Detection of PIK3/AKT pathway in Moroccan population with triple negative breast cancer

Farah Jouali1,2, Nabila Marchoudi3, Salwa Talbi4

  • 1Anoual Laboratory of Radio-Immuno Analysis, Angle Blvd Alexandrieet Blvd Anoual, 20360, Casablanca, Morocco. frh_0712@hotmail.com.

BMC Cancer
|September 20, 2018
PubMed
Abstract

Insights

Mutations in the PIK3CA gene are common in triple-negative breast cancer (TNBC). Identifying these PIK3CA mutations offers potential therapeutic targets for TNBC patients, improving treatment outcomes.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Triple-negative breast cancer (TNBC) lacks specific cell surface markers, leading to limited treatment options.
  • The phosphoinositide 3-kinase (PI3K) pathway is frequently aberrant in TNBC, often due to PIK3CA mutations.
  • Understanding TNBC molecular characteristics is crucial for developing targeted therapies.

Purpose of the Study:

  • To investigate the clinocopathologic and molecular features of the PI3K/AKT/PTEN pathway in Moroccan TNBC patients.
  • To identify genetic mutations in PIK3CA, AKT, and PTEN genes within a cohort of Moroccan TNBC.
  • To correlate genetic findings with clinical-pathologic data in TNBC.

Main Methods:

  • Retrospective analysis of 39 Moroccan TNBC patients diagnosed between 2013 and 2016.
  • Sequencing of hotspot regions in PIK3CA, AKT, and PTEN genes using Ion Personal Genome Machine (PGM) and Ion Torrent Ampliseq Cancer panel.
  • Correlation of identified genetic mutations with available clinical-pathologic information.

Main Results:

  • The study included 39 female patients with a median age of 46 years.
  • Most cases were invasive ductal carcinoma (84.6%) and grade III SBR (69.2%).
  • PIK3CA hotspot mutations were identified in 13% (5/39) of TNBC patients, with mutations found in exons 9 and 20.

Conclusions:

  • The PIK3CA gene is frequently activated in TNBC, highlighting its significant role in disease pathogenesis.
  • PIK3CA mutations represent a potential therapeutic target for improving outcomes in triple-negative breast cancer.
  • Further research into PI3K pathway alterations can guide targeted treatment strategies for TNBC.

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