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1. Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations NSTL国家科技图书文献中心

Andreoti, Themis-Are... |  Maiolo, Massimo... -  《American journal of medical genetics,Part A》 - 2025,197A(2) - e63883~e63883 - 共14页

摘要:PIK3CA variants are known to cause vascular |  spectrum, the location within the PIK3CA gene, and the |  (Illumina). All consenting patients with PIK3CA variants |  available genetic results by June 2022. PIK3CA variants (n |  list of pathogenic PIK3CA variants associated with
关键词: pathogenic variant |  PI3K |  PIK3CA |  somatic mutation |  vascular malformation

2. Clinicopathological and Molecular Insights into Primary Retroperitoneal Squamous Cell Carcinoma: HPV Association and Discovery of Recurrent PIK3CA E545K Mutation NSTL国家科技图书文献中心

Kim, Han gyeol |  Moon, Sung kyoung... -  《Anticancer Research》 - 2025,45(2) - 719~731 - 共13页

摘要:-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA |  recurrent PIK3CA mutation in HPV-associated PRSCCs. Our |  studies are warranted clarify whether PIK3CA E545K | Background/Aim: Primary retroperitoneal |  squamous cell carcinoma (PRSCC) is extremely rare, and
关键词: Retroperitoneum |  squamous cell carcinoma |  human papillomavirus |  next-generation sequencing |  PIK3CA

3. Molecular substratification of endometrial carcinomas with no special molecular profile (NSMP) by using a limited NGS custom panel may facilitate effective patient selection for the PIK3CA -targeted therapy NSTL国家科技图书文献中心

Ondic, Ondrej |  Michalova, Kvetoslav...... -  《Virchows Archiv》 - 2025,486(4) - 827~832 - 共6页

摘要: molecular category. The PIK3CA is currently the only |  presence of the PIK3CA pathogenic mutation. Those cases | , NRAS, PIK3CA, PMS2, POLD1, POLE, PTEN,and TP53 genes | . We identified 24 PIK3CA mutated cases in the group | . The NSMP EC category contains 30% of the PIK3CA
关键词: PIK3CA |  Kinase |  Endometrial carcinoma |  Copy number low |  Theranostics |  Targeted therapy

4. Pre-operative dual-time-point [ 18 F]FET PET differentiates CDKN2A/B loss and PIK3CA mutation status in adult-type diffuse glioma: a single-center prospective study NSTL国家科技图书文献中心

Lee, Dong Yun |  Oh, Jungsu S.... -  《European Journal of Nuclear Medicine and Molecular Imaging》 - 2025,52(2) - 669~682 - 共14页

摘要: of pathology. Furthermore, patients with PIK3CA |  PIK3CA mutation, even after adjustment for age, MRI |  loss and PIK3CA mutation status could be | Purpose While [F-18]FET PET plays a |  complementary role in glioma imaging, it needs to be more
关键词: Dual-time-point [F-18]FET PET |  Adult-type diffuse glioma |  NGS data |  CDKN2A/B loss |  PIK3CA mutation

5. Predicting and Confirming Bioequivalence of Alpelisib Oral Granules and Tablets for Patients With PIK3CA -Related Disorders NSTL国家科技图书文献中心

Getz, Elise Burmeist... |  Niglis, Severine... -  《AAPS PharmSciTech》 - 2025,26(5) - Article: 121~Article: 121 - 共15页

摘要:-function mutation in the PIK3CA oncogene. Alpelisib has | -coated tablets to treat severe PIK3CA-Related | Alpelisib, an oral alpha-specific |  phosphoinositide 3-kinase (PI3K) inhibitor, has been shown to be |  safe and effective for some patients with gain-of
关键词: Alpelisib |  Bioequivalence |  Granules |  Physiologically-based biopharmaceutical modeling |  Pediatric

6. Genomic and transcriptomic landscape of HER2-low breast cancer NSTL国家科技图书文献中心

Bansal, Rani |  Adeyelu, Tolulope... -  《Breast cancer research and treatment.》 - 2025,209(2) - 323~330 - 共8页

摘要: rate of PIK3CA was observed in HRneg/HER2L tumors |  HR+/HER2L pts had activating PIK3CA mutations | . Among HR+PIK3CA mutated tumors, HER2L pts treated with | Background Novel agents have expanded the |  traditional HER2 definitions to include HER2-Low (HER2L
关键词: Breast cancer |  HER2 low |  Hormone receptor positive |  PIK3CA |  TP53 |  Triple negative breast cancer |  Genomic profile

7. An update on promising and emerging protein kinase B/AKT inhibitors for breast cancer NSTL国家科技图书文献中心

Asnaghi, Riccardo |  Antonarelli, Gabriel...... -  《Expert opinion on pharmacotherapy》 - 2025,26(3) - 235~247 - 共13页

摘要: remain, especially with PIK3CA and AKT inhibitors | Introduction: The PI3K pathway is crucial in |  breast cancer (BC), influencing cell survival, growth | , and metabolism, with AKT playing a central role in |  treatment resistance. This pathway's involvement in breast
关键词: AKT |  PIK3CA |  PI3K-pathway |  breast cancer |  allosteric inhibitor

8. Genotyping as Part of Routine Clinical Care-The Outcomes for a Large Paediatric Vascular Anomaly Cohort NSTL国家科技图书文献中心

O'Sullivan, Sinead |  Shilova, Maria... -  《American journal of medical genetics,Part A》 - 2025,197A(5) - e63976~e63976 - 共11页

摘要:We describe the phenotypic and genotypic |  spectrum of patients with vascular anomaly (VA) in a |  paediatric multi-disciplinary VA clinic. We measured the |  clinical utility of genotyping by comparing pre and |  posttest diagnosis and management. A 46-month
关键词: molecularly targeted therapy |  PIK3CA related overgrowth spectrum |  vascular anomaly |  vascular malformation

9. Atezolizumab and Bevacizumab prior to liver transplantation in hepatic angiosarcoma mimicking hepatocellular carcinoma NSTL国家科技图书文献中心

Qiu, Siqi |  Zong, Zhipeng... -  《Immunotherapy》 - 2025,17(2/3) - 175~178 - 共4页

摘要:Hepatic angiosarcoma is a rare yet |  aggressive malignancy, which is prone to misdiagnosis due |  to the lack of specific molecular and radiological |  characteristics. The treatment regimens remain controversial and |  disappointing. Randomized clinical trials are limited due to
关键词: Hepatic angiosarcoma |  immune checkpoint inhibitors |  anti-angiogenic therapy |  PIK3CA mutation |  tumor mutation burden

10. Except for Robust Outliers, Rapamycin Increases Lesion Burden in a Murine Model of Cerebral Cavernous Malformations NSTL国家科技图书文献中心

Alcazar-Felix, Rober... |  Shenkar, Robert... -  《Translational stroke research》 - 2025,16(3) - 859~867 - 共9页

摘要:, with many cases also harboring somatic PIK3CA gain of |  gene loss and Pik3ca GOF, but it remains unknown if |  Pik3ca GOF. We investigated the effect of rapamycin at |  Pik3ca GOF. Lesion burden, attrition, and acute and |  development may not be driven by PIK3CA GOF. Further studies
关键词: Cerebral cavernous malformation |  CCM |  Mouse |  Rapamycin |  ROCK inhibitor |  Stroke
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