DH; Kim, Kyoung-Mee KM
Publication Date: 2014

Variant appearance in text: PIK3CA: 3145G>A; G1049S
PubMed Link: 25372287
Variant Present in the following documents:
  • pone.0111693.s003.xls, sheet 1
View BVdb publication page



Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

The Journal Of Molecular Diagnostics : Jmd
MacConaill, Laura E LE; Garcia, Elizabeth E; Shivdasani, Priyanka P; Ducar, Matthew M; Adusumilli, Ravali R; Breneiser, Marc M; Byrne, Mark M; Chung, Lawrence L; Conneely, Jodie J; Crosby, Lauren L; Garraway, Levi A LA; Gong, Xin X; Hahn, William C WC; Hatton, Charlie C; Kantoff, Philip W PW; Kluk, Michael M; Kuo, Frank F; Jia, Yonghui Y; Joshi, Ruchi R; Longtine, Janina J; Manning, Allison A; Palescandolo, Emanuele E; Sharaf, Nematullah N; Sholl, Lynette L; van Hummelen, Paul P; Wade, Jacqueline J; Wollinson, Bruce M BM; Zepf, Dimity D; Rollins, Barrett J BJ; Lindeman, Neal I NI
Publication Date: 2014-11

Variant appearance in text: PIK3CA: G1049S
PubMed Link: 25157968
Variant Present in the following documents:
  • Main text
View BVdb publication page



The determinants of head and neck cancer: Unmasking the PI3K pathway mutations.

Journal Of Carcinogenesis & Mutagenesis
Giudice, Fernanda S FS; Squarize, Cristiane H CH
Publication Date: 2013-08-02

Variant appearance in text: PI3K: G1049S
PubMed Link: 25126449
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel secondary somatic mutations in Ewing's sarcoma and desmoplastic small round cell tumors.

Plos One
Jiang, Yunyun Y; Subbiah, Vivek V; Janku, Filip F; Ludwig, Joseph A JA; Naing, Aung A; Benjamin, Robert S RS; Brown, Robert E RE; Anderson, Pete P; Kurzrock, Razelle R
Publication Date: 2014

Variant appearance in text: PIK3CA: G1049S
PubMed Link: 25119929
Variant Present in the following documents:
  • Main text
View BVdb publication page