PIK3CA c.248T>C ;(p.F83S)

Variant ID: 3-178916861-T-C

NM_006218.2(PIK3CA):c.248T>C;(p.F83S)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


The Swedish childhood tumor biobank: systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden.

Journal Of Translational Medicine
Díaz de Ståhl, Teresita T; Shamikh, Alia A; Mayrhofer, Markus M; Juhos, Szilvester S; Basmaci, Elisa E; Prochazka, Gabriela G; Garcia, Maxime M; Somarajan, Praveen Raj PR; Zielinska-Chomej, Katarzyna K; Illies, Christopher C; Øra, Ingrid I; Siesjö, Peter P; Sandström, Per-Erik PE; Stenman, Jakob J; Sabel, Magnus M; Gustavsson, Bengt B; Kogner, Per P; Pfeifer, Susan S; Ljungman, Gustaf G; Sandgren, Johanna J; Nistér, Monica M
Publication Date: 2023-05-23

Variant appearance in text: PIK3CA: Phe83Ser
PubMed Link: 37221626
Variant Present in the following documents:
  • 12967_2023_4178_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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

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

Variant appearance in text: PIK3CA: 248T>C; Phe83Ser
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.

Molecular Oncology
Nguyen Hoang, Van-Anh VA; Nguyen, Sao Trung ST; Nguyen, Trieu Vu TV; Pham, Thanh Huyen TH; Doan, Phuoc Loc PL; Nguyen Thi, Ngoc Thanh NT; Nguyen, Minh Long ML; Dinh, Thi Cuc TC; Pham, Dinh Hoang DH; Nguyen, Ngoc Mai NM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do, Thanh Thuy Thi TTT; Truong, Dinh Kiet DK; Phan, Minh-Duy MD; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN
Publication Date: 2022-12-10

Variant appearance in text: PIK3CA: F83S
PubMed Link: 36495126
Variant Present in the following documents:
  • MOL2-17-598-s002.xlsx, sheet 1
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: F83S
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_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: 248T>C; F83S
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.

Orphanet Journal Of Rare Diseases
Brouillard, Pascal P; Schlögel, Matthieu J MJ; Homayun Sepehr, Nassim N; Helaers, Raphaël R; Queisser, Angela A; Fastré, Elodie E; Boutry, Simon S; Schmitz, Sandra S; Clapuyt, Philippe P; Hammer, Frank F; Dompmartin, Anne A; Weitz-Tuoretmaa, Annamaria A; Laranne, Jussi J; Pasquesoone, Louise L; Vilain, Catheline C; Boon, Laurence M LM; Vikkula, Miikka M
Publication Date: 2021-06-10

Variant appearance in text: PIK3CA: F83S
PubMed Link: 34112235
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_1898.pdf
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: F83S
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



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: F83S
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7
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: F83S
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: Phe83Ser
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
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: 248T>C; Phe83Ser
PubMed Link: 30761771
Variant Present in the following documents:
  • MGG3-7-na-s003.xlsx, sheet 1
View BVdb publication page



In-depth molecular profiling of the biphasic components of uterine carcinosarcomas.

The Journal Of Pathology. Clinical Research
McConechy, Melissa K MK; Hoang, Lien N LN; Chui, Michael Herman MH; Senz, Janine J; Yang, Winnie W; Rozenberg, Nirit N; Mackenzie, Robertson R; McAlpine, Jessica N JN; Huntsman, David G DG; Clarke, Blaise A BA; Gilks, Cyril Blake CB; Lee, Cheng-Han CH
Publication Date: 2015-07

Variant appearance in text: PIK3CA: F83S
PubMed Link: 27499902
Variant Present in the following documents:
  • CJP2-1-173-s002.xlsx, sheet 1
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: PIK3CA: F83S
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



NRAS germline variant G138R and multiple rare somatic mutations on APC in colorectal cancer patients in Taiwan by next generation sequencing.

Oncotarget
Chang, Pi-Yueh PY; Chen, Jinn-Shiun JS; Chang, Nai-Chung NC; Chang, Shih-Cheng SC; Wang, Mei-Chia MC; Tsai, Shu-Hui SH; Wen, Ying-Hao YH; Tsai, Wen-Sy WS; Chan, Err-Cheng EC; Lu, Jang-Jih JJ
Publication Date: 2016-06-21

Variant appearance in text: PIK3CA: 248T>C
PubMed Link: 27121310
Variant Present in the following documents:
  • Main text
  • oncotarget-07-37566.pdf
View BVdb publication page



Mutational profiling of kinases in glioblastoma.

Bmc Cancer
Bleeker, Fonnet E FE; Lamba, Simona S; Zanon, Carlo C; Molenaar, Remco J RJ; Hulsebos, Theo J M TJ; Troost, Dirk D; van Tilborg, Angela A AA; Vandertop, W Peter WP; Leenstra, Sieger S; van Noorden, Cornelis J F CJ; Bardelli, Alberto A
Publication Date: 2014-09-26

Variant appearance in text: PIK3CA: F83S
PubMed Link: 25256166
Variant Present in the following documents:
  • Main text
  • 12885_2014_Article_4907.pdf
View BVdb publication page