Results 41 to 50 of about 114,676 (292)

Feasibility of a ctDNA multigenic panel for non‐small‐cell lung cancer early detection and disease surveillance

Molecular Oncology, EarlyView.
Plasma‐based detection of actionable mutations is a promising approach in lung cancer management. Analysis of ctDNA with a multigene NGS panel identified TP53, KRAS, and EGFR as the most frequently altered, with TP53 and KRAS in treatment‐naïve patients and TP53 and EGFR in previously treated patients.
Giovanna Maria Stanfoca Casagrande, Marcela de Oliveira Silva, Mariana Bisarro dos Reis, Rodrigo de Oliveira Cavagna, Luciane Sussuchi, Icaro Alves Pinto, Natalia Zampieri Pontes, Rodrigo Sampaio Chiarantano, Flavio Augusto Ferreira da Silva, Pedro de Marchi, Letícia Ferro Leal, Rui M. Reis   +11 more
wiley   +1 more source

Novel DNA variants and mutation frequencies of hMLH1 and hMSH2 genes in colorectal cancer in the Northeast China population. [PDF]

PLoS ONE, 2013
Research on hMLH1 and hMSH2 mutations tend to focus on Lynch syndrome (LS) and LS-like colorectal cancer (CRC). No studies to date have assessed the role of hMLH1 and hMSH2 genes in mass sporadic CRC (without preselection by MSI or early age of onset ...
Fulan Hu, Dandan Li, Yibaina Wang, Xiaoping Yao, Wencui Zhang, Jing Liang, Chunqing Lin, Jiaojiao Ren, Lin Zhu, Zhiwei Wu, Shuying Li, Ye Li, Xiaojuan Zhao, Binbin Cui, Xinshu Dong, Suli Tian, Yashuang Zhao   +16 more
doaj   +1 more source

Tumor and germline testing with next generation sequencing in epithelial ovarian cancer: a prospective paired comparison using an 18‐gene panel

Molecular Oncology, EarlyView.
Genetic testing in epithelial ovarian cancer includes both germline and tumor‐testing. This approach often duplicates resources. The current prospective study assessed the feasibility of tumor‐first multigene testing by comparing tumor tissue with germline testing of peripheral blood using an 18‐gene NGS panel in 106 patients.
Elisabeth Spenard, Cristina Mitric, Melanie Care, Tracy L. Stockley, Raymond H. Kim, Jeanna McCuaig, Blaise Clarke, Laura Ranich, Clare Sheen, Sarah E. Ferguson, Liat Hogen, Taymaa May, Marcus Q. Bernardini   +12 more
wiley   +1 more source

The First Case Report of a Patient With Oligodendroglioma Harboring CHEK2 Germline Mutation

Frontiers in Genetics, 2022
Introduction:CHEK2 (Checkpoint kinase 2) germline mutations were associated with an elevated risk of breast cancer, colorectal cancer, and other familiar cancers. Loss-of-function variants in CHEK2 are known to be pathogenic.
Xueen Li, Hao Xue, Ningning Luo, Tiantian Han, Mengmeng Li, Deze Jia   +5 more
doaj   +1 more source

Effect of chemotherapy on passenger mutations in metastatic colorectal cancer

Molecular Oncology, EarlyView.
Changes in passenger mutation load and predicted immunotherapy response after chemotherapy treatment. Tumor cells rich with passenger mutations have increased sensitivity to chemotherapy. Correlation of passenger mutations with neoantigen load suggests highly mutated clones promote a more effective response to immunotherapy, and therefore, first‐line ...
Marium T. Siddiqui, Matthew A. Cottam, Muhammad Bilal Mirza, Keeli B. Lewis, Kristen K. Ciombor, Mary Kay Washington, Kamran Idrees   +6 more
wiley   +1 more source

Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B

Case Reports in Endocrinology, 2015
Individuals presenting with primary hyperparathyroidism (PHPT) at a young age commonly have an underlying germline gene mutation in one of the following genes: MEN1, CASR, or CDC73.
Marianne S. Elston, Goswin Y. Meyer-Rochow, Michael Dray, Michael Swarbrick, John V. Conaglen   +4 more
doaj   +1 more source

A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report

BMC Medical Genetics, 2018
Background Bilateral macronodular adrenal hyperplasia (BMAH) is a rare cause of Cushing’s syndrome (CS). BMAH is predominantly believed to be caused by two mutations, a germline and somatic one, respectively, as described in the two-hit hypothesis.
Qiuli Liu, Dali Tong, Jing Xu, Xingxia Yang, Yuting Yi, Dianzheng Zhang, Luofu Wang, Jun Zhang, Yao Zhang, Yaoming Li, Lianpeng Chang, Rongrong Chen, Yanfang Guan, Xin Yi, Jun Jiang   +14 more
doaj   +1 more source

Choroid Plexus Carcinomas With TP53 Germline Mutations: Management and Outcome

Frontiers in Oncology, 2021
BackgroundChoroid plexus carcinomas (CPCs) are rare pediatric tumors commonly associated with Li-Fraumeni syndrome (LFS), which involves a germline mutation of the tumor suppressor gene TP53.Materials and MethodsWe retrospectively analyzed the ...
Yanong Li, Hailong Liu, Tandy Li, Jin Feng, Yanjiao He, Li Chen, Chunde Li, Xiaoguang Qiu   +7 more
doaj   +1 more source

Cost-effectiveness of fuzuloparib compared to routine surveillance, niraparib and olaparib for maintenance treatment of patients with germline BRCA1/2 mutation and platinum-sensitive recurrent ovarian carcinoma in China [PDF]

, 2023
Jing Nie, Huina Wu, Lei Sun, Yanjiao Ding, Yepeng Luan, Jiyong Wu   +5 more
openalex   +1 more source

Cis‐regulatory and long noncoding RNA alterations in breast cancer – current insights, biomarker utility, and the critical need for functional validation

Molecular Oncology, EarlyView.
The noncoding region of the genome plays a key role in regulating gene expression, and mutations within these regions are capable of altering it. Researchers have identified multiple functional noncoding mutations associated with increased cancer risk in the genome of breast cancer patients.
Arnau Cuy Saqués, Aracele Martinez‐Mendez, John Crown, Alex Eustace   +3 more
wiley   +1 more source