Somatic mutations of esophageal adenocarcinoma: a comparison between Black and White patients.

Autor: Lim H; Section of Epidemiology and Population Science, Department of Medicine, Baylor College of Medicine, Houston, TX, USA., Gingras MC; Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Zhao J; Section of Epidemiology and Population Science, Department of Medicine, Baylor College of Medicine, Houston, TX, USA., Byun J; Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA., Castro PD; Department of Pathology, Baylor College of Medicine, Houston, TX, USA., Tsavachidis S; Section of Epidemiology and Population Science, Department of Medicine, Baylor College of Medicine, Houston, TX, USA., Hu J; Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Doddapaneni H; Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Han Y; Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Muzny DM; Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Gibbs RA; Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Amos CI; Section of Epidemiology and Population Science, Department of Medicine, Baylor College of Medicine, Houston, TX, USA. chrisa@bcm.edu.; Dan L Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, TX, USA. chrisa@bcm.edu.; Institute for Clinical and Translational Research, Baylor College of Medicine, One Baylor Plaza, MS: BCM451, Suite 100D, Houston, TX, 77030, USA. chrisa@bcm.edu., Thrift AP; Section of Epidemiology and Population Science, Department of Medicine, Baylor College of Medicine, Houston, TX, USA. aaron.thrift@bcm.edu.; Dan L Duncan Comprehensive Cancer Center, Baylor College of Medicine, One Baylor Plaza, MS: BCM307, Room 621D, Houston, TX, 77030, USA. aaron.thrift@bcm.edu.
Jazyk: angličtina
Zdroj: Scientific reports [Sci Rep] 2024 Apr 18; Vol. 14 (1), pp. 8988. Date of Electronic Publication: 2024 Apr 18.
DOI: 10.1038/s41598-024-59257-3
Abstrakt: Esophageal adenocarcinoma is the most common histological subtype of esophageal cancer in Western countries and shows poor prognosis with rapid growth. EAC is characterized by a strong male predominance and racial disparity. EAC is up to fivefold more common among Whites than Blacks, yet Black patients with EAC have poorer survival rates. The racial disparity remains largely unknown, and there is limited knowledge of mutations in EAC regarding racial disparities. We used whole-exome sequencing to show somatic mutation profiles derived from tumor samples from 18 EAC male patients. We identified three molecular subgroups based on the pre-defined esophageal cancer-specific mutational signatures. Group 1 is associated with age and NTHL1 deficiency-related signatures. Group 2 occurs primarily in Black patients and is associated with signatures related to DNA damage from oxidative stress and NTHL1 deficiency-related signatures. Group 3 is associated with defective homologous recombination-based DNA often caused by BRCA mutation in White patients. We observed significantly mutated race related genes (LCE2B in Black, SDR39U1 in White) were (q-value < 0.1). Our findings underscore the possibility of distinct molecular mutation patterns in EAC among different races. Further studies are needed to validate our findings, which could contribute to precision medicine in EAC.
(© 2024. The Author(s).)
Databáze: MEDLINE
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