PIK3CA c.3131A>G ;(p.N1044S)

Variant ID: 3-178952076-A-G

NM_006218.2(PIK3CA):c.3131A>G;(p.N1044S)

This variant was identified in 38 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: N1044S
PubMed Link: 37101291
Variant Present in the following documents:
  • 13073_2023_1181_MOESM1_ESM.pdf
View BVdb publication page



BCL2L11 Induction Mediates Sensitivity to Src and MEK1/2 Inhibition in Thyroid Cancer.

Cancers
Rose, Madison M MM; Espinoza, Veronica L VL; Hoff, Katelyn J KJ; Pike, Laura A LA; Sharma, Vibha V; Hofmann, Marie-Claude MC; Tan, Aik Choon AC; Pozdeyev, Nikita N; Schweppe, Rebecca E RE
Publication Date: 2023-01-06

Variant appearance in text: PIK3CA: N1044S
PubMed Link: 36672327
Variant Present in the following documents:
  • cancers-15-00378.pdf
View BVdb publication page



Characterization of driver mutations in Chinese non-small cell lung cancer patients using a novel targeted sequencing panel.

Journal Of Thoracic Disease
Zhao, Jing J; Wu, Yang Y; Chen, Min-Jiang MJ; Xu, Yan Y; Zhong, Wei W; Wang, Meng-Zhao MZ
Publication Date: 2022-12

Variant appearance in text: PIK3CA: N1044S
PubMed Link: 36647494
Variant Present in the following documents:
  • Main text
  • jtd-14-12-4669.pdf
View BVdb publication page



Oncogenic mutations of PIK3CA lead to increased membrane recruitment driven by reorientation of the ABD, p85 and C-terminus.

Nature Communications
Jenkins, Meredith L ML; Ranga-Prasad, Harish H; Parson, Matthew A H MAH; Harris, Noah J NJ; Rathinaswamy, Manoj K MK; Burke, John E JE
Publication Date: 2023-01-12

Variant appearance in text: PI3K: N1044S
PubMed Link: 36635288
Variant Present in the following documents:
  • Main text
  • 41467_2023_Article_35789.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: N1044S
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 5
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: 3131A>G; Asn1044Ser
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: 3131A>G; N1044S
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
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: 3131A>G; N1044S
PubMed Link: 36311816
Variant Present in the following documents:
  • crc-22-0314-s02.xlsx, sheet 6
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: 3131A>G; N1044S
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.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: 3131A>G; N1044S
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



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: N1044S
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: PIK3CA: 3131A>G; Asn1044Ser
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL
Publication Date: 2022-02

Variant appearance in text: PIK3CA: 3131A>G; N1044S
PubMed Link: 34918496
Variant Present in the following documents:
  • ADVS-9-2103360-s002.xlsx, sheet 1
  • ADVS-9-2103360-s007.xlsx, sheet 2
  • ADVS-9-2103360-s002.xlsx, sheet 2
View BVdb publication page



Mesenchymal-Epithelial Transition Exon 14 Skipping Mutation and Amplification in 5,008 Patients With Lung Cancer.

Frontiers In Oncology
Song, Yaolin Y; Li, Guangqi G; Ju, Kun K; Ran, Wenwen W; Zhao, Han H; Liu, Xianglan X; Hou, Mingyu M; He, Yulu Y; Chen, Yang Y; Zang, Guoliang G; Xing, Xiaoming X
Publication Date: 2021

Variant appearance in text: PIK3CA: Asn1044Ser
PubMed Link: 34660325
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing Genetic Variants in Matched Biocompartments From Patients With Serous Ovarian Cancer.

Technology In Cancer Research & Treatment
Sanders, Brooke E BE; Ku, Lisa L; Walker, Paul P; Bitler, Benjamin G BG
Publication Date: 2021

Variant appearance in text: PIK3CA: N1044S
PubMed Link: 34169762
Variant Present in the following documents:
  • Main text
  • 10.1177_15330338211027917.pdf
View BVdb publication page



Detection of PIK3CA Gene Mutation in Head and Neck Squamous Cell Carcinoma Using Droplet Digital PCR and RT-qPCR.

Biomolecules
Borkowska, Edyta M EM; Barańska, Magda M; Kowalczyk, Magdalena M; Pietruszewska, Wioletta W
Publication Date: 2021-05-31

Variant appearance in text: PIK3CA: N1044S
PubMed Link: 34072735
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: PIK3CA: N1044S
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7
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: N1044S
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.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: rs1064793838
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: PIK3CA: 3131A>G; Asn1044Ser
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
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: N1044S
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.

Bmc Medical Genomics
Akahane, Toshiaki T; Kitazono, Ikumi I; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Sakamoto, Ippei I; Nohara, Sachio S; Yokoyama, Seiya S; Kobayashi, Hiroaki H; Hiraki, Tsubasa T; Suzuki, Shinsuke S; Ueno, Shinichi S; Tanimoto, Akihide A
Publication Date: 2020-07-11

Variant appearance in text: PIK3CA: 3131A>G; Asn1044Ser
PubMed Link: 32652986
Variant Present in the following documents:
  • 12920_2020_753_MOESM1_ESM.xlsx, sheet 1
  • 12920_2020_753_MOESM2_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: N1044S
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: PIK3CA: Asn1044Ser
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma.

Academic Pathology
Nasrallah, MacLean P MP; Binder, Zev A ZA; Oldridge, Derek A DA; Zhao, Jianhua J; Lieberman, David B DB; Roth, Jacquelyn J JJ; Watt, Christopher D CD; Sukhadia, Shrey S; Klinman, Eva E; Daber, Robert D RD; Desai, Arati A; Brem, Steven S; O'Rourke, Donald M DM; Morrissette, Jennifer J D JJD
Publication Date: 2019

Variant appearance in text: PIK3CA: N1044S
PubMed Link: 31206012
Variant Present in the following documents:
  • Supplementary_Table_1.xlsx, sheet 1
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: N1044S
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



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: N1044S
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



Implementation and utilization of the molecular tumor board to guide precision medicine.

Oncotarget
Harada, Shuko S; Arend, Rebecca R; Dai, Qian Q; Levesque, Jessica A JA; Winokur, Thomas S TS; Guo, Rongjun R; Heslin, Martin J MJ; Nabell, Lisle L; Nabors, L Burt LB; Limdi, Nita A NA; Roth, Kevin A KA; Partridge, Edward E EE; Siegal, Gene P GP; Yang, Eddy S ES
Publication Date: 2017-08-22

Variant appearance in text: PIK3CA: N1044S
PubMed Link: 28915716
Variant Present in the following documents:
  • oncotarget-08-57845-s001.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: 3131A>G; N1044S
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Epstein-Barr virus-associated gastric cancer reveals intratumoral heterogeneity of PIK3CA mutations.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Böger, C C; Krüger, S S; Behrens, H M HM; Bock, S S; Haag, J J; Kalthoff, H H; Röcken, C C
Publication Date: 2017-05-01

Variant appearance in text: PIK3CA: N1044S
PubMed Link: 28453696
Variant Present in the following documents:
  • Main text
  • mdx047.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: 3131A>G; N1044S
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
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: 3131A>G; N1044S
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.

Journal Of Translational Medicine
Dallol, Ashraf A; Buhmeida, Abdelbaset A; Al-Ahwal, Mahmoud Shaheen MS; Al-Maghrabi, Jaudah J; Bajouh, Osama O; Al-Khayyat, Shadi S; Alam, Rania R; Abusanad, Atlal A; Turki, Rola R; Elaimi, Aisha A; Alhadrami, Hani A HA; Abuzenadah, Mohammed M; Banni, Huda H; Al-Qahtani, Mohammed H MH; Abuzenadah, Adel M AM
Publication Date: 2016-05-04

Variant appearance in text: PIK3CA: Asn1044Ser
PubMed Link: 27146902
Variant Present in the following documents:
  • Main text
  • 12967_2016_Article_878.pdf
View BVdb publication page



Serial Next-Generation Sequencing of Circulating Cell-Free DNA Evaluating Tumor Clone Response To Molecularly Targeted Drug Administration.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Frenel, Jean Sebastien JS; Carreira, Suzanne S; Goodall, Jane J; Roda, Desam D; Perez-Lopez, Raquel R; Tunariu, Nina N; Riisnaes, Ruth R; Miranda, Susana S; Figueiredo, Ines I; Nava-Rodrigues, Daniel D; Smith, Alan A; Leux, Christophe C; Garcia-Murillas, Isaac I; Ferraldeschi, Roberta R; Lorente, David D; Mateo, Joaquin J; Ong, Michael M; Yap, Timothy A TA; Banerji, Udai U; Gasi Tandefelt, Delila D; Turner, Nick N; Attard, Gerhardt G; de Bono, Johann S JS
Publication Date: 2015-10-15

Variant appearance in text: PIK3CA: N1044S
PubMed Link: 26085511
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.

Nature Communications
Schulz, Eduard E; Klampfl, Petra P; Holzapfel, Stefanie S; Janecke, Andreas R AR; Ulz, Peter P; Renner, Wilfried W; Kashofer, Karl K; Nojima, Satoshi S; Leitner, Anita A; Zebisch, Armin A; Wölfler, Albert A; Hofer, Sybille S; Gerger, Armin A; Lax, Sigurd S; Beham-Schmid, Christine C; Steinke, Verena V; Heitzer, Ellen E; Geigl, Jochen B JB; Windpassinger, Christian C; Hoefler, Gerald G; Speicher, Michael R MR; Boland, C Richard CR; Kumanogoh, Atsushi A; Sill, Heinz H
Publication Date: 2014-10-13

Variant appearance in text: PIK3CA: N1044S
PubMed Link: 25307848
Variant Present in the following documents:
  • ncomms6191-s1.pdf
View BVdb publication page



Validation and utilisation of high-coverage next-generation sequencing to deliver the pharmacological audit trail.

British Journal Of Cancer
Ong, M M; Carreira, S S; Goodall, J J; Mateo, J J; Figueiredo, I I; Rodrigues, D N DN; Perkins, G G; Seed, G G; Yap, T A TA; Attard, G G; de Bono, J S JS
Publication Date: 2014-08-26

Variant appearance in text: PIK3CA: N1044S
PubMed Link: 24983367
Variant Present in the following documents:
  • Main text
  • bjc2014350a.pdf
View BVdb publication page



ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.

Nature Genetics
Toy, Weiyi W; Shen, Yang Y; Won, Helen H; Green, Bradley B; Sakr, Rita A RA; Will, Marie M; Li, Zhiqiang Z; Gala, Kinisha K; Fanning, Sean S; King, Tari A TA; Hudis, Clifford C; Chen, David D; Taran, Tetiana T; Hortobagyi, Gabriel G; Greene, Geoffrey G; Berger, Michael M; Baselga, José J; Chandarlapaty, Sarat S
Publication Date: 2013-12

Variant appearance in text: PIK3CA: N1044S
PubMed Link: 24185512
Variant Present in the following documents:
  • NIHMS531250-supplement-2.xlsx, sheet 1
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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: PIK3CA: N1044S
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
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