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Increased risk of contralateral breast cancer for BRCA1/2 wild-type, high-risk Korean breast cancer patients: a retrospective cohort study
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Increased risk of contralateral breast cancer for BRCA1/2 wild-type, high-risk Korean breast cancer patients: a retrospective cohort study
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Increased risk of contralateral breast cancer for BRCA1/2 wild-type, high-risk Korean breast cancer patients: a retrospective cohort study
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Journal Article
Increased risk of contralateral breast cancer for BRCA1/2 wild-type, high-risk Korean breast cancer patients: a retrospective cohort study
2024
Overview
Background
This study aimed to investigate the contralateral breast cancer (CBC) recurrence rate in Korean breast cancer patients according to their
BRCA1/2
germline mutation status, focusing particularly on the CBC recurrence risk in
BRCA1/2
negative (
BRCAx
) patients.
Methods
We conducted a retrospective study on 13,107 primary breast cancer patients. The patients were divided into high-risk and low-risk groups for hereditary breast cancer based on the Korean National Health Insurance Service’s eligibility criteria for
BRCA1/2
germline mutation testing. The high-risk group was further categorized into the
BRCA
mutation group
, the
BRCAx
group
, and the
not tested group
. We evaluated the overall survival and cumulative risk of developing CBC in these patients.
Results
Among 4494 high-risk patients, 973 (21.7%) underwent genetic testing for
BRCA1/2
germline mutation, revealing mutations in 158 patients (16.2%). We observed significant overall survival differences across all four groups, with the high-risk, not-tested group demonstrating notably worse overall survival (
p
< 0.001). However, when adjusted for other prognostic factors, there was no significant differences in hazard ratio of death between the four groups. The cumulative risk of CBC also varied among the groups. Patients with
BRCA1/2
mutations showed a 7.3-fold increased risk of CBC compared to the low-risk group (95% CI 4.11–13.0,
p
< 0.001). Interestingly,
BRCAx
patients also demonstrated a significantly higher risk of CBC (HR 2.77, 95% CI 1.76–4.35,
p
< 0.001). The prognostic importance of the
BRCAx
for CBC recurrence persisted after adjusting for the age and subtype, but became insignificant when the family history of breast cancer was adjusted.
Conclusion
Breast cancer patients who are at high risk of hereditary breast cancer but with wild-type
BRCA 1/2
genes (
BRCAx
) have increased risk of developing contralateral breast cancer when compared to the low-risk patients. More careful surveillance and follow-up can be offered to these patients especially when they have family history of breast cancer.
