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


Experimenters at Gangnam Severance Hospital have verified that mutations in the womanish hormone-related gene (ESR1) accelerate breast cancer rush, inhibit endocrine remedy, and affect the survival rate.

Estrogen, the womanish hormone, is one of the main factors that beget breast cancer. Estrogen receptors are set up in 70 per cent of breast cancers. The gene garbling the estrogen receptor is ESR1, and when this gene mutates, it inhibits the endocrine remedy's effect and promotes breast cancer progression.

When estrogen receptor-positive breast cancer metastasizes to other organs, ESR1 mutations are detected in 20- 30 per cent of metastatic cancer napkins.

The team, led by Professors Jung- Joon, Ahn Sung- GUI, and Bae Seung- Joon of the Department of Breast Surgery, tried to find the ESR1 mutation through a digital polymerase chain response (PCR) test grounded on the thesis that the first breast cancer has an ESR1 mutation.

The experimenters collected paraffin blocks from primary cancer samples from 121 cases with estrogen receptor-positive breast cancer who had intermittent breast cancer after surgery from 1997 to 2015. After assaying the DNA uprooted from the sample, the team linked five types of ESR1 mutations-- E380Q, Y537C, Y537N, Y537S, and D538G.

As a result of further analysis, the team detected ESR1 mutation in nine out of 121 cases (7.4 per cent).

The breast cancer rush-free period of cases with the mutation was 23 months, faster than the relapse-free period of 49 months for cases without the mutation.

The overall survival time was only 51 months in the group of cases with the mutation, veritably low compared to 211 months in the group without the mutation.

The team also verified that in the case of primary endocrine remedy resistance, which means rushing within two times after endocrine remedy, 75 per cent (six in eight) cases with ESR1 mutations belonged to the primary remedy-resistant group compared to 24 per cent of cases without the mutation.

“This study suggests that using the new medicine incontinently after breast cancer surgery can help ameliorate treatment issues,” Professor Ahn said. “The team will use the study results as important clinical data in the unborn development of case-specific endocrine remedy.”

The exploration results were published in the “NPJ Breast Cancer.”

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