Impact of ethnicity on somatic mutation rates of pancreatic adenocarcinoma

Nayra S. Amaral, Vivian Resende, José Sebastião Dos Santos, Luiz Felipe Lima, Debora C. Moraes, Eitan Friedman, Luiz De Marco*, Luciana Bastos-Rodrigues

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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 identified. Mutations in epidermal growth factor receptor (EGFR) (4%), PIK3CA (4%), cyclindependent kinase inhibitor 2A (CDKN2A) (4%) and TP53 (8%) were noted, in rates that are less frequent than those reported for other populations. Mutations of B-Raf proto-oncogene, serine/threonine kinase (BRAF) were not present. All individuals with high African ancestral component (allelic frequency, >0.45) exhibited KRAS mutations. Conclusion: Our results highlight the importance of the effect of ethnicity on somatic mutations in Brazilian patients with PDAC.

Original languageEnglish
Pages (from-to)1527-1531
Number of pages5
JournalIn Vivo
Issue number6
StatePublished - 1 Nov 2018
Externally publishedYes


FundersFunder number
Conselho Nacional de Desenvolvimento Científico e Tecnológico405053/2013–4
Fundação de Amparo à Pesquisa do Estado de Minas GeraisCDS-RED-00019-16


    • BRAF
    • CDKN2A
    • EGFR
    • Ethnicity
    • KRAS
    • PIK3CA
    • Pancreatic cancer
    • TP53


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