$Efficacy of Olaparib in Treatment-Refractory, Metastatic Breast Cancer with Uncommon Somatic BRCA Mutations Detected in Circulating Tumor DNA$

Medicine and Health

Efficacy of Olaparib in Treatment-Refractory, Metastatic Breast Cancer with Uncommon Somatic BRCA Mutations Detected in Circulating Tumor DNA

J. Yoon, J. Ahn, et al.

This case report by Jung-Ki Yoon and colleagues explores the impact of a rare somatic BRCA1 mutation on metastatic breast cancer treatment. After standard therapies failed, a remarkable response to olaparib was observed, shedding light on its potential for patients with unusual BRCA mutations. However, the emergence of resistance highlights the complexities of treatment strategies. Discover the insights from this intriguing research!

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Playback language: English

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Abstract

This case report details a patient with metastatic breast cancer harboring a rare somatic BRCA1 mutation (c.4336G>T, p.E1446*) detected via cell-free DNA (cfDNA) analysis. Following failure of standard therapies, the patient exhibited a positive response to olaparib, demonstrated by decreased allele frequency of the BRCA1 mutation in cfDNA. However, olaparib resistance eventually developed, concurrent with an increased allele frequency and the emergence of new BRCA1 reversion mutations. This study highlights the potential of olaparib in treating breast cancer with uncommon BRCA mutations and the utility of liquid biopsy in monitoring treatment response and resistance mechanisms.

Publisher

Cancer Research and Treatment

Published On

Jan 31, 2023

Authors

Jung-Ki Yoon, Jongseong Ahn, Sheehyun Kim, Hwang-Phil Kim, Jun-Kyu Kang, Duhee Bang, Yoojoo Lim, Tae-You Kim

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