Publications:

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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: Gly1049Arg

PubMed Link: 37221626

Variant Present in the following documents:

• 12967_2023_4178_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A living biobank of patient-derived ductal carcinoma in situ mouse-intraductal xenografts identifies risk factors for invasive progression.

Cancer Cell

Hutten, Stefan J SJ; de Bruijn, Roebi R; Lutz, Catrin C; Badoux, Madelon M; Eijkman, Timo T; Chao, Xue X; Ciwinska, Marta M; Sheinman, Michael M; Messal, Hendrik H; Herencia-Ropero, Andrea A; Kristel, Petra P; Mulder, Lennart L; van der Waal, Rens R; Sanders, Joyce J; Almekinders, Mathilde M MM; Llop-Guevara, Alba A; Davies, Helen R HR; van Haren, Matthijs J MJ; Martin, Nathaniel I NI; Behbod, Fariba F; Nik-Zainal, Serena S; Serra, Violeta V; van Rheenen, Jacco J; Lips, Esther H EH; Wessels, Lodewyk F A LFA; , ; Wesseling, Jelle J; Scheele, Colinda L G J CLGJ; Jonkers, Jos J

Publication Date: 2023-04-24

Variant appearance in text: PIK3CA: G1049R; rs121913277

PubMed Link: 37116492

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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: G1049R

PubMed Link: 37101291

Variant Present in the following documents:

• 13073_2023_1181_MOESM1_ESM.pdf

View BVdb publication page

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Dynamics of Sequence and Structural Cell-Free DNA Landscapes in Small-Cell Lung Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Sivapalan, Lavanya L; Iams, Wade T WT; Belcaid, Zineb Z; Scott, Susan C SC; Niknafs, Noushin N; Balan, Archana A; White, James R JR; Kopparapu, Prasad P; Cann, Christopher C; Landon, Blair V BV; Pereira, Gavin G; Velculescu, Victor E VE; Hann, Christine L CL; Lovly, Christine M CM; Anagnostou, Valsamo V

Publication Date: 2023-04-18

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 37071497

Variant Present in the following documents:

• 2310.pdf
• ccr-22-2242_ts1-9_suppts1-9.xlsx, sheet 6

View BVdb publication page

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Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.

Cancer Research Communications

Frank, Malene S MS; Andersen, Christina S A CSA; Ahlborn, Lise B LB; Pallisgaard, Niels N; Bodtger, Uffe U; Gehl, Julie J

Publication Date: 2022-10

Variant appearance in text: PIK3CA: 3145G>C; G1049R

PubMed Link: 36969747

Variant Present in the following documents:

• crc-22-0258-s08.xlsx, sheet 1

View BVdb publication page

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Frequent PIK3CA mutation in normal endometrial gland drives spheroid formation and may be involved in stem cell propagation.

Cancer Science

Sato, Seiya S; Nakayama, Kentaro K; Kanno, Kosuke K; Sultana, Razia R; Ishikawa, Masako M; Ishibashi, Tomoka T; Yamashita, Hitomi H; Kyo, Satoru S

Publication Date: 2023-02-26

Variant appearance in text: PIK3CA: 3145G>C; G1049R

PubMed Link: 36843384

Variant Present in the following documents:

• CAS-114-2335.pdf

View BVdb publication page

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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>C; Gly1049Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX

Publication Date: 2023-01-24

Variant appearance in text: PIK3CA: 3145G>C; Gly1049Arg

PubMed Link: 36693175

Variant Present in the following documents:

• ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3

View BVdb publication page

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Molecular profiling of male breast cancer by multigene panel testing: Implications for precision oncology.

Frontiers In Oncology

Valentini, Virginia V; Silvestri, Valentina V; Bucalo, Agostino A; Conti, Giulia G; Karimi, Mina M; Di Francesco, Linda L; Pomati, Giulia G; Mezi, Silvia S; Cerbelli, Bruna B; Pignataro, Maria Gemma MG; Nicolussi, Arianna A; Coppa, Anna A; D'Amati, Giulia G; Giannini, Giuseppe G; Ottini, Laura L

Publication Date: 2022

Variant appearance in text: PIK3CA: 3145G>C; Gly1049Arg

PubMed Link: 36686738

Variant Present in the following documents:

• Main text
• fonc-12-1092201.pdf
• Table_3.xlsx, sheet 1

View BVdb publication page

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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: G1049R

PubMed Link: 36635288

Variant Present in the following documents:

• Main text
• 41467_2023_Article_35789.pdf
• 41467_2023_35789_MOESM2_ESM.pdf
• 41467_2023_35789_MOESM1_ESM.pdf

View BVdb publication page

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Development of a Novel NGS Methodology for Ultrasensitive Circulating Tumor DNA Detection as a Tool for Early-Stage Breast Cancer Diagnosis.

International Journal Of Molecular Sciences

Jiménez-Rodríguez, Begoña B; Alba-Bernal, Alfonso A; López-López, Esperanza E; Quirós-Ortega, María Elena ME; Carbajosa, Guillermo G; Garrido-Aranda, Alicia A; Álvarez, Martina M; Godoy-Ortiz, Ana A; Queipo-Ortuño, María Isabel MI; Vicioso, Luis L; Díaz-Córdoba, Gema G; Roldán-Díaz, María Dunia MD; Velasco-Suelto, Jesús J; Hernando, Cristina C; Bermejo, Begoña B; Julve-Parreño, Ana A; Lluch, Ana A; Pascual, Javier J; Comino-Méndez, Iñaki I; Alba, Emilio E

Publication Date: 2022-12-21

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 36613590

Variant Present in the following documents:

• ijms-24-00146.pdf

View BVdb publication page

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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: G1049R

PubMed Link: 36561320

Variant Present in the following documents:

• Main text
• Table3.xlsx, sheet 1
• Table2.xlsx, sheet 5
• fgene-13-1071352.pdf

View BVdb publication page

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The Clinical Utility of Droplet Digital PCR for Profiling Circulating Tumor DNA in Breast Cancer Patients.

Diagnostics (Basel, Switzerland)

Gezer, Ugur U; Bronkhorst, Abel J AJ; Holdenrieder, Stefan S

Publication Date: 2022-12-05

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 36553049

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.

Nature Communications

Sivakumar, Smruthy S; Jin, Dexter X DX; Tukachinsky, Hanna H; Murugesan, Karthikeyan K; McGregor, Kimberly K; Danziger, Natalie N; Pavlick, Dean D; Gjoerup, Ole O; Ross, Jeffrey S JS; Harmon, Robert R; Chung, Jon J; Decker, Brennan B; Dennis, Lucas L; Frampton, Garrett M GM; Molinero, Luciana L; Oesterreich, Steffi S; Venstrom, Jeffrey M JM; Oxnard, Geoffrey R GR; Hegde, Priti S PS; Sokol, Ethan S ES

Publication Date: 2022-12-05

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 36470901

Variant Present in the following documents:

• 41467_2022_35245_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Targeting the FGF/FGFR axis and its co-alteration allies.

Esmo Open

Uehara, Y Y; Ikeda, S S; Kim, K H KH; Lim, H J HJ; Adashek, J J JJ; Persha, H E HE; Okamura, R R; Lee, S S; Sicklick, J K JK; Kato, S S; Kurzrock, R R

Publication Date: 2022-11-28

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 36455506

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

View BVdb publication page

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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: G1049R

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Human metastatic cholangiocarcinoma patient-derived xenografts and tumoroids for preclinical drug evaluation.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Serra-Camprubí, Queralt Q; Verdaguer, Helena H; Oliveros, Winona W; Lupión-Garcia, Núria N; Llop-Guevara, Alba A; Molina, Cristina C; Vila-Casadesús, Maria M; Turpin, Anthony A; Neuzillet, Cindy C; Frigola, Joan J; Querol, Jessica J; Yáñez-Bartolomé, Mariana M; Castet, Florian F; Fabregat-Franco, Carles C; Escudero-Iriarte, Carmen C; Escorihuela, Marta M; Arenas, Enrique J EJ; Bernado-Morales, Cristina C; Haro, Noemí N; Giles, Francis J FJ; Pozo, Oscar J OJ; Miquel, Josep M JM; Nuciforo, Paolo G PG; Vivancos, Ana A; Melé, Marta M; Serra, Violeta V; Arribas, Joaquín J; Tabernero, Josep J; Peiró, Sandra S; Macarulla, Teresa T; Tian, Tian V TV

Publication Date: 2022-11-14

Variant appearance in text: PIK3CA: 3145G>C; G1049R

PubMed Link: 36374558

Variant Present in the following documents:

• ccr-22-2551_supplementary_table_s4_suppts4.xlsx, sheet 9

View BVdb publication page

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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: 3145G>C; G1049R

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Biology and targetability of the extended spectrum of PIK3CA mutations (PIK3CAm) detected in breast carcinoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Rugo, Hope S HS; Raskina, Kira K; Schrock, Alexa B AB; Madison, Russell W RW; Graf, Ryon P RP; Sokol, Ethan S ES; Sivakumar, Smruthy S SS; Lee, Jessica K JK; Fisher, Virginia V; Oxnard, Geoffrey R GR; Tukachinsky, Hanna H

Publication Date: 2022-11-02

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 36321996

Variant Present in the following documents:

• Main text
• 1056.pdf

View BVdb publication page

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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: 3145G>C; G1049R

PubMed Link: 36311816

Variant Present in the following documents:

• crc-22-0314-s02.xlsx, sheet 6

View BVdb publication page

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The orchestrated signaling by PI3Kα and PTEN at the membrane interface.

Computational And Structural Biotechnology Journal

Kotzampasi, Danai Maria DM; Premeti, Kyriaki K; Papafotika, Alexandra A; Syropoulou, Vasiliki V; Christoforidis, Savvas S; Cournia, Zoe Z; Leondaritis, George G

Publication Date: 2022

Variant appearance in text: PI3K: G1049R

PubMed Link: 36284707

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology

Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W

Publication Date: 2022

Variant appearance in text: PIK3CA: 3145G>C; G1049R

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Cancer Medicine

Vormittag-Nocito, Erica E; Kumar, Ravindra R; Narayan, Kunwar Digvijay KD; Chen, Zhengjia Z; David, Odile O; Behm, Frederick F; Mohapatra, Gayatry G

Publication Date: 2022-09-20

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 36125633

Variant Present in the following documents:

• Main text
• CAM4-12-4042-s001.xlsx, sheet 1
• CAM4-12-4042.pdf

View BVdb publication page

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EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine

Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W

Publication Date: 2022-09-19

Variant appearance in text: PIK3CA: 3145G>C; G1049R

PubMed Link: 36123678

Variant Present in the following documents:

• 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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The circulating tumor DNA (ctDNA) alteration level predicts therapeutic response in metastatic breast cancer: Novel prognostic indexes based on ctDNA.

Breast (Edinburgh, Scotland)

Liu, Binliang B; Hu, Zheyu Z; Ran, Jialu J; Xie, Ning N; Tian, Can C; Tang, Yu Y; Ouyang, Quchang Q

Publication Date: 2022-10

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 35926241

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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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: 3145G>C; Gly1049Arg; rs121913277

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology

Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J

Publication Date: 2022

Variant appearance in text: PIK3CA: 3145G>C; G1049R

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Mutational landscape of pan-cancer patients with PIK3CA alterations in Chinese population.

Bmc Medical Genomics

Huang, Qingfeng Q; Zhou, Yang Y; Wang, Bowen B; Zhao, Yi Y; Zhang, Fengxia F; Ding, Bowen B

Publication Date: 2022-07-01

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 35778737

Variant Present in the following documents:

• 12920_2022_Article_1297.pdf

View BVdb publication page

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High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.

Npj Breast Cancer

Kostecka, Anna A; Nowikiewicz, Tomasz T; Olszewski, Paweł P; Koczkowska, Magdalena M; Horbacz, Monika M; Heinzl, Monika M; Andreou, Maria M; Salazar, Renato R; Mair, Theresa T; Madanecki, Piotr P; Gucwa, Magdalena M; Davies, Hanna H; Skokowski, Jarosław J; Buckley, Patrick G PG; Pęksa, Rafał R; Śrutek, Ewa E; Szylberg, Łukasz Ł; Hartman, Johan J; Jankowski, Michał M; Zegarski, Wojciech W; Tiemann-Boege, Irene I; Dumanski, Jan P JP; Piotrowski, Arkadiusz A

Publication Date: 2022-06-29

Variant appearance in text: PIK3CA: Gly1049Arg

PubMed Link: 35768433

Variant Present in the following documents:

• 41523_2022_443_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Anthracycline-Free Neoadjuvant Treatment in Patients with HER2-Positive Breast Cancer: Real-Life Use of Pertuzumab, Trastuzumab and Taxanes Association with an Exploratory Analysis of PIK3CA Mutational Status.

Cancers

Irelli, Azzurra A; Parisi, Alessandro A; D'Orazio, Carla C; Sidoni, Tina T; Rotondaro, Silvia S; Patruno, Leonardo L; Pavese, Francesco F; Bafile, Alberto A; Resta, Valter V; Pizzorno, Laura L; Ciuffetelli, Virginia V; Dal Mas, Antonella A; Calvisi, Giuseppe G; Di Sibio, Alessandra A; Marzullo, Anna A; Zelli, Veronica V; Compagnoni, Chiara C; Tessitore, Alessandra A; Alesse, Edoardo E; Ficorella, Corrado C; Cortellini, Alessio A; Cannita, Katia K

Publication Date: 2022-06-18

Variant appearance in text: PIK3CA: 3145G>C

PubMed Link: 35740668

Variant Present in the following documents:

• cancers-14-03003.pdf

View BVdb publication page

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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: G1049R

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Fulvestrant plus capivasertib versus placebo after relapse or progression on an aromatase inhibitor in metastatic, oestrogen receptor-positive, HER2-negative breast cancer (FAKTION): overall survival, updated progression-free survival, and expanded biomarker analysis from a randomised, phase 2 trial.

The Lancet. Oncology

Howell, Sacha J SJ; Casbard, Angela A; Carucci, Margherita M; Ingarfield, Kate K; Butler, Rachel R; Morgan, Sian S; Meissner, Magdalena M; Bale, Catherine C; Bezecny, Pavel P; Moon, Sarah S; Twelves, Chris C; Venkitaraman, Ramachandran R; Waters, Simon S; de Bruin, Elza C EC; Schiavon, Gaia G; Foxley, Andrew A; Jones, Robert H RH

Publication Date: 2022-07

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 35671774

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: PIK3CA: 3145G>C; G1049R

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

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Proteogenomic characterization of 2002 human cancers reveals pan-cancer molecular subtypes and associated pathways.

Nature Communications

Zhang, Yiqun Y; Chen, Fengju F; Chandrashekar, Darshan S DS; Varambally, Sooryanarayana S; Creighton, Chad J CJ

Publication Date: 2022-05-13

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 35562349

Variant Present in the following documents:

• 41467_2022_30342_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal

Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H

Publication Date: 2022-04

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 35550340

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Analysis of PIK3CA Mutation Concordance and Frequency in Primary and Different Distant Metastatic Sites in Breast Cancer.

Cancer Research And Treatment

Park, Jieun J; Cho, Soo Youn SY; Chang, Eun Sol ES; Sung, Minjung M; Song, Ji-Young JY; Jung, Kyungsoo K; Kim, Sung-Su SS; Shin, Young Kee YK; Choi, Yoon-La YL

Publication Date: 2022-04-20

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 35468270

Variant Present in the following documents:

• Main text
• crt-2022-001.pdf

View BVdb publication page

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Nuclear translocation of p85β promotes tumorigenesis of PIK3CA helical domain mutant cancer.

Nature Communications

Hao, Yujun Y; He, Baoyu B; Wu, Liping L; Li, Yamu Y; Wang, Chao C; Wang, Ting T; Sun, Longci L; Zhang, Yanhua Y; Zhan, Yangyang Y; Zhao, Yiqing Y; Markowitz, Sanford S; Veigl, Martina M; Conlon, Ronald A RA; Wang, Zhenghe Z

Publication Date: 2022-04-13

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 35418124

Variant Present in the following documents:

• Main text
• 41467_2022_29585_MOESM1_ESM.pdf
• 41467_2022_Article_29585.pdf

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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.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: PIK3CA: 3145G>C; G1049R

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

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Ensemble of nucleic acid absolute quantitation modules for copy number variation detection and RNA profiling.

Nature Communications

Wu, Lucia Ruojia LR; Dai, Peng P; Wang, Michael Xiangjiang MX; Chen, Sherry Xi SX; Cohen, Evan N EN; Jayachandran, Gitanjali G; Zhang, Jinny Xuemeng JX; Serrano, Angela V AV; Xie, Nina Guanyi NG; Ueno, Naoto T NT; Reuben, James M JM; Barcenas, Carlos H CH; Zhang, David Yu DY

Publication Date: 2022-04-04

Variant appearance in text: PIK3CA: 3145G>C; G1049R

PubMed Link: 35379811

Variant Present in the following documents:

• 41467_2022_29487_MOESM6_ESM.xlsx, sheet 3

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PIK3CA Mutations Drive Therapeutic Resistance in Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer.

Jco Precision Oncology

Rasti, Aryana R AR; Guimaraes-Young, Amy A; Datko, Farrah F; Borges, Virginia F VF; Aisner, Dara L DL; Shagisultanova, Elena E

Publication Date: 2022-03

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 35357905

Variant Present in the following documents:

• po-6-e2100370.pdf

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Developmental venous anomalies are a genetic primer for cerebral cavernous malformations.

Nature Cardiovascular Research

Snellings, Daniel A DA; Girard, Romuald R; Lightle, Rhonda R; Srinath, Abhinav A; Romanos, Sharbel S; Li, Ying Y; Chen, Chang C; Ren, Aileen A AA; Kahn, Mark L ML; Awad, Issam A IA; Marchuk, Douglas A DA

Publication Date: 2022-03

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 35355835

Variant Present in the following documents:

• NIHMS1777926-supplement-1777926_Sup_tables.xlsx, sheet 1

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The Landscape of Actionable Genomic Alterations by Next-Generation Sequencing in Tumor Tissue Versus Circulating Tumor DNA in Chinese Patients With Non-Small Cell Lung Cancer.

Frontiers In Oncology

Cai, Jun J; Jiang, Huihui H; Li, Shuqing S; Yan, Xiaoxia X; Wang, Meng M; Li, Na N; Zhu, Cuimin C; Dong, Hui H; Wang, Dongjuan D; Xu, Yue Y; Xie, Hui H; Wu, Shouxin S; Lou, Jingwei J; Zhao, Jiangman J; Li, Qingshan Q

Publication Date: 2021

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 35273907

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

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Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Orphanet Journal Of Rare Diseases

Pena-Couso, Laura L; Ercibengoa, María M; Mercadillo, Fátima F; Gómez-Sánchez, David D; Inglada-Pérez, Lucía L; Santos, María M; Lanillos, Javier J; Gutiérrez-Abad, David D; Hernández, Almudena A; Carbonell, Pablo P; Letón, Rocío R; Robledo, Mercedes M; Rodríguez-Antona, Cristina C; Perea, José J; Urioste, Miguel M; ,

Publication Date: 2022-02-28

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 35227301

Variant Present in the following documents:

• Main text
• 13023_2021_2079_MOESM1_ESM.pdf
• 13023_2021_Article_2079.pdf

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Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports

Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C

Publication Date: 2022-02-09

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 35140316

Variant Present in the following documents:

• 41598_2022_6239_MOESM1_ESM.xlsx, sheet 1

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Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports

Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C

Publication Date: 2022-02-09

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 35140316

Variant Present in the following documents:

• 41598_2022_6239_MOESM1_ESM.xlsx, sheet 1

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An Analysis of the Pathogenic Genes and Mutation Sites of Macrodactyly.

Pharmacogenomics And Personalized Medicine

Li, Jian-Feng JF; Tian, Guang-Lei GL; Pan, Hui H; Zhang, Wen-Tong WT; Li, Da-Cun DC; Liu, Jing-Da JD; Zhao, Liang L; Li, Hai-Lei HL

Publication Date: 2022

Variant appearance in text: PIK3CA: 3145G>C

PubMed Link: 35125881

Variant Present in the following documents:

• Main text
• pgpm-15-55.pdf

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Role of ctDNA in Breast Cancer.

Cancers

Sant, Marta M; Bernat-Peguera, Adrià A; Felip, Eudald E; Margelí, Mireia M

Publication Date: 2022-01-09

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 35053474

Variant Present in the following documents:

• Main text

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Role of ctDNA in Breast Cancer.

Cancers

Sant, Marta M; Bernat-Peguera, Adrià A; Felip, Eudald E; Margelí, Mireia M

Publication Date: 2022-01-09

Variant appearance in text: PIK3CA: G1049R

PubMed Link: 35053474

Variant Present in the following documents:

• Main text

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The dominant TP53 hotspot mutation in -mutant astrocytoma, R273C, has distinctive pathologic features and sex-specific prognostic implications.

Neuro-Oncology Advances

Marker, Daniel F DF; Agnihotri, Sameer S; Amankulor, Nduka N; Murdoch, Geoffrey H GH; Pearce, Thomas M TM

Publication Date: 2022

Variant appearance in text: PIK3CA: 3145G>C; G1049R

PubMed Link: 35047821

Variant Present in the following documents:

• vdab182_suppl_supplementary_table_s1.xlsx, sheet 1
• vdab182_suppl_supplementary_table_s1.xlsx, sheet 3

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