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Performing Data Mining And Integrative Analysis Of Biomarker in Breast Cancer Using Multiple Publicly Accessible Databases
07:41

Performing Data Mining And Integrative Analysis Of Biomarker in Breast Cancer Using Multiple Publicly Accessible Databases

Published on: May 17, 2019

8.6K

Analysis of PIK3CA mutations in breast cancer subtypes

Ruza Arsenic, Annika Lehmann, Jan Budczies

    Applied Immunohistochemistry & Molecular Morphology : AIMM
    |January 29, 2014
    PubMed

    Insights

    Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit α (PIK3CA) mutations are common in breast cancer, particularly in HR(+)/HER2(-) subtypes. The H1047R mutation is linked to worse overall survival, warranting further investigation.

    Area of Science:

    • Oncology
    • Molecular Biology
    • Genetics

    Background:

    • The PIK3CA gene encodes a key enzyme in the PI3K/AKT pathway, crucial for cell growth and survival.
    • Mutations in PIK3CA can lead to aberrant signaling, promoting cancer development and progression.
    • Understanding PIK3CA mutation profiles in breast cancer is vital for targeted therapies.

    Purpose of the Study:

    • To investigate the frequency and types of PIK3CA mutations in exons 9 and 20 in primary breast carcinomas.
    • To correlate these mutations with clinicopathologic features and patient survival.
    • To identify potential prognostic implications of specific PIK3CA mutations.

    Main Methods:

    • DNA was extracted from frozen tissue samples of 241 primary breast carcinoma patients.
    • Exons 9 and 20 of the PIK3CA gene were sequenced to identify mutations.
    • Statistical analyses were performed to correlate mutation status with clinical parameters and survival data.

    Main Results:

    • PIK3CA mutations were identified in 15.8% of the analyzed breast carcinomas.
    • Mutations were most frequent in hormone receptor-positive/HER2-negative (HR(+)/HER2(-)) tumors (18.6%).
    • The H1047R mutation was significantly associated with poorer overall survival.

    Conclusions:

    • PIK3CA mutations are frequent genetic alterations in breast cancer across various subtypes.
    • While overall mutation presence didn't correlate with most clinical features, the H1047R variant shows prognostic significance.
    • Further research is necessary to validate the prognostic impact of specific PIK3CA mutations in breast cancer management.

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