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

TitleSomatic mutations of esophageal adenocarcinoma: a comparison between Black and White patients.
Publication TypeJournal Article
Year of Publication2024
AuthorsLim, H, Gingras, M-C, Zhao, J, Byun, J, Castro, PD, Tsavachidis, S, Hu, J, Doddapaneni, H, Han, Y, Muzny, DM, Gibbs, RA, Amos, CI, Thrift, AP
JournalSci Rep
Date Published2024 Apr 18
KeywordsAdenocarcinoma, Black or African American, Esophageal Neoplasms, Exome Sequencing, Female, Humans, Male, Mutation, White

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 

Alternate JournalSci Rep
PubMed ID38637560
PubMed Central IDPMC11026501
Grant ListRP210037 / / Cancer Prevention and Research Institute of Texas /

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