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[Clinical and Functional Importance of Selected CASP8 and CASP9 Polymorphisms in Breast Carcinoma]

V Brynychová, R Václavíková, K Kubáčková

    Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti
    |December 14, 2016
    PubMed
    Abstract

    Insights

    A CASP9 gene haplotype is linked to breast cancer subtypes and gene expression. This finding may help predict breast carcinoma prognosis and guide treatment decisions.

    Area of Science:

    • Genetics and Molecular Biology
    • Oncology
    • Biochemistry

    Background:

    • Caspase-8 (CASP8) and caspase-9 (CASP9) are key executioner caspases in apoptosis.
    • Dysregulation of apoptosis is implicated in breast cancer development, progression, and therapy resistance.

    Purpose of the Study:

    • To investigate associations between CASP8 and CASP9 gene polymorphisms and their transcript levels.
    • To explore links between these polymorphisms and clinical characteristics of breast carcinoma patients.

    Main Methods:

    • DNA polymorphisms identified using Sanger sequencing, HRM analysis, and allelic discrimination.
    • Gene and alternative splicing variant transcript levels quantified by real-time PCR.
    • Associations validated in a larger cohort of breast carcinoma patients.

    Main Results:

    • A CASP9 haplotype (rs4645978-rs2020903-rs4646034) associated with CASP9 expression, progesterone receptor, ERBB2 expression, and triple-negative breast cancer (TNBC).
    • CASP8 polymorphism rs6723097 linked to disease-free survival in patients receiving hormonal therapy.
    • Some associations for CASP8 polymorphisms require further validation.

    Conclusions:

    • A novel, potentially functional association exists between a CASP9 haplotype and breast carcinoma phenotypes.
    • This association may have clinical utility for breast carcinoma prognostication.
    • Independent studies are recommended to validate these findings.

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