نتایج جستجو برای: ژن pik3ca

تعداد نتایج: 18195  

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2014
Julia A Beaver Danijela Jelovac Sasidharan Balukrishna Rory Cochran Sarah Croessmann Daniel J Zabransky Hong Yuen Wong Patricia Valda Toro Justin Cidado Brian G Blair David Chu Timothy Burns Michaela J Higgins Vered Stearns Lisa Jacobs Mehran Habibi Julie Lange Paula J Hurley Josh Lauring Dustin VanDenBerg Jill Kessler Stacie Jeter Michael L Samuels Dianna Maar Leslie Cope Ashley Cimino-Mathews Pedram Argani Antonio C Wolff Ben H Park

PURPOSE Detecting circulating plasma tumor DNA (ptDNA) in patients with early-stage cancer has the potential to change how oncologists recommend systemic therapies for solid tumors after surgery. Droplet digital polymerase chain reaction (ddPCR) is a novel sensitive and specific platform for mutation detection. EXPERIMENTAL DESIGN In this prospective study, primary breast tumors and matched p...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2009
H B Salvesen S L Carter M Mannelqvist A Dutt G Getz I M Stefansson M B Raeder M L Sos I B Engelsen J Trovik E Wik H Greulich T H Bø I Jonassen R K Thomas T Zander L A Garraway A M Oyan W R Sellers K H Kalland M Meyerson L A Akslen R Beroukhim

Although 75% of endometrial cancers are treated at an early stage, 15% to 20% of these recur. We performed an integrated analysis of genome-wide expression and copy-number data for primary endometrial carcinomas with extensive clinical and histopathological data to detect features predictive of recurrent disease. Unsupervised analysis of the expression data distinguished 2 major clusters with s...

Journal: :Cancer research 2005
Milo Frattini Stefano Signoroni Silvana Pilotti Lucio Bertario Silvia Benvenuti Carlo Zanon Alberto Bardelli Marco A Pierotti

Phosphatidylinositol-3 phosphate kinase (PI3K) and phosphatase protein homologue to tensin (PTEN) are involved in cell signaling by catalyzing opposite reactions in the balance of phosphatidylinositol-3,4,5,-trisphosphate and are deregulated in many tumors. Recently, Saal et al. (1) reported that these two proteins are altered in a consistent fraction of breast cancers and, more importantly, th...

2013
Filip Janku

Increased signaling through the phosphoinositide 3-kinase (PI3K)/AKT/ mammalian target of rapamycin (mTOR) pathway occurs in diverse malignancies. In cancer, the PI3K/AKT/mTOR pathway can be activated by mutations in several oncogenes such as PIK3CA, PIK3R1, AKT, TSC1/2, LKB1 and PTEN (Fig. 1). Most activating mutations occur in the helical or kinase domain of the PIK3CA gene. Preclinical model...

2016
Ghayda Mirzaa Andrew E. Timms Valerio Conti Evan August Boyle Katta M. Girisha Beth Martin Martin Kircher Carissa Olds Jane Juusola Sarah Collins Kaylee Park Melissa Carter Ian Glass Inge Krägeloh-Mann David Chitayat Aditi Shah Parikh Rachael Bradshaw Erin Torti Stephen Braddock Leah Burke Sondhya Ghedia Mark Stephan Fiona Stewart Chitra Prasad Melanie Napier Sulagna Saitta Rachel Straussberg Michael Gabbett Bridget C. O’Connor Catherine E. Keegan Lim Jiin Yin Angeline Hwei Meeng Lai Nicole Martin Margaret McKinnon Marie-Claude Addor Luigi Boccuto Charles E. Schwartz Agustina Lanoel Robert L. Conway Koenraad Devriendt Katrina Tatton-Brown Mary Ella Pierpont Michael Painter Lisa Worgan James Reggin Raoul Hennekam Karen Tsuchiya Colin C. Pritchard Mariana Aracena Karen W. Gripp Maria Cordisco Hilde Van Esch Livia Garavelli Cynthia Curry Anne Goriely Hulya Kayserilli Jay Shendure John Graham Renzo Guerrini William B. Dobyns

Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated with the widest spectrum of phenotypes associated with overgrowth and vascular malformations. We performed targeted NGS using 2 independent deep-coverage methods that utilize molecular inversion probes and amplicon sequen...

2015
Wina Verlaat Peter JF Snijders Marinda IH van Moorsel Maaike Bleeker Lawrence Rozendaal Daoud Sie Bauke Ylstra Chris JLM Meijer Renske DM Steenbergen Daniëlle AM Heideman

Somatic mutations in cervical intraepithelial neoplasia (CIN) are largely unknown. Here, we profiled 35 cervical carcinomas and 23 CIN grade 2/3 (CIN2/3) for mutations in 48 cancer-related genes using a Next Generation Sequencing-based cancer panel. PIK3CA exon 9 was the most frequently mutated locus in cervical carcinoma and the only mutated locus detected in CIN2/3. These PIK3CA exon 9 mutati...

2014
Zizhen Ming Dongxian Jiang Qin Hu Xiaojing Li Jie Huang Yifan Xu Yalan Liu Chen Xu Xiuguo Hua Yingyong Hou

BACKGROUND The PIK3CA gene mutation was found to associate with prognosis and might affect molecular targeted therapy in esophageal carcinoma (EC). The aim of this study is to compare different methods for analyzing the PIK3CA gene mutation in EC. METHODS Genomic DNA was extracted from 106 surgically resected EC patient tissues. The PIK3CA mutation status (exons 9 and 20) were screened by mut...

Journal: :Molecular and cellular biology 2007
Jung-Sik Kim Carolyn Lee Challice L Bonifant Habtom Ressom Todd Waldman

In an effort to identify genes whose expression is regulated by activated phosphatidylinositol 3-kinase (PI3K) signaling, we performed microarray analysis and subsequent quantitative reverse transcription-PCR on an isogenic set of PTEN gene-targeted human cancer cells. Numerous p53 effectors were upregulated following PTEN deletion, including p21, GDF15, PIG3, NOXA, and PLK2. Stable depletion o...

2014
Yi-Rong Liu Yi-Zhou Jiang Wen-Jia Zuo Ke-Da Yu Zhi-Ming Shao

BACKGROUND Mutations of the p110α catalytic subunit of phosphatidylinositol 3-kinase (PIK3CA) are among the most common genetic aberrations in human breast cancer. At present, controversy exists concerning the prognostic value of the mutations. METHODS We performed a systematic review and meta-analysis to clarify the association between PIK3CA mutations and survival outcomes. A comprehensive,...

Journal: :Rossijskij žurnal detskoj gematologii i onkologii 2022

PIK3CA-Related Overgrowth Spectrum (PROS) refers to rare syndromes, which are characterized by malformations and excessive tissue growth caused somatic mutations in the PIK3CA gene occurring during embryogenesis. This article discusses pathogenesis, clinical picture, diagnosis treatment of these syndromes. Some illustrations used this copied from other resources, rights authors respected not vi...

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