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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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