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