Publications:

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Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.

Breast Cancer Research : Bcr

Andersen, Lars V B LVB; Larsen, Martin J MJ; Davies, Helen H; Degasperi, Andrea A; Nielsen, Henriette Roed HR; Jensen, Louise A LA; Kroeldrup, Lone L; Gerdes, Anne-Marie AM; Lænkholm, Anne-Vibeke AV; Kruse, Torben A TA; Nik-Zainal, Serena S; Thomassen, Mads M

Publication Date: 2023-06-14

Variant appearance in text: PIK3CA: 3140A>G; H1047R

PubMed Link: 37316882

Variant Present in the following documents:

• 13058_2023_1655_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Phase 1b trial of anti-EGFR antibody JMT101 and Osimertinib in EGFR exon 20 insertion-positive non-small-cell lung cancer.

Nature Communications

Zhao, Shen S; Zhuang, Wu W; Han, Baohui B; Song, Zhengbo Z; Guo, Wei W; Luo, Feng F; Wu, Lin L; Hu, Yi Y; Wang, Huijuan H; Dong, Xiaorong X; Jiang, Da D; Wang, Mingxia M; Miao, Liyun L; Wang, Qian Q; Zhang, Junping J; Fu, Zhenming Z; Huang, Yihua Y; Xu, Chunwei C; Hu, Longyu L; Li, Lei L; Hu, Rong R; Yang, Yang Y; Li, Mengke M; Yang, Xiugao X; Zhang, Li L; Huang, Yan Y; Fang, Wenfeng W

Publication Date: 2023-06-12

Variant appearance in text: PIK3CA: 3140A>G; H1047R

PubMed Link: 37308490

Variant Present in the following documents:

• 41467_2023_39139_MOESM4_ESM.xlsx, sheet 3
• 41467_2023_39139_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Chemotherapy resistant Burkitt lymphoma: Possible novel therapies including CAR-T cell infusion.

Clinical Case Reports

Geerts, Paulus A F PAF; 't Hart, Nils N; Visser, Otto O; Ortiz-Maldonado, Valentín V; Chamuleau, Martine E D MED

Publication Date: 2023-06

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 37260617

Variant Present in the following documents:

• Main text
• CCR3-11-e7361.pdf

View BVdb publication page

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Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Breast Cancer Research : Bcr

Miyashita, Minoru M; Bell, Joshua S K JSK; Wenric, Stephane S; Karaesmen, Ezgi E; Rhead, Brooke B; Kase, Matthew M; Kaneva, Kristiyana K; De La Vega, Francisco M FM; Zheng, Yonglan Y; Yoshimatsu, Toshio F TF; Khramtsova, Galina G; Liu, Fang F; Zhao, Fangyuan F; Howard, Frederick M FM; Nanda, Rita R; Beaubier, Nike N; White, Kevin P KP; Huo, Dezheng D; Olopade, Olufunmilayo I OI

Publication Date: 2023-05-25

Variant appearance in text: PIK3CA: 3140A>G; H1047R

PubMed Link: 37231433

Variant Present in the following documents:

• 13058_2023_1627_MOESM4_ESM.xlsx, sheet 2
• 13058_2023_1627_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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An unusual ectopic thymoma clonal evolution analysis: A case report.

Open Life Sciences

Zhang, Sijia S; Wu, Lu L; Li, Zhenyu Z; Li, Qianwen Q; Zong, Yan Y; Zhu, Kuikui K; Chen, Leichong L; Qin, Haifeng H; Meng, Rui R

Publication Date: 2023

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 37215501

Variant Present in the following documents:

• biol-2022-0600-sm.pdf

View BVdb publication page

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Salivary gland cancer organoids are valid for preclinical genotype-oriented medical precision trials.

Iscience

Ishikawa, Tomohiko T; Ogawa, Takenori T; Shiihara, Masahiro M; Usubuchi, Hajime H; Omori, Yuko Y; Hirose, Katsuya K; Itoh, Taito T; Yoshida, Takuya T; Nakanome, Ayako A; Okoshi, Akira A; Higashi, Kenjiro K; Ishii, Ryo R; Rokugo, Masahiro M; Wakamori, Shun S; Okamura, Yasunobu Y; Kinoshita, Kengo K; Katori, Yukio Y; Furukawa, Toru T

Publication Date: 2023-05-19

Variant appearance in text: PIK3CA: His1047Arg

PubMed Link: 37207275

Variant Present in the following documents:

• mmc7.xlsx, sheet 1
• mmc6.xlsx, sheet 1

View BVdb publication page

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The Role of Biomarkers in Guiding Clinical Decision-Making in Oncology.

Journal Of The Advanced Practitioner In Oncology

Moore, Donald C DC; Guinigundo, Andrew S AS

Publication Date: 2023-04

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 37206905

Variant Present in the following documents:

• Main text
• jadpro-14-15.pdf

View BVdb publication page

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ErbB signalling is a potential therapeutic target for vascular lesions with fibrous component.

Elife

Jauhiainen, Suvi S; Ilmonen, Henna H; Vuola, Pia P; Rasinkangas, Heta H; Pulkkinen, Heidi H HH; Keränen, Sara S; Kiema, Miika M; Liikkanen, Jade J JJ; Laham Karam, Nihay N; Laidinen, Svetlana S; Beter, Mustafa M; Aavik, Einari E; Lappalainen, Kimmo K; Lohi, Jouko J; Aronniemi, Johanna J; Örd, Tiit T; Kaikkonen, Minna U MU; Salminen, Päivi P; Tukiainen, Erkki E; Ylä-Herttuala, Seppo S; Laakkonen, Johanna P JP

Publication Date: 2023-05-18

Variant appearance in text: PIK3CA: 3140A>G; H1047R

PubMed Link: 37199488

Variant Present in the following documents:

• Main text
• elife-82543.pdf

View BVdb publication page

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PIK3CA mutations in breast cancer: A Tunisian series.

Plos One

Ben Rekaya, Mariem M; Sassi, Farah F; Saied, Essya E; Bel Haj Kacem, Linda L; Mansouri, Nada N; Zarrouk, Sinda S; Azouz, Saifeddine S; Rammeh, Soumaya S

Publication Date: 2023

Variant appearance in text: N/A

PubMed Link: 37195967

Variant Present in the following documents:

View BVdb publication page

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Isogenic Mammary Models of Intraductal Carcinoma Reveal Progression to Invasiveness in the Absence of a Non-Obligatory In Situ Stage.

Cancers

Bernhardt, Sarah M SM; Mitchell, Elizabeth E; Stamnes, Stephanie S; Hoffmann, Reuben J RJ; Calhoun, Andrea A; Klug, Alex A; Russell, Tanya D TD; Pennock, Nathan D ND; Walker, Joshua M JM; Schedin, Pepper P

Publication Date: 2023-04-12

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 37190184

Variant Present in the following documents:

• cancers-15-02257.pdf

View BVdb publication page

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Immune desert in MMR-deficient tumors predicts poor responsiveness of immune checkpoint inhibition.

Frontiers In Immunology

Zheng, Guoxing G; Lu, Yingsi Y; Yang, Zheng Z; Chen, Hong H; Liang, Qian Q; Zhu, Qingqing Q; Li, Yan Y; Xiao, Xing X; He, Zhuzhen Z; Zhu, Yifan Y; Li, Bo B; Huang, Leilei L; Dong, Nan N; Hu, Shuang S; Pan, Yihang Y; Zhang, Changhua C; Zhu, Chengming C

Publication Date: 2023

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 37187745

Variant Present in the following documents:

• Main text
• fimmu-14-1142862.pdf

View BVdb publication page

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Revolutionizing drug development: harnessing the potential of organ-on-chip technology for disease modeling and drug discovery.

Frontiers In Pharmacology

Sunildutt, Naina N; Parihar, Pratibha P; Chethikkattuveli Salih, Abdul Rahim AR; Lee, Sang Ho SH; Choi, Kyung Hyun KH

Publication Date: 2023

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 37180709

Variant Present in the following documents:

• Main text
• fphar-14-1139229.pdf

View BVdb publication page

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Experimental Murine Models for Colorectal Cancer Research.

Cancers

Neto, Íris Í; Rocha, João J; Gaspar, Maria Manuela MM; Reis, Catarina P CP

Publication Date: 2023-04-30

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 37174036

Variant Present in the following documents:

• Main text

View BVdb publication page

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Circulating tumor DNA reveals mechanisms of lorlatinib resistance in patients with relapsed/refractory ALK-driven neuroblastoma.

Nature Communications

Berko, Esther R ER; Witek, Gabriela M GM; Matkar, Smita S; Petrova, Zaritza O ZO; Wu, Megan A MA; Smith, Courtney M CM; Daniels, Alex A; Kalna, Joshua J; Kennedy, Annie A; Gostuski, Ivan I; Casey, Colleen C; Krytska, Kateryna K; Gerelus, Mark M; Pavlick, Dean D; Ghazarian, Susan S; Park, Julie R JR; Marachelian, Araz A; Maris, John M JM; Goldsmith, Kelly C KC; Radhakrishnan, Ravi R; Lemmon, Mark A MA; Mossé, Yaël P YP

Publication Date: 2023-05-05

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 37147298

Variant Present in the following documents:

• Main text
• 41467_2023_38195_MOESM3_ESM.xlsx, sheet 1
• 41467_2023_Article_38195.pdf

View BVdb publication page

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A Mosaic PIK3CA Mutation in a Moroccan Female: Exploring the Diagnostic Challenges of PIK3CA-Related Overgrowth Spectrum.

Cureus

Ahakoud, Mohamed M; Daha Belghiti, Hanae H; Ihlal, Hajar H; Bouguenouch, Laila L

Publication Date: 2023-04

Variant appearance in text: PIK3CA: 3140A>G

PubMed Link: 37139028

Variant Present in the following documents:

• cureus-0015-00000036996.pdf

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: H1047R; rs121913279

PubMed Link: 37116492

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

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: H1047R

PubMed Link: 37101291

Variant Present in the following documents:

• Main text
• 13073_2023_1181_MOESM1_ESM.pdf
• 13073_2023_Article_1181.pdf

View BVdb publication page

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Whole exome sequencing analysis of canine urothelial carcinomas without BRAF V595E mutation: Short in-frame deletions in BRAF and MAP2K1 suggest alternative mechanisms for MAPK pathway disruption.

Plos Genetics

Thomas, Rachael R; Wiley, Claire A CA; Droste, Emma L EL; Robertson, James J; Inman, Brant A BA; Breen, Matthew M

Publication Date: 2023-04-20

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 37079639

Variant Present in the following documents:

• Main text
• pgen.1010575.pdf

View BVdb publication page

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A Report of a Rare Case of Multiple Fibro adipose Venous Anomaly.

Journal Of Orthopaedic Case Reports

Kumar, L Dhruva LD; Gopurathingal, Anto A; Chinder, Pramod P; Hindiskere, Suraj S

Publication Date: 2022-06

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 37065525

Variant Present in the following documents:

• JOCR-12-19.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
• 41467_2023_37547_MOESM10_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM10_ESM.xlsx, sheet 4

View BVdb publication page

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Comparative oncology: overcoming human cancer through companion animal studies.

Experimental & Molecular Medicine

Oh, Ji Hoon JH; Cho, Je-Yoel JY

Publication Date: 2023-04-03

Variant appearance in text: PIK3CA: 3140A>G

PubMed Link: 37009802

Variant Present in the following documents:

• 12276_2023_Article_977.pdf

View BVdb publication page

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Glutamine Starvation Affects Cell Cycle, Oxidative Homeostasis and Metabolism in Colorectal Cancer Cells.

Antioxidants (Basel, Switzerland)

Spada, Martina M; Piras, Cristina C; Diana, Giulia G; Leoni, Vera Piera VP; Frau, Daniela Virginia DV; Serreli, Gabriele G; Simbula, Gabriella G; Loi, Roberto R; Noto, Antonio A; Murgia, Federica F; Caria, Paola P; Atzori, Luigi L

Publication Date: 2023-03-10

Variant appearance in text: PIK3CA: 3140A>G

PubMed Link: 36978930

Variant Present in the following documents:

• antioxidants-12-00683.pdf

View BVdb publication page

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Subtyping-based platform guides precision medicine for heavily pretreated metastatic triple-negative breast cancer: The FUTURE phase II umbrella clinical trial.

Cell Research

Liu, Yin Y; Zhu, Xiu-Zhi XZ; Xiao, Yi Y; Wu, Song-Yang SY; Zuo, Wen-Jia WJ; Yu, Qiang Q; Cao, A-Yong AY; Li, Jun-Jie JJ; Yu, Ke-Da KD; Liu, Guang-Yu GY; Wu, Jiong J; Sun, Tao T; Cui, Jiu-Wei JW; Lv, Zheng Z; Li, Hui-Ping HP; Zhu, Xiao-Yu XY; Jiang, Yi-Zhou YZ; Wang, Zhong-Hua ZH; Shao, Zhi-Ming ZM

Publication Date: 2023-03-27

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 36973538

Variant Present in the following documents:

• Main text
• 41422_2023_Article_795.pdf

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: 3140A>G; H1047R

PubMed Link: 36969747

Variant Present in the following documents:

• crc-22-0258-s09.xlsx, sheet 1
• crc-22-0258-s08.xlsx, sheet 1

View BVdb publication page

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Pharmaceutical Reactivation of Attenuated Apoptotic Pathways Leads to Elimination of Osimertinib Drug-Tolerant Cells.

Cancer Research Communications

Martin, Matthew J MJ; Floc'h, Nicolas N; Pfeifer, Matthias M; Criscione, Steven S; Delpuech, Oona O; Gagrica, Sladjana S; Yao, Yi Y; McDermott, Ultan U; Smith, Paul D PD

Publication Date: 2022-10

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 36969743

Variant Present in the following documents:

• Main text
• crc-22-0066.pdf

View BVdb publication page

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: PIK3CA: H1047R; rs121913279

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Direct GDP-KRASG12C inhibitors and mechanisms of resistance: the tip of the iceberg.

Therapeutic Advances In Medical Oncology

Rosen, Joshua C JC; Sacher, Adrian A; Tsao, Ming-Sound MS

Publication Date: 2023

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 36950276

Variant Present in the following documents:

• 10.1177_17588359231160141.pdf

View BVdb publication page

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Relapse timing is associated with distinct evolutionary dynamics in DLBCL.

Medrxiv : The Preprint Server For Health Sciences

Hilton, Laura K LK; Ngu, Henry S HS; Collinge, Brett B; Dreval, Kostiantyn K; Ben-Neriah, Susana S; Rushton, Christopher K CK; Wong, Jasper C H JCH; Cruz, Manuela M; Roth, Andrew A; Boyle, Merrill M; Meissner, Barbara B; Slack, Graham W GW; Farinha, Pedro P; Craig, Jeffrey W JW; Gerrie, Alina S AS; Freeman, Ciara L CL; Villa, Diego D; Crump, Michael M; Shepherd, Lois L; Hay, Annette E AE; Kuruvilla, John J; Savage, Kerry J KJ; Kridel, Robert R; Karsan, Aly A; Marra, Marco A MA; Sehn, Laurie H LH; Steidl, Christian C; Morin, Ryan D RD; Scott, David W DW

Publication Date: 2023-03-08

Variant appearance in text: PIK3CA: 3140A>G; H1047R; rs121913279

PubMed Link: 36945587

Variant Present in the following documents:

• media-1.xlsx, sheet 14

View BVdb publication page

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PIK3CA and PIK3R1 tumor mutational landscape in a pan-cancer patient cohort and its association with pathway activation and treatment efficacy.

Scientific Reports

Tharin, Zoé Z; Richard, Corentin C; Derangère, Valentin V; Ilie, Alis A; Arnould, Laurent L; Ghiringhelli, François F; Boidot, Romain R; Ladoire, Sylvain S

Publication Date: 2023-03-18

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 36934165

Variant Present in the following documents:

• Main text
• 41598_2023_Article_31593.pdf

View BVdb publication page

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Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine

Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW

Publication Date: 2023-03-16

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 36928815

Variant Present in the following documents:

• 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

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Targeting the Ezrin Adaptor Protein Sensitizes Metastatic Breast Cancer Cells to Chemotherapy and Reduces Neoadjuvant Therapy-induced Metastasis.

Cancer Research Communications

Hoskin, Victoria V; Ghaffari, Abdi A; Laight, Brian J BJ; SenGupta, Sandip S; Madarnas, Yolanda Y; Nicol, Christopher J B CJB; Elliott, Bruce E BE; Varma, Sonal S; Greer, Peter A PA

Publication Date: 2022-06

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 36923551

Variant Present in the following documents:

• crc-21-0117-s01.pdf

View BVdb publication page

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: PIK3CA: 3140A>G; His1047Arg; rs121913279

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1
• crc-22-0136-s01.xlsx, sheet 3

View BVdb publication page

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The molecular landscape of breast mucoepidermoid carcinoma.

Cancer Medicine

Venetis, Konstantinos K; Sajjadi, Elham E; Ivanova, Mariia M; Andaloro, Silvia S; Pessina, Simona S; Zanetti, Chiara C; Ranghiero, Alberto A; Citelli, Gabriele G; Rossi, Chiara C; Lucioni, Marco M; Malapelle, Umberto U; Pagni, Fabio F; Barberis, Massimo M; Guerini-Rocco, Elena E; Viale, Giuseppe G; Fusco, Nicola N

Publication Date: 2023-03-14

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 36916425

Variant Present in the following documents:

• Main text
• CAM4-12-10725.pdf

View BVdb publication page

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Pharmacogenomic profiling reveals molecular features of chemotherapy resistance in IDH wild-type primary glioblastoma.

Genome Medicine

Nam, Yoonhee Y; Koo, Harim H; Yang, Yingxi Y; Shin, Sang S; Zhu, Zhihan Z; Kim, Donggeon D; Cho, Hee Jin HJ; Mu, Quanhua Q; Choi, Seung Won SW; Sa, Jason K JK; Seo, Yun Jee YJ; Kim, Yejin Y; Lee, Kyoungmin K; Oh, Jeong-Woo JW; Kwon, Yong-Jun YJ; Park, Woong-Yang WY; Kong, Doo-Sik DS; Seol, Ho Jun HJ; Lee, Jung-Il JI; Park, Chul-Kee CK; Lee, Hye Won HW; Yoon, Yeup Y; Wang, Jiguang J

Publication Date: 2023-03-13

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 36915208

Variant Present in the following documents:

• 13073_2023_1165_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Single-cell sequencing reveals that endothelial cells, EndMT cells and mural cells contribute to the pathogenesis of cavernous malformations.

Experimental & Molecular Medicine

Ren, Jian J; Xiao, Xiao X; Li, Ruofei R; Lv, Cheng C; Zhang, Yu Y; Wang, Leiming L; Hong, Tao T; Zhang, Hongqi H; Wang, Yibo Y

Publication Date: 2023-03-13

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 36914857

Variant Present in the following documents:

• Main text
• 12276_2023_Article_962.pdf

View BVdb publication page

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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Antitumor activity of the PI3K δ-sparing inhibitor MEN1611 in PIK3CA mutated, trastuzumab-resistant HER2 + breast cancer.

Breast Cancer Research And Treatment

Fiascarelli, Alessio A; Merlino, Giuseppe G; Capano, Stefania S; Talucci, Simone S; Bisignano, Diego D; Bressan, Alessandro A; Bellarosa, Daniela D; Carrisi, Corrado C; Paoli, Alessandro A; Bigioni, Mario M; Tunici, Patrizia P; Irrissuto, Clelia C; Salerno, Massimiliano M; Arribas, Joaquin J; de Stanchina, Elisa E; Scaltriti, Maurizio M; Binaschi, Monica M

Publication Date: 2023-03-13

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 36913051

Variant Present in the following documents:

• Main text
• 10549_2023_Article_6895.pdf

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Discovering Synergistic Compounds with BYL-719 in PI3K Overactivated Basal-like PDXs.

Cancers

Boyd, David C DC; Zboril, Emily K EK; Olex, Amy L AL; Leftwich, Tess J TJ; Hairr, Nicole S NS; Byers, Holly A HA; Valentine, Aaron D AD; Altman, Julia E JE; Alzubi, Mohammad A MA; Grible, Jacqueline M JM; Turner, Scott A SA; Ferreira-Gonzalez, Andrea A; Dozmorov, Mikhail G MG; Harrell, J Chuck JC

Publication Date: 2023-03-03

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 36900375

Variant Present in the following documents:

• Main text
• cancers-15-01582.pdf

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Cooperativity between H3.3K27M and PDGFRA poses multiple therapeutic vulnerabilities in human iPSC-derived diffuse midline glioma avatars.

Biorxiv : The Preprint Server For Biology

Skinner, Kasey R KR; Koga, Tomoyuki T; Miki, Shunichiro S; Gruener, Robert F RF; Grigore, Florina-Nicoleta FN; Torii, Emma H EH; Seelig, Davis M DM; Suzuki, Yuta Y; Kawauchi, Daisuke D; Lin, Benjamin B; Malicki, Denise M DM; Chen, Clark C CC; Benveniste, Etty N EN; Patel, Rakesh P RP; McFarland, Braden C BC; Huang, R Stephanie RS; Jones, Chris C; Mackay, Alan A; Miller, C Ryan CR; Furnari, Frank B FB

Publication Date: 2023-02-24

Variant appearance in text: PIK3CA: H1047R

PubMed Link: 36865329

Variant Present in the following documents:

• media-2.xlsx, sheet 3

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An integrated genetic analysis of epileptogenic brain malformed lesions.

Acta Neuropathologica Communications

Fujita, Atsushi A; Kato, Mitsuhiro M; Sugano, Hidenori H; Iimura, Yasushi Y; Suzuki, Hiroharu H; Tohyama, Jun J; Fukuda, Masafumi M; Ito, Yosuke Y; Baba, Shimpei S; Okanishi, Tohru T; Enoki, Hideo H; Fujimoto, Ayataka A; Yamamoto, Akiyo A; Kawamura, Kentaro K; Kato, Shinsuke S; Honda, Ryoko R; Ono, Tomonori T; Shiraishi, Hideaki H; Egawa, Kiyoshi K; Shirai, Kentaro K; Yamamoto, Shinji S; Hayakawa, Itaru I; Kawawaki, Hisashi H; Saida, Ken K; Tsuchida, Naomi N; Uchiyama, Yuri Y; Hamanaka, Kohei K; Miyatake, Satoko S; Mizuguchi, Takeshi T; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Miyake, Noriko N; Kakita, Akiyoshi A; Matsumoto, Naomichi N

Publication Date: 2023-03-02

Variant appearance in text: PIK3CA: His1047Arg

PubMed Link: 36864519

Variant Present in the following documents:

• 40478_2023_1532_MOESM1_ESM.pdf

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