Results 51 to 60 of about 240,433 (353)

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

TP53 rs1042522 polymorphism and early-onset breast cancer

Journal of Research in Medical Sciences, 2020
Background: Breast cancer is the leading cause of cancer deaths among women. Early-onset breast cancer is well recognized as it clinically differs from old-age diagnosed breast neoplasms.
Irmak Icen-Taskin, Sevgi Irtegun-Kandemir, Omer Munzuroglu   +2 more
doaj   +1 more source

The emerging roles of ribosome biogenesis in craniofacial development. [PDF]

, 2014
Neural crest cells (NCCs) are a transient, migratory cell population, which originates during neurulation at the neural folds and contributes to the majority of tissues, including the mesenchymal structures of the craniofacial skeleton.
Ross, Adam P, Zarbalis, Konstantinos S
core   +2 more sources

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

MDM1 overexpression promotes p53 expression and cell apoptosis to enhance therapeutic sensitivity to chemoradiotherapy in patients with colorectal cancer

Cancer Biology & Medicine
Objective: Identifying biomarkers that predict the efficacy and prognosis of chemoradiotherapy is important for individualized clinical treatment. We previously reported that high murine double minute 1 (MDM1) expression in patients with rectal cancer is
Ningxin Ren, Hongxia Chen, Ying Huang, Jing Jin, Shaosen Zhang, Ruoqing Yan, Mengjie Li, Linlin Zheng, Shuangmei Zou, Yexiong Li, Wen Tan, Dongxin Lin   +11 more
doaj   +1 more source

Is now the time for molecular driven therapy for diffuse large B-cell lymphoma? [PDF]

, 2017
INTRODUCTION: Recent genetic and molecular discoveries regarding alterations in diffuse large B-cell lymphoma (DLBCL) deeply changed the approach to this lymphoproliferative disorder.
Ansuinelli, Michela, DE ANGELIS, Federico, DI ROCCO, Alice, Foa, Roberto, Martelli, Maurizio   +4 more
core   +1 more source

Two Faces of NOTCH1 in Childhood Lymphoblastic T‐Cell Neoplasia: Prognostic Divergence of Mutational and Structural Aberrations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT In pediatric patients, T‐cell lymphoblastic lymphoma (T‐LBL) survival exceeds 80%. Relapse remains associated with limited curative options. Frontline treatment is largely extrapolated from T‐cell acute lymphoblastic leukemia (T‐ALL) treatment, reflecting the ongoing debate, whether both entities represent distinct diseases or variants within ...
Marie C. Heider, Amelie Alfert, Marc Hotfilder, Birgit Burkardt, Marcel te Vrugt   +4 more
wiley   +1 more source

Pathological Characteristics of Mutations in PIK3CA and TP53 Genes in Breast Cancer Cases from Qinghai Area

Zhongliu Fangzhi Yanjiu
ObjectiveTo analyze ethnic differences in mutations of the PIK3CA and TP53 genes among breast cancer patients from the Han, Tibetan, and Hui ethnic groups in Qinghai, China, and their associations with clinicopathological characteristics.
Xueyue LI, Jing HU, Hongyuan LIAO, Haiqin ZHANG, Xiude LI, Hao LEI, Xiaofeng ZHOU   +6 more
doaj   +1 more source

Cellular Mechanism of Gene Mutations and Potential Therapeutic Targets in Ovarian Cancer

Cancer Management and Research, 2021
Tao Guo,1 Xue Dong,2 Shanli Xie,3 Ling Zhang,4 Peibin Zeng,5 Lin Zhang6 1Department of Gynecology and Obstetrics, West China Second Hospital, Sichuan University, Chengdu, Sichuan, 610041, People’s Republic of China; 2Department of Gynecology, Cheng
Guo T, Dong X, Xie S, Zhang L, Zeng P, Zhang L   +5 more
doaj  

Цитогенетические повреждения и эпигенетический статус промоторов генов TP53, BRCA1 и ERCC2 у работников угольных предприятий [PDF]

Письма в Вавиловский журнал генетики и селекции
Человек подвергается воздействию различных химических соединений на протяжении жизни, однако профессиональная специализация обуславливает наиболее опасное воздействие на организм. Важной проблемой является понимание влияния промышленной среды на геномную
Марущак А.В, Астафьева М.В, Глушков А.Н., Минина В.И.   +3 more
doaj   +1 more source