Genetic mutation hastens the recurrence of breast cancer and reduces the survival rate.


Genetic mutation hastens the recurrence of breast cancer and reduces the survival rate.'

Mutations in the female hormone-related gene (ESR1) have been verified by Gangnam Severance Hospital researchers to speed up breast cancer recurrence, impede endocrine therapy, and reduce survival rates.

A research team from Gangnam Severance Hospital has found that mutations in the female hormone-related gene (ESR1) have an unfavourable influence on breast cancer patients. Professors Jung-Joon, Ahn Sung-gui, and Bae Seung-joon are pictured from left to right.

The female hormone oestrogen is one of the main causes of breast cancer. In 70% of breast tumours, oestrogen receptors can be detected. ESR1 is the gene that codes for the oestrogen receptor, and when it mutates, it prevents endocrine therapy from working and accelerates breast cancer progression.

ESR1 mutations are found in 20-30% of metastatic breast cancer tissues when oestrogen receptor-positive breast cancer spreads to other organs.

Based on the hypothesis that the first breast cancer contains an ESR1 mutation, the team, lead by Professors Jung-joon, Ahn Sung-gui, and Bae Seung-joon of the Department of Breast Surgery, used a digital polymerase chain reaction (PCR) test to try to discover the ESR1 mutation.

From 1997 to 2015, the researchers took paraffin blocks from initial cancer samples from 121 individuals with oestrogen receptor-positive breast cancer who had the recurring disease after surgery. The researchers discovered five types of ESR1 mutations after analysing the DNA retrieved from the sample: E380Q, Y537C, Y537N, Y537S, and D538G.

Following further investigation, the researchers discovered ESR1 mutations in nine of the 121 individuals (7.4 percent).

Patients with the mutation had a 23-month relapse-free time, which was significantly shorter than the 49-month relapse-free period for patients without the mutation.

In the group of patients with the mutation, the overall survival period was just 51 months, compared to 211 months in the group without the mutation.

In the case of primary endocrine therapy resistance, which is defined as recurrence within two years of endocrine therapy, the researchers found that 75 per cent of patients with ESR1 mutations (six out of eight) were in the primary therapy-resistant group, compared to only 24 per cent of patients without the mutation.

Professor Ahn added, "This study implies that taking the new medicine right after breast cancer surgery can assist enhance treatment outcomes." "The findings will be used by the team as essential clinical data in the creation of patient-specific endocrine therapy in the future."

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