Exploring the utility of ctDNA testing in high-risk breast cancer patients in a community setting: case series

Despite initial treatment, breast cancer recurrence affects approximately 30% of patients. Currently, there exists no standardized approach to detect recurrence before clinical or radiologic signs manifest. Circulating tumor DNA (ctDNA) is a minimally invasive blood test that offers potential to mon...

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Main Authors: Kasen Wong, Alyssa Kameoka, Jami Aya Fukui
Format: Article
Language:English
Published: SAGE Publishing 2025-07-01
Series:Therapeutic Advances in Medical Oncology
Online Access:https://doi.org/10.1177/17588359251351121
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author Kasen Wong
Alyssa Kameoka
Jami Aya Fukui
author_facet Kasen Wong
Alyssa Kameoka
Jami Aya Fukui
author_sort Kasen Wong
collection DOAJ
description Despite initial treatment, breast cancer recurrence affects approximately 30% of patients. Currently, there exists no standardized approach to detect recurrence before clinical or radiologic signs manifest. Circulating tumor DNA (ctDNA) is a minimally invasive blood test that offers potential to monitor molecular disease and individualize care. This study explores the utility of ctDNA in recurrence monitoring and clinical decision-making for high-risk breast cancer cases within a community setting. Seventy-two patients with high-risk breast cancer features—defined as stage III disease, triple-negative or HR−/HER2+ following neoadjuvant treatment, metastatic breast cancer without evidence of disease, bilateral breast cancer history, high-risk genetics (BRCA1/BRCA2 mutations), <40 years old at diagnosis, or history of breast cancer recurrence—were offered tumor-informed ctDNA assays at 3- to 6-month intervals. Analysis was conducted on 67 cases with a mean diagnostic age of 52.69 at diagnosis. The cohort was ethnically diverse, including White ( n  = 21, 31.82%), Japanese ( n  = 15, 22.73%), Native Hawaiian ( n  = 11, 16.67%), and Filipino ( n  = 7, 10.61%) patients. Seven (10.45%) tests were positive: six predicted recurrence despite four with initially negative radiological findings, and one prompted treatment resumption following prior non-adherence. However, one negative result was false and later showed a contralateral breast recurrence, and another negative test coincided with a new primary cholangiocarcinoma. In two cases, ctDNA negativity was utilized to monitor treatment response in metastatic disease and inform therapeutic adjustments. In real-world settings, ctDNA served as a valuable tool for earlier recurrence prediction, expediting radiological confirmation, and influencing treatment. Nevertheless, false results carry the risk of hindering effective care and inducing considerable patient anxiety. Future large-scale studies are warranted in high-risk breast cancer populations to evaluate ctDNA’s impact on patient survival outcomes, treatment monitoring, and patients’ emotional experiences.
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spelling doaj-art-d169067fdab54fbb9802b9d1a870028f2025-08-20T03:33:18ZengSAGE PublishingTherapeutic Advances in Medical Oncology1758-83592025-07-011710.1177/17588359251351121Exploring the utility of ctDNA testing in high-risk breast cancer patients in a community setting: case seriesKasen WongAlyssa KameokaJami Aya FukuiDespite initial treatment, breast cancer recurrence affects approximately 30% of patients. Currently, there exists no standardized approach to detect recurrence before clinical or radiologic signs manifest. Circulating tumor DNA (ctDNA) is a minimally invasive blood test that offers potential to monitor molecular disease and individualize care. This study explores the utility of ctDNA in recurrence monitoring and clinical decision-making for high-risk breast cancer cases within a community setting. Seventy-two patients with high-risk breast cancer features—defined as stage III disease, triple-negative or HR−/HER2+ following neoadjuvant treatment, metastatic breast cancer without evidence of disease, bilateral breast cancer history, high-risk genetics (BRCA1/BRCA2 mutations), <40 years old at diagnosis, or history of breast cancer recurrence—were offered tumor-informed ctDNA assays at 3- to 6-month intervals. Analysis was conducted on 67 cases with a mean diagnostic age of 52.69 at diagnosis. The cohort was ethnically diverse, including White ( n  = 21, 31.82%), Japanese ( n  = 15, 22.73%), Native Hawaiian ( n  = 11, 16.67%), and Filipino ( n  = 7, 10.61%) patients. Seven (10.45%) tests were positive: six predicted recurrence despite four with initially negative radiological findings, and one prompted treatment resumption following prior non-adherence. However, one negative result was false and later showed a contralateral breast recurrence, and another negative test coincided with a new primary cholangiocarcinoma. In two cases, ctDNA negativity was utilized to monitor treatment response in metastatic disease and inform therapeutic adjustments. In real-world settings, ctDNA served as a valuable tool for earlier recurrence prediction, expediting radiological confirmation, and influencing treatment. Nevertheless, false results carry the risk of hindering effective care and inducing considerable patient anxiety. Future large-scale studies are warranted in high-risk breast cancer populations to evaluate ctDNA’s impact on patient survival outcomes, treatment monitoring, and patients’ emotional experiences.https://doi.org/10.1177/17588359251351121
spellingShingle Kasen Wong
Alyssa Kameoka
Jami Aya Fukui
Exploring the utility of ctDNA testing in high-risk breast cancer patients in a community setting: case series
Therapeutic Advances in Medical Oncology
title Exploring the utility of ctDNA testing in high-risk breast cancer patients in a community setting: case series
title_full Exploring the utility of ctDNA testing in high-risk breast cancer patients in a community setting: case series
title_fullStr Exploring the utility of ctDNA testing in high-risk breast cancer patients in a community setting: case series
title_full_unstemmed Exploring the utility of ctDNA testing in high-risk breast cancer patients in a community setting: case series
title_short Exploring the utility of ctDNA testing in high-risk breast cancer patients in a community setting: case series
title_sort exploring the utility of ctdna testing in high risk breast cancer patients in a community setting case series
url https://doi.org/10.1177/17588359251351121
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