CASP9 c.-1339A > G and CASP3 c.-1191A > G polymorphisms alter susceptibility and clinical aspects of head and neck squamous cell carcinoma

Author(s)

Dias Costa, Ericka Francislaine ^{[1, 2]} ; Lopes-Aguiar, Leisa ^{[1, 2]} ; Nogueira, Guilherme Silva ^[1] ; Penna Lima, Tathiane Regine ^[1] ; Rinck-Junior, Jose Augusto ^[1] ; Lourenco, Gustavo Jacob ^[2] ; Passos Lima, Carmen Silvia ^{[1, 2]}

Affiliation

^[1] Univ Estadual Campinas, Fac Med Sci, Dept Internal Med, Campinas, SP - Brazil

^[2] Univ Estadual Campinas, Fac Med Sci, Lab Canc Genet, Campinas, SP - Brazil

• Document type: Journal article
• Source: HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK; v. 41, n. 8, p. 2665-2670, AUG 2019.
• Web of Science Citations: 0

Abstract

Background Single nucleotide polymorphisms (SNPs) in genes that act in intrinsic apoptosis pathway may modulate cancer susceptibility. This study investigated the roles of CASP9 c.-1339A>G (rs4645978) and CASP3 c.-1191A>G (rs12108497) SNPs on risk and behavior of head and neck (HN) squamous cell carcinoma (SCC). Methods DNA of 350 patients with HNSCC and 350 controls was analyzed by polymerase chain reaction method for genotyping. Results CASP3 c.-1191AG or GG genotype was more common in patients with HNSCC and oral cavity or oropharynx SCC than in controls; carriers of this genotype were under 2.15 and 2.81-fold increased risks of the respective tumors. CASP9 c.-1339AG or GG plus CASP3 c.-1191AG or GG genotypes were associated with oral cavity or oropharynx SCC early onset. Conclusion These findings present, for the first time, preliminary evidence that inherited abnormalities related to CASP9 c.-1339A>G and CASP3 c.-1191A>G SNPs are determinants of HNSCC risk and clinical aspects. (AU)

• FAPESP's process: 12/01807-2 - Pharmacogenetics of cisplatin in head and neck squamous cell carcinoma
• Grantee: Carmen Silvia Passos Lima
• Support Opportunities: Regular Research Grants