Characterization of AKT Somatic Mutations in Chinese Breast Cancer Patients

Area of Science:

• Oncology
• Genetics
• Molecular Biology

Background:

• The AKT gene pathway is crucial in cell proliferation and survival, making it a target in cancer research.
• Understanding AKT gene mutation status in diverse populations like Chinese breast cancer patients is vital for personalized treatment strategies.

Purpose of the Study:

• To determine the AKT gene mutation status in a cohort of Chinese breast cancer patients.
• To compare AKT gene mutation profiles between Chinese patients and data from The Cancer Genome Atlas (TCGA).

Main Methods:

• Next-generation sequencing (NGS) was used to analyze AKT gene mutations in 411 Chinese breast cancer patients.
• Immunohistochemistry was performed to assess Human Epidermal growth factor Receptor 2 (Her2), Progesterone Receptor (PR), and Estrogen Receptor (ER) expression.
• Data was compared with The Cancer Genome Atlas (TCGA) database.

Main Results:

• The Chinese cohort (GDPH) exhibited distinct clinicopathological features compared to the TCGA cohort, including older age and higher rates of ER and HER2 expression.
• Lower overall AKT and AKT3 mutation rates but a higher AKT1 mutation rate were observed in the GDPH cohort versus TCGA.
• Missense mutations, predominantly the AKT1 E17K mutation, were common in the GDPH cohort, while copy number amplification was more frequent in TCGA.

Conclusions:

• Chinese breast cancer patients show different AKT mutation frequencies and patterns compared to the TCGA cohort, with a notable prevalence of AKT1 E17K missense mutations.
• AKT mutations in this cohort were correlated with specific clinicopathological characteristics such as age, HER2 status, and hormone receptor status.