Impact of Ethnicity on Somatic Mutation Rates of Pancreatic Adenocarcinoma.

ABSTRACT:

Background/aim

Ethnicity has an effect on survival in patients with pancreatic adenocarcinoma (PDAC), which may be reflected in the rate of somatic driver mutations. The Brazilian population represents au extensive interethnic admixture and little is known about the spectrum and rates of somatic driver mutations in Brazilian PDAC cases.

Materials and methods

Direct sequencing of six genes in 23 PDAC cases was performed and the ancestry of patients was determined using a validated panel of ancestry-informative insertion/deletion DNA polymorphisms.

Results

KRAS proto-oncogene (KRAS) was the most commonly mutated gene (60%). A novel putatively pathogenic mutation in phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) (c.2948T>A; p.M983K) was i

SUBMITTER: Amaral NS 

PROVIDER: S-EPMC6365728 | biostudies-literature | 2018 Nov-Dec

REPOSITORIES: biostudies-literature