PIK3CA c.1133G>A ;(p.C378Y)

Variant ID: 3-178922364-G-A

NM_006218.2(PIK3CA):c.1133G>A;(p.C378Y)

This variant was identified in 55 publications

View GRCh38 version.




Publications:


Alteration in molecular properties during establishment and passaging of endometrial carcinoma patient-derived xenografts.

Scientific Reports
Imai, Toshio T; Yoshida, Hiroshi H; Machida, Yukino Y; Kuramochi, Mizuki M; Ichikawa, Hitoshi H; Kubo, Takashi T; Takahashi, Mami M; Kato, Tomoyasu T
Publication Date: 2023-05-25

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 37231035
Variant Present in the following documents:
  • 41598_2023_35703_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: 1133G>A; Cys378Tyr
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genetic heterogeneity and tissue-specific patterns of tumors with multiple PIK3CA mutations.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Sivakumar, Smruthy S; Jin, Dexter X DX; Rathod, Ruchita R; Ross, Jeffrey J; Cantley, Lewis C LC; Scaltriti, Maurizio M; Chen, Jessica W JW; Hutchinson, Katherine E KE; Wilson, Timothy R TR; Sokol, Ethan S ES; Vasan, Neil N
Publication Date: 2023-01-03

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 36595567
Variant Present in the following documents:
  • ccr-22-2270_supplementary_tables_s1-14_suppts1-14.xlsx, sheet 12
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: C378Y
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 5
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: C378Y
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.

Biomedicines
Diociaiuti, Andrea A; Rotunno, Roberta R; Pisaneschi, Elisa E; Cesario, Claudia C; Carnevale, Claudia C; Condorelli, Angelo Giuseppe AG; Rollo, Massimo M; Di Cecca, Stefano S; Quintarelli, Concetta C; Novelli, Antonio A; Zambruno, Giovanna G; El Hachem, May M
Publication Date: 2022-06-20

Variant appearance in text: PIK3CA: 1133G>A
PubMed Link: 35740480
Variant Present in the following documents:
  • biomedicines-10-01460.pdf
View BVdb publication page



Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.

Neuro-Oncology
Zhang, Yalan Y; Lucas, Calixto-Hope G CG; Young, Jacob S JS; Morshed, Ramin A RA; McCoy, Lucie L; Oberheim Bush, Nancy Ann NA; Taylor, Jennie W JW; Daras, Mariza M; Butowski, Nicholas A NA; Villanueva-Meyer, Javier E JE; Cha, Soonmee S; Wrensch, Margaret M; Wiencke, John K JK; Lee, Julieann C JC; Pekmezci, Melike M; Phillips, Joanna J JJ; Perry, Arie A; Bollen, Andrew W AW; Aghi, Manish K MK; Theodosopoulos, Philip P; Chang, Edward F EF; Hervey-Jumper, Shawn L SL; Berger, Mitchel S MS; Clarke, Jennifer L JL; Chang, Susan M SM; Molinaro, Annette M AM; Solomon, David A DA
Publication Date: 2022-10-03

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 35395677
Variant Present in the following documents:
  • noac089_suppl_supplementary_tables_s1-s11.xlsx, sheet 2
View BVdb publication page



Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.

American Journal Of Medical Genetics. Part A
Verberne, Eline A EA; Westermann, Jonne M JM; de Vries, Tamar I TI; Ecury-Goossen, Ginette M GM; Lo-A-Njoe, Shirley M SM; Manshande, Meindert E ME; Faries, Sonja S; Veenhuis, Hans D HD; Philippi, Patricia P; Falix, Farah A FA; Rosina-Angelista, Irsa I; Ponson-Wever, Maria M; Rafael-Croes, Louise L; Thorsen, Patricia P; Arends, Eric E; de Vroomen, Maartje M; Nagelkerke, Sietse Q SQ; Tilanus, Martijn M; van der Veken, Lars T LT; Huijsdens-van Amsterdam, Karin K; van der Kevie-Kersemaekers, Anne-Marie AM; Alders, Mariëlle M; Mannens, Marcel M A M MMAM; van Haelst, Mieke M MM
Publication Date: 2022-06

Variant appearance in text: PIK3CA: Cys378Tyr
PubMed Link: 35253369
Variant Present in the following documents:
  • Main text
  • AJMG-188-1777.pdf
View BVdb publication page



Association between TP53 mutation and high 21-gene recurrence score in estrogen receptor-positive/HER2-negative breast cancer.

Npj Breast Cancer
Ji, Jung Hwan JH; Bae, Soong June SJ; Kim, Kyungsoo K; Chu, Chihhao C; Lee, Kyung-A KA; Kim, Yoonjung Y; Kim, Jee Hung JH; Jeong, Joon J; Ahn, Sung Gwe SG
Publication Date: 2022-02-16

Variant appearance in text: PIK3CA: 1133G>A; Cys378Tyr
PubMed Link: 35173185
Variant Present in the following documents:
  • 41523_2022_384_MOESM1_ESM.pdf
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: rs397514565
PubMed Link: 35081118
Variant Present in the following documents:
  • 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: rs397514565
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Discrimination Between Primary Lung Cancer and Lung Metastases by Genomic Profiling.

Jto Clinical And Research Reports
Higuchi, Rumi R; Goto, Taichiro T; Nakagomi, Takahiro T; Hirotsu, Yosuke Y; Oyama, Toshio T; Amemiya, Kenji K; Mochizuki, Hitoshi H; Omata, Masao M
Publication Date: 2021-12

Variant appearance in text: PIK3CA: Cys378Tyr
PubMed Link: 34877557
Variant Present in the following documents:
  • mmc2.pdf
View BVdb publication page



Comprehensive identification of FGFR1-4 alterations in 5 557 Chinese patients with solid tumors by next-generation sequencing.

American Journal Of Cancer Research
Gu, Weiquan W; Yang, Jie J; Wang, Yong Y; Xu, Jun J; Wang, Xiaoxuan X; Du, Furong F; Hu, Xiangjing X; Guo, Hao H; Song, Chao C; Tao, Rongjie R; Zhang, Xuchao X
Publication Date: 2021

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 34522456
Variant Present in the following documents:
  • Main text
View BVdb publication page



Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Luu, M M; Vabres, P P; Devilliers, H H; Loffroy, R R; Phan, A A; Martin, L L; Morice-Picard, F F; Petit, F F; Willems, M M; Bessis, D D; Jacquemont, M L ML; Maruani, A A; Chiaverini, C C; Mirault, T T; Clayton-Smith, J J; Carpentier, M M; Fleck, C C; Maurer, A A; Yousfi, M M; Parker, V E R VER; Semple, R K RK; Bardou, M M; Faivre, L L
Publication Date: 2021-12

Variant appearance in text: PIK3CA: 1133G>A
PubMed Link: 34385668
Variant Present in the following documents:
  • Main text
  • 41436_2021_Article_1290.pdf
View BVdb publication page



Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Luu, M M; Vabres, P P; Devilliers, H H; Loffroy, R R; Phan, A A; Martin, L L; Morice-Picard, F F; Petit, F F; Willems, M M; Bessis, D D; Jacquemont, M L ML; Maruani, A A; Chiaverini, C C; Mirault, T T; Clayton-Smith, J J; Carpentier, M M; Fleck, C C; Maurer, A A; Yousfi, M M; Parker, V E R VER; Semple, R K RK; Bardou, M M; Faivre, L L
Publication Date: 2021-12

Variant appearance in text: PIK3CA: 1133G>A
PubMed Link: 34385668
Variant Present in the following documents:
  • Main text
  • 41436_2021_Article_1290.pdf
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 31
  • Table_1.xlsx, sheet 15
View BVdb publication page



Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications
Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L
Publication Date: 2021-04-19

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 33875650
Variant Present in the following documents:
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 5
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Frequent post-operative monitoring of colorectal cancer using individualised ctDNA validated by multiregional molecular profiling.

British Journal Of Cancer
Yaegashi, Mizunori M; Iwaya, Takeshi T; Sasaki, Noriyuki N; Fujita, Masashi M; Ju, Zhenlin Z; Siwak, Doris D; Hachiya, Tsuyoshi T; Sato, Kei K; Endo, Fumitaka F; Kimura, Toshimoto T; Otsuka, Koki K; Sugimoto, Ryo R; Sugai, Tamotsu T; Liotta, Lance L; Lu, Yiling Y; Mills, Gordon B GB; Nakagawa, Hidewaki H; Nishizuka, Satoshi S SS
Publication Date: 2021-04

Variant appearance in text: PIK3CA: 1133G>A
PubMed Link: 33658639
Variant Present in the following documents:
  • 41416_2021_Article_1266.pdf
View BVdb publication page



Frequent post-operative monitoring of colorectal cancer using individualised ctDNA validated by multiregional molecular profiling.

British Journal Of Cancer
Yaegashi, Mizunori M; Iwaya, Takeshi T; Sasaki, Noriyuki N; Fujita, Masashi M; Ju, Zhenlin Z; Siwak, Doris D; Hachiya, Tsuyoshi T; Sato, Kei K; Endo, Fumitaka F; Kimura, Toshimoto T; Otsuka, Koki K; Sugimoto, Ryo R; Sugai, Tamotsu T; Liotta, Lance L; Lu, Yiling Y; Mills, Gordon B GB; Nakagawa, Hidewaki H; Nishizuka, Satoshi S SS
Publication Date: 2021-04

Variant appearance in text: PIK3CA: 1133G>A
PubMed Link: 33658639
Variant Present in the following documents:
  • 41416_2021_Article_1266.pdf
View BVdb publication page



Clinicopathologic Features and Prognosis of BRAF Mutated Colorectal Cancer Patients.

Frontiers In Oncology
Guan, Wen-Long WL; Qiu, Miao-Zhen MZ; He, Cai-Yun CY; Yang, Li-Qiong LQ; Jin, Ying Y; Wang, Zhi-Qiang ZQ; Li, Yu-Hong YH; Xu, Rui-Hua RH; Wang, Feng-Hua FH
Publication Date: 2020

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 33330032
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.xlsx, sheet 1
View BVdb publication page



A flexible computational pipeline for research analyses of unsolved clinical exome cases.

Npj Genomic Medicine
Lassmann, Timo T; Francis, Richard W RW; Weeks, Alexia A; Tang, Dave D; Jamieson, Sarra E SE; Broley, Stephanie S; Dawkins, Hugh J S HJS; Dreyer, Lauren L; Goldblatt, Jack J; Groza, Tudor T; Kamien, Benjamin B; Kiraly-Borri, Cathy C; McKenzie, Fiona F; Murphy, Lesley L; Pachter, Nicholas N; Pathak, Gargi G; Poulton, Cathryn C; Samanek, Amanda A; Skoss, Rachel R; Slee, Jennie J; Townshend, Sharron S; Ward, Michelle M; Baynam, Gareth S GS; Blackwell, Jenefer M JM
Publication Date: 2020-12-10

Variant appearance in text: PIK3CA: Cys378Tyr; rs397514565
PubMed Link: 33303739
Variant Present in the following documents:
  • Main text
  • 41525_2020_Article_161.pdf
  • 41525_2020_161_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.

Journal Of Clinical Medicine
Paolacci, Stefano S; Mattassi, Raul Ettore RE; Marceddu, Giuseppe G; Manara, Elena E; Zulian, Alessandra A; Guerri, Giulia G; De Antoni, Luca L; Arduino, Carlo C; Cavalca, Daniela D; Bertelli, Matteo M
Publication Date: 2020-10-22

Variant appearance in text: PIK3CA: 1133G>A; C378Y
PubMed Link: 33105631
Variant Present in the following documents:
  • Main text
  • jcm-09-03387.pdf
View BVdb publication page



Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations.

Nature Communications
Brady, Samuel W SW; Liu, Yanling Y; Ma, Xiaotu X; Gout, Alexander M AM; Hagiwara, Kohei K; Zhou, Xin X; Wang, Jian J; Macias, Michael M; Chen, Xiaolong X; Easton, John J; Mulder, Heather L HL; Rusch, Michael M; Wang, Lu L; Nakitandwe, Joy J; Lei, Shaohua S; Davis, Eric M EM; Naranjo, Arlene A; Cheng, Cheng C; Maris, John M JM; Downing, James R JR; Cheung, Nai-Kong V NV; Hogarty, Michael D MD; Dyer, Michael A MA; Zhang, Jinghui J
Publication Date: 2020-10-14

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 33056981
Variant Present in the following documents:
  • 41467_2020_18987_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.

Orphanet Journal Of Rare Diseases
Park, Hyun Jin HJ; Shin, Chang Ho CH; Yoo, Won Joon WJ; Cho, Tae-Joon TJ; Kim, Man Jin MJ; Seong, Moon-Woo MW; Park, Sung Sup SS; Lee, Jeong Ho JH; Sim, Nam Suk NS; Ko, Jung Min JM
Publication Date: 2020-08-10

Variant appearance in text: PIK3CA: Cys378Tyr
PubMed Link: 32778138
Variant Present in the following documents:
  • Main text
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Prevalence and characteristics of PIK3CA mutation in mismatch repair-deficient colorectal cancer.

Journal Of Cancer
Li, Weihua W; Qiu, Tian T; Dong, Lin L; Zhang, Fanshuang F; Guo, Lei L; Ying, Jianming J
Publication Date: 2020

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 32328187
Variant Present in the following documents:
  • jcav11p3827s1.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: C378Y
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM13_ESM.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: Cys378Tyr
PubMed Link: 31729162
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Alterations in Benign Breast Biopsies of Subsequent Breast Cancer Patients.

Frontiers In Medicine
Soysal, Savas D SD; Ng, Charlotte K Y CKY; Costa, Luigi L; Weber, Walter P WP; Paradiso, Viola V; Piscuoglio, Salvatore S; Muenst, Simone S
Publication Date: 2019

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 31396514
Variant Present in the following documents:
  • Main text
  • fmed-06-00166.pdf
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Molecular profiling of cancer patients enables personalized combination therapy: the I-PREDICT study.

Nature Medicine
Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Schwaederle, Maria M; Hahn, Michael E ME; Williams, Casey B CB; De, Pradip P; Krie, Amy A; Piccioni, David E DE; Miller, Vincent A VA; Ross, Jeffrey S JS; Benson, Adam A; Webster, Jennifer J; Stephens, Philip J PJ; Lee, J Jack JJ; Fanta, Paul T PT; Lippman, Scott M SM; Leyland-Jones, Brian B; Kurzrock, Razelle R
Publication Date: 2019-05

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 31011206
Variant Present in the following documents:
  • NIHMS1522524-supplement-Sup_Tables_1_-_2.xlsx, sheet 2
View BVdb publication page



Molecular diagnosis of somatic overgrowth conditions: A single-center experience.

Molecular Genetics & Genomic Medicine
Lalonde, Emilie E; Ebrahimzadeh, Jessica J; Rafferty, Keith K; Richards-Yutz, Jennifer J; Grant, Richard R; Toorens, Erik E; Marie Rosado, Jennifer J; Schindewolf, Erica E; Ganguly, Tapan T; Kalish, Jennifer M JM; Deardorff, Matthew A MA; Ganguly, Arupa A
Publication Date: 2019-03

Variant appearance in text: PIK3CA: 1133G>A; Cys378Tyr
PubMed Link: 30761771
Variant Present in the following documents:
  • MGG3-7-na-s003.xlsx, sheet 1
View BVdb publication page



Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer.

Scientific Reports
Kaur, Pushpinder P; Porras, Tania B TB; Ring, Alexander A; Carpten, John D JD; Lang, Julie E JE
Publication Date: 2019-02-06

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 30728399
Variant Present in the following documents:
  • 41598_2018_37574_MOESM1_ESM.pdf
View BVdb publication page



Stress-induced precocious aging in PD-patient iPSC-derived NSCs may underlie the pathophysiology of Parkinson's disease.

Cell Death & Disease
Zhu, Liang L; Sun, Chenxi C; Ren, Jie J; Wang, Guangming G; Ma, Rongjie R; Sun, Lixin L; Yang, Danjing D; Gao, Shane S; Ning, Ke K; Wang, Zhigang Z; Chen, Xu X; Chen, Shengdi S; Zhu, Hongwen H; Gao, Zhengliang Z; Xu, Jun J
Publication Date: 2019-02-04

Variant appearance in text: PI3K: 1133G>A
PubMed Link: 30718471
Variant Present in the following documents:
  • 41419_2019_1313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: PIK3CA: 1133G>A; C378Y
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
  • 12885_2019_5313_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Publication Date: 2018-09-10

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 30202034
Variant Present in the following documents:
  • 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 1
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 2
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12
View BVdb publication page



Comprehensive Characterization of Cancer Driver Genes and Mutations.

Cell
Bailey, Matthew H MH; Tokheim, Collin C; Porta-Pardo, Eduard E; Sengupta, Sohini S; Bertrand, Denis D; Weerasinghe, Amila A; Colaprico, Antonio A; Wendl, Michael C MC; Kim, Jaegil J; Reardon, Brendan B; Ng, Patrick Kwok-Shing PK; Jeong, Kang Jin KJ; Cao, Song S; Wang, Zixing Z; Gao, Jianjiong J; Gao, Qingsong Q; Wang, Fang F; Liu, Eric Minwei EM; Mularoni, Loris L; Rubio-Perez, Carlota C; Nagarajan, Niranjan N; Cortés-Ciriano, Isidro I; Zhou, Daniel Cui DC; Liang, Wen-Wei WW; Hess, Julian M JM; Yellapantula, Venkata D VD; Tamborero, David D; Gonzalez-Perez, Abel A; Suphavilai, Chayaporn C; Ko, Jia Yu JY; Khurana, Ekta E; Park, Peter J PJ; Van Allen, Eliezer M EM; Liang, Han H; , ; , ; Lawrence, Michael S MS; Godzik, Adam A; Lopez-Bigas, Nuria N; Stuart, Josh J; Wheeler, David D; Getz, Gad G; Chen, Ken K; Lazar, Alexander J AJ; Mills, Gordon B GB; Karchin, Rachel R; Ding, Li L
Publication Date: 2018-04-05

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 29625053
Variant Present in the following documents:
  • Main text
View BVdb publication page



Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07

Variant appearance in text: PIK3CA: 1133G>A; C378Y
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s021.xlsx, sheet 1
View BVdb publication page



Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: PIK3CA: C378Y; rs397514565
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page



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: C378Y
PubMed Link: 28353628
Variant Present in the following documents:
  • Main text
  • cancers-09-00030.pdf
View BVdb publication page



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: 1133G>A; C378Y
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page



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: PI3K: 1133G>A
PubMed Link: 27631024
Variant Present in the following documents:
  • Main text
  • jciinsight-1-87623.pdf
  • jciinsight-1-87623-s001.pdf
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: C378Y
PubMed Link: 27191687
Variant Present in the following documents:
  • Main text
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: C378Y
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.

Scientific Reports
Li, Chenguang C; Gao, Zhibo Z; Li, Fei F; Li, Xiangchun X; Sun, Yihua Y; Wang, Mengyun M; Li, Dan D; Wang, Rui R; Li, Fuming F; Fang, Rong R; Pan, Yunjian Y; Luo, Xiaoyang X; He, Jing J; Zheng, Liangtao L; Xia, Jufeng J; Qiu, Lixin L; He, Jun J; Ye, Ting T; Zhang, Ruoxin R; He, Minghui M; Zhu, Meiling M; Hu, Haichuan H; Shi, Tingyan T; Zhou, Xiaoyan X; Sun, Menghong M; Tian, Shilin S; Zhou, Yong Y; Wang, Qiaoxiu Q; Chen, Longyun L; Yin, Guangliang G; Lu, Jingya J; Wu, Renhua R; Guo, Guangwu G; Li, Yingrui Y; Hu, Xueda X; Li, Lin L; Asan, ; Wang, Qin Q; Yin, Ye Y; Feng, Qiang Q; Wang, Bin B; Wang, Hang H; Wang, Mingbang M; Yang, Xiaonan X; Zhang, Xiuqing X; Yang, Huanming H; Jin, Li L; Wang, Cun-Yu CY; Ji, Hongbin H; Chen, Haiquan H; Wang, Jun J; Wei, Qingyi Q
Publication Date: 2015-10-27

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 26503331
Variant Present in the following documents:
  • srep14237-s6.xls, sheet 1
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: C378Y
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 25855536
Variant Present in the following documents:
  • ncomms7744-s2.xlsx, sheet 1
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page



Functional consequences of somatic mutations in cancer using protein pocket-based prioritization approach.

Genome Medicine
Vuong, Huy H; Cheng, Feixiong F; Lin, Chen-Ching CC; Zhao, Zhongming Z
Publication Date: 2014

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 25360158
Variant Present in the following documents:
  • 13073_2014_81_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2014-10-28

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: PIK3CA: C378Y
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Nature Genetics
Rivière, Jean-Baptiste JB; Mirzaa, Ghayda M GM; O'Roak, Brian J BJ; Beddaoui, Margaret M; Alcantara, Diana D; Conway, Robert L RL; St-Onge, Judith J; Schwartzentruber, Jeremy A JA; Gripp, Karen W KW; Nikkel, Sarah M SM; Worthylake, Thea T; Sullivan, Christopher T CT; Ward, Thomas R TR; Butler, Hailly E HE; Kramer, Nancy A NA; Albrecht, Beate B; Armour, Christine M CM; Armstrong, Linlea L; Caluseriu, Oana O; Cytrynbaum, Cheryl C; Drolet, Beth A BA; Innes, A Micheil AM; Lauzon, Julie L JL; Lin, Angela E AE; Mancini, Grazia M S GM; Meschino, Wendy S WS; Reggin, James D JD; Saggar, Anand K AK; Lerman-Sagie, Tally T; Uyanik, Gökhan G; Weksberg, Rosanna R; Zirn, Birgit B; Beaulieu, Chandree L CL; , ; Majewski, Jacek J; Bulman, Dennis E DE; O'Driscoll, Mark M; Shendure, Jay J; Graham, John M JM; Boycott, Kym M KM; Dobyns, William B WB
Publication Date: 2012-06-24

Variant appearance in text: PIK3CA: Cys378Tyr
PubMed Link: 22729224
Variant Present in the following documents:
  • Main text
  • nihms382270.pdf
  • NIHMS382270-supplement-1.pdf
View BVdb publication page