Pubfacts - Scientific Publication Data
  • Categories
  • |
  • Journals
  • |
  • Authors
  • Login
  • Categories
  • Journals

Search Our Scientific Publications & Authors

Publications
  • Publications
  • Authors
find publications by category +
Translate page:

A genomic mutation spectrum of collecting duct carcinoma in the Chinese population.

Authors:
Huaru Zhang Xiaojun Lu Gang Huang Meimian Hua Wenhui Zhang Tao Wang Liqun Huang Ziwei Wang Qing Chen Jing Li Qing Yang Guosheng Yang

BMC Med Genomics 2022 01 3;15(1). Epub 2022 Jan 3.

The Second School of Clinical Medicine, Southern Medical University, Guangzhou, 510515, China.

Background: Renal collecting duct carcinoma (CDC) is a rare and lethal subtype of renal cell carcinoma (RCC). The genomic profile of the Chinese population with CDC remains unclear. In addition, clinical treatments are contradictory. In this study, we aimed to identify the genomic mutation spectrum of CDC in the Chinese population.

Methods: Whole-exome sequencing was performed using the Illumina Novaseq™ 6000 platform. MuTect2 detects single-nucleotide variants (SNVs) and small scale insertions/deletions (INDELs). The identified mutations were annotated with ANNOVAR and validated by Sanger sequencing. Control-FREEC was used to detect copy number variation (CNV), and GISTIC was applied to detect frequently mutated altered regions. These data were compared with associated The Cancer Genome Atlas cohorts.

Results: Ten normal-matched CDC patients were included. The mean tumour mutation burden was 1.37 Mut/Mb. Six new recurrent somatic mutated genes were identified, including RBM14, MTUS1, GAK, DST, RNF213 and XIRP2 (20% and 2 of 10, respectively), and validated by Sanger sequencing. In terms of common mutated genes, SETD2 was altered in both CDC and other RCC subtypes but not in bladder urothelial carcinoma (BLCA); CDKN2A was a driver gene in both CDC (SNV: 10%, 1 of 10) and BLCA but not in other RCC subtypes. Next, 29 amplifications and 6 deletions of recurrent focal somatic CNVs were identified by GISTIC2.0, which displayed differences from kidney renal clear cell carcinoma (KIRC), kidney renal papillary cell carcinoma (KIRP) and BLCA cohorts. Of note, CDKN2A (CNV alteration: 30%, 3 of 10) and CDKN2A-AS1 were the only overlapping genes of these four cohorts. Importantly, the CDKN2A mutation in our cohort differed from previous studies in urinary carcinomas. Moreover, CDKN2A-altered cases had significantly worse overall survival than wild-type cases in both KIRC and KIRP cohorts. In addition, the most frequently altered genomic pathway of our CDC cohort was the CDKN2A-mediated p53/RB1 pathway.

Conclusions: Our study offers the first genomic spectrum of the Chinese population with CDC, which differs from that of the Western population. The altered CDKN2A-mediated p53/RB1 pathway might provide new insight into potential therapeutic targets for CDC patients.

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12920-021-01143-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8722201PMC
January 2022

Publication Analysis

Top Keywords

chinese population
12
cell carcinoma
12
cdc
9
mutated genes
8
cdkn2a-mediated p53/rb1
8
mutation spectrum
8
kidney renal
8
rcc subtypes
8
genomic mutation
8
collecting duct
8
duct carcinoma
8
cdc patients
8
sanger sequencing
8
validated sanger
8
population cdc
8
carcinoma
6
genomic
5
background renal
4
snv 10%
4
altered cdc
4

Keyword Occurance

Similar Publications

Lipoprotein(a) and ethnicities.

Authors:
Anurag Mehta Vardhmaan Jain Anum Saeed Joseph J Saseen Martha Gulati Christie M Ballantyne Salim S Virani

Atherosclerosis 2022 May;349:42-52

Section of Cardiovascular Research, Department of Medicine, Baylor College of Medicine, Houston, TX, USA; Health Policy, Quality & Informatics Program, Michael E. DeBakey Veterans Affairs Medical Center Health Services Research and Development Center for Innovations, USA. Electronic address:

The initial studies focusing on lipoprotein(a) [Lp(a)] and its role in atherosclerotic cardiovascular disease were conducted exclusively in Whites. Subsequently, multiple large-scale, independent investigations have established clear race/ethnic differences in plasma Lp(a) concentration and population distribution over the last four decades. Blacks have the highest Lp(a) level of all race/ethnic groups studied followed by South Asians, Whites, Hispanics and East Asians. Read More

View Article and Full-Text PDF
May 2022
Similar Publications

Efficacy of photodynamic therapy for warts induced by human papilloma virus infection: A systematic review and meta-analysis.

Authors:
Sihao Shen Jiangfeng Feng Xiuzu Song Wenzhong Xiang

Photodiagnosis Photodyn Ther 2022 May 20:102913. Epub 2022 May 20.

Department of Dermatology, Hangzhou Third People's Hospital; Hangzhou Third Hospital Affiliated to Zhejiang Chinese Medical University; Affiliated Hangzhou Dermatology Hospital, Zhejiang University School of Medicine; West Lake Road 38, Hangzhou, 310009, People's Republic of China. Electronic address:

Background: The incidence of warts caused by human papilloma virus (HPV) infection is very high in the population. Photodynamic therapy (PDT), as an emerging method for wart treatment, has been demonstrated to be effective and safe by an increasing number of studies. This meta-analysis of previous literature aimed to investigate the potential of PDT as a first-line treatment for warts. Read More

View Article and Full-Text PDF
May 2022
Similar Publications

Spatiotemporal neural network for estimating surface NO concentrations over north China and their human health impact.

Authors:
Chengxin Zhang Cheng Liu Bo Li Fei Zhao Chunhui Zhao

Environ Pollut 2022 May 20:119510. Epub 2022 May 20.

Key Laboratory of Environmental Optics and Technology, Anhui Institute of Optics and Fine Mechanics, Chinese Academy of Sciences, Hefei, 230031, China.

Atmospheric nitrogen dioxide (NO) is an important reactive gas pollutant harmful to human health. The spatiotemporal coverage provided by traditional NO monitoring methods is insufficient, especially in the suburban and rural areas of north China, which have a high population density and experience severe air pollution. In this study, we implemented a spatiotemporal neural network (STNN) model to estimate surface NO from multiple sources of information, which included satellite and in situ measurements as well as meteorological and geographical data. Read More

View Article and Full-Text PDF
May 2022
Similar Publications

Outcomes following diabetes admission in patients who had influenza vaccination: a population-based cohort study.

Authors:
Chao-Shun Lin Chuen-Chau Chang Chun-Chieh Yeh Yi-Cheng Chang Ta-Liang Chen Chien-Chang Liao

Diabetes Res Clin Pract 2022 May 20:109930. Epub 2022 May 20.

Department of Anesthesiology, Taipei Medical University Hospital, Taipei, Taiwan; Anesthesiology and Health Policy Research Center, Taipei Medical University Hospital, Taipei, Taiwan; Department of Anesthesiology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan; Research Center of Big Data and Meta-Analysis, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan. Electronic address:

Objective: The beneficial effect of influenza vaccination (IV) in patients with diabetes was not completely understood.

Methods: Using the research data of health insurance, we performed a cohort study of patients aged ≥ 20 years who were admitted to inpatient care due to diabetes in 2008-2013 in Taiwan. We performed the propensity score matching and the outcomes of complications and mortality following the diabetes admission was compared between patients with and without IV. Read More

View Article and Full-Text PDF
May 2022
Similar Publications

Organochlorine pesticide exposures, metabolic enzyme genetic polymorphisms and semen quality parameters among men attending an infertility clinic.

Authors:
Yu Miao Jia-Yue Zeng Mao Rong Min Li Li Zhang Chong Liu Kun-Ming Tian Ke-Di Yang Chang-Jiang Liu Qiang Zeng

Chemosphere 2022 May 20:135010. Epub 2022 May 20.

Department of Occupational and Environmental Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, PR China; Key Laboratory of Environment and Health, Ministry of Education & Ministry of Environmental Protection, State Key Laboratory of Environmental Health (incubating), School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, PR China. Electronic address:

The associations of organochlorine pesticides (OCPs) with semen quality from human studies are conflicting, and also it is largely unknown whether the associations are modified by genetic polymorphisms. We aimed to evaluate the associations between serum concentrations of 18 OCPs and semen quality among 387 Chinese men, and further to examine the modifying effects by genetic polymorphisms in cytochrome P450 (CYP2E1) and glutathione S-transferase (GSTT1). Multivariable linear regressions were used to evaluate the relationships between serum OCP concentrations and semen quality, and the role of CYP2E1 and GSTT1 polymorphisms in modifying the associations were assessed. Read More

View Article and Full-Text PDF
May 2022
Similar Publications
}
© 2022 PubFacts.
  • About PubFacts
  • Privacy Policy
  • Sitemap