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
Tags
metastatic breast cancer
BRCA1 mutation
olaparib
cfDNA analysis
treatment response
liquid biopsy
drug resistance
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