What question did this study set out to answer?

To identify clinically actionable mutations using precision medicine and evaluate liquid biopsy monitoring in a patient with recurrent low-grade serous ovarian cancer.

February 6, 2022Case Reports in Women s HealthOpen Access

Investigating a clinically actionable BRAF mutation for monitoring low-grade serous ovarian cancer: A case report

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Authors

RSR. SilvaUniversity College Dublin BMBruce MoranUniversity College Dublin SDSudipto DasRoyal College of Surgeons in Ireland

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Implication

Case report reveals detectable BRAF mutations in circulating tumor DNA in advanced ovarian cancer, highlighting liquid biopsy utility for tracking disease.

Key Points

To identify clinically actionable mutations using precision medicine and evaluate liquid biopsy monitoring in a patient with recurrent low-grade serous ovarian cancer.
Collected primary, metastatic, and recurrent tumor tissues along with blood samples from a single patient with stage IV low-grade serous ovarian cancer (N=1).
Performed single-gene testing for BRAF V600, KRAS, and NRAS, followed by whole-exome sequencing across tumor samples.
Engineered a droplet digital PCR assay to track the identified BRAF D594G mutation in matched plasma cell-free DNA.
Single-gene clinical testing detected no actionable alterations, whereas whole-exome sequencing revealed a BRAF D594G mutation in six of seven tumor samples.
Treatment with the MEK inhibitor trametinib led to minimal clinical response in the patient.
The customized droplet digital PCR assay successfully identified the BRAF alteration in both matched tumor tissues and liquid biopsy cell-free DNA.

Cite This Study

Silva et al. (2022) studied this question.

synapsesocial.com/papers/6aadd7eb54c33b521da35291 https://doi.org/10.1016/j.crwh.2022.e00395

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Implication

Case report reveals detectable BRAF mutations in circulating tumor DNA in advanced ovarian cancer, highlighting liquid biopsy utility for tracking disease.

Investigating a clinically actionable BRAF mutation for monitoring low-grade serous ovarian cancer: A case report

Discussion

Member takes

Implication

Key Points

Cite This Study

Investigating a clinically actionable BRAF mutation for monitoring low-grade serous ovarian cancer: A case report

Discussion

Member takes

Implication

Key Points

Cite This Study

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