Mutational Landscape of Bladder Cancer in Mexican Patients:
Hispanics
Mexican population
bladder cancer
cancer genomics
muscle-invasive bladder cancer
mutations
non-muscle invasive bladder cancer
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
06 Jan 2023
06 Jan 2023
Historique:
received:
23
10
2022
revised:
27
11
2022
accepted:
03
12
2022
entrez:
21
1
2023
pubmed:
22
1
2023
medline:
25
1
2023
Statut:
epublish
Résumé
Bladder cancer (BC) is the most common neoplasm of the urinary tract, which originates in the epithelium that covers the inner surface of the bladder. The molecular BC profile has led to the development of different classifications of non-muscle invasive bladder cancer (NMIBC) and muscle-invasive bladder cancer (MIBC). However, the genomic BC landscape profile of the Mexican population, including NMIBC and MIBC, is unknown. In this study, we aimed to identify somatic single nucleotide variants (SNVs) and copy number variations (CNVs) in Mexican patients with BC and their associations with clinical and pathological characteristics. We retrospectively evaluated 37 patients treated between 2012 and 2021 at the National Cancer Institute-Mexico (INCan). DNA samples were obtained from paraffin-embedded tumor tissues and exome sequenced. Strelka2 and Lancet packages were used to identify SNVs and insertions or deletions. FACETS was used to determine CNVs. We found a high frequency of mutations in
Identifiants
pubmed: 36674608
pii: ijms24021092
doi: 10.3390/ijms24021092
pmc: PMC9866210
pii:
doi:
Substances chimiques
KMT2D protein, human
0
DNA-Binding Proteins
0
Neoplasm Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Consejo Nacional de Ciencia y Tecnología
ID : FOSISS-2017-29041
Organisme : Consejo Nacional de Ciencia y Tecnología
ID : FOSISS-2017-289503
Organisme : NIEHS NIH HHS
ID : R21ES027087
Pays : United States
Références
Nucleic Acids Res. 2019 Jan 8;47(D1):D941-D947
pubmed: 30371878
Bioinformatics. 2010 Mar 1;26(5):589-95
pubmed: 20080505
Medicina (Kaunas). 2021 Jul 24;57(8):
pubmed: 34440955
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Nature. 2015 Oct 1;526(7571):68-74
pubmed: 26432245
Bioinformatics. 2012 Jul 15;28(14):1811-7
pubmed: 22581179
Cancer Cell. 2020 Apr 13;37(4):599-617.e7
pubmed: 32243837
Cancer Cell. 2016 Jul 11;30(1):27-42
pubmed: 27321955
Nat Protoc. 2016 Jan;11(1):1-9
pubmed: 26633127
Urol Oncol. 2022 Aug;40(8):383.e1-383.e10
pubmed: 35662501
Nucleic Acids Res. 2016 Sep 19;44(16):e131
pubmed: 27270079
FEBS Open Bio. 2019 Feb 21;9(4):693-706
pubmed: 30984543
Urology. 2005 Dec;66(6 Suppl 1):4-34
pubmed: 16399414
BMC Urol. 2011 Aug 05;11:17
pubmed: 21816111
Urologia. 2020 May;87(2):49-56
pubmed: 31942831
Genome Biol. 2016 Jun 06;17(1):122
pubmed: 27268795
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Nat Protoc. 2013 Nov;8(11):2240-55
pubmed: 24136348
CA Cancer J Clin. 2021 May;71(3):209-249
pubmed: 33538338
Eur Urol. 2020 Apr;77(4):420-433
pubmed: 31563503
Clin Cancer Res. 2012 Jun 15;18(12):3377-86
pubmed: 22553347
Virchows Arch. 2016 Sep;469(3):255-65
pubmed: 27298226
Curr Oncol. 2022 Feb 24;29(3):1390-1407
pubmed: 35323317
Front Oncol. 2022 Mar 07;12:816706
pubmed: 35321431
Hum Genomics. 2014 Jun 30;8:11
pubmed: 24980617
Nature. 2020 Feb;578(7793):94-101
pubmed: 32025018
Indian J Pathol Microbiol. 2018 Jul-Sep;61(3):350-355
pubmed: 30004053
Nature. 2014 Mar 20;507(7492):315-22
pubmed: 24476821
JAMA. 2011 Aug 17;306(7):737-45
pubmed: 21846855
Curr Opin Genet Dev. 2014 Feb;24:52-60
pubmed: 24657537
Oncotarget. 2021 Jun 22;12(13):1296-1308
pubmed: 34194626
Commun Biol. 2018 Mar 22;1:20
pubmed: 30271907
Cell. 2018 Aug 9;174(4):1033
pubmed: 30096301
Genome Med. 2015 Apr 28;7(1):38
pubmed: 26015808
Urol Oncol. 2012 Jan-Feb;30(1):49-54
pubmed: 20207557
Nucleic Acids Res. 2014 Jan;42(Database issue):D986-92
pubmed: 24174537
Biomed Pharmacother. 2019 Jul;115:108924
pubmed: 31100540
Nat Genet. 2014 Jun;46(6):573-82
pubmed: 24816253
Genome Res. 2018 Apr;28(4):581-591
pubmed: 29535149
Nucleic Acids Res. 2014 Jan;42(Database issue):D980-5
pubmed: 24234437
Gastroenterol Res Pract. 2018 Jun 05;2018:6986870
pubmed: 29967641
Genome Biol. 2016 Feb 22;17:31
pubmed: 26899170
Bioinformatics. 2010 Mar 15;26(6):841-2
pubmed: 20110278
J Pers Med. 2021 Nov 04;11(11):
pubmed: 34834500
Curr Protoc Hum Genet. 2013 Jan;Chapter 7:Unit7.20
pubmed: 23315928