Genetic Mutant Breast Cancer High Risk Group Has 7.3 Times Higher Risk of Adverse Cancer

Oct 09, 2024

Genetic Mutant Breast Cancer High Risk Group Has 7.3 Times Higher Risk of Adverse Cancer
Caption">Current risk of breast cancer on the other side of the high risk group for hereditary breast cancer. BRCA1/2 mutant patients had a 7.3-fold higher risk of developing opposing breast cancer compared to the low-risk group, and BRCA1/2 mutant-free high-risk group also had a 2.77-fold higher risk of developing opposing breast cancer compared to the low-risk group. Data provision = Seoul National University Hospital



A research team at Seoul National University Hospital announced that breast cancer patients without BRCA1 and BRCA2 (hereinafter referred to as BRCA1/2) gene mutations may have a high risk of developing collateral breast cancer (CBC), that is, opposite breast cancer.

Studies have shown that high-risk breast cancer patients without the BRCA1/2 mutation also have a high risk of developing opposing breast cancer, and the risk may be further increased, especially for those with a family history, suggesting the need for customized care.

Professor Moon Hyung-gon and Kang Eun-hye of breast endocrine surgery at Seoul National University Hospital announced the results of a retrospective cohort study that analyzed the data of 13,107 breast cancer patients treated at Seoul National University Hospital from 2005 to 2018, evaluating the overall survival rate and the risk of developing opposite breast cancer, and analyzing the clinical prognosis related to the presence or absence of BRCA1/2 mutations.



Breast cancer is one of the most common female cancers in Korea, especially in younger age groups, and is closely related to family history and genetic factors. The BRCA1/2 gene is an important gene that significantly increases the risk of developing breast and ovarian cancer, and when mutations occur, DNA repair function becomes problematic and the risk of cancer increases rapidly. BRCA1/2 gene mutation patients have a high rate of recurrence of contralateral breast cancer after breast cancer development, but studies in high-risk patients without BRCA1/2 gene mutation have not yet been sufficient.

The research team divided patients into low-risk and high-risk groups according to the BRCA1/2 genetic mutation test criteria, and the low-risk groups were classified as patients with low genetic factors or low risk of BRCA1/2 mutation, and the high-risk groups were classified as patients with high genetic breast cancer due to factors such as a family history of breast cancer, diagnostic age, and triple negative breast cancer. High-risk patients were again subdivided into ▲ BRCA1/2 mutant patients ▲ BRCA1/2 mutant-free patients ▲ patients who did not undergo genetic testing according to the presence or absence of BRCA1/2 gene mutations.



As a result of the study, patients with the BRCA1/2 mutation had a 7.3-fold higher risk of developing opposing breast cancer compared to the low-risk group, and high-risk patients without the BRCA1/2 mutation also had a 2.77-fold higher risk of developing it compared to the low-risk group.

In addition, when looking at the 10-year cumulative probability of developing opposite breast cancer, BRCA1 mutation patients were 9.9% and BRCA2 mutation patients were 7.2%, which is relatively lower than the previously studied probability of developing opposite breast cancer (19.5% to 33.5%) in North American and European patients.



This finding shows that the risk of developing opposing breast cancer may be higher in high-risk patients without BRCA1/2 mutation, especially those with a family history, than in general patients, and it has clinical significance as a study conducted based on data from large Korean breast cancer patients.

Professor Eun-hye Kang (baby endocrine surgery) "BRCA1/2 genetic mutation test is performed on patients with high probability of hereditary breast cancer, and patients without mutation are more likely to develop opposite breast cancer than ordinary patients."In particular, patients with a family history need continuous follow-up" he stressed.

Professor Hyung-Gon Moon (Broast Endocrine Surgery) showed that patients with BRCA1/2 gene mutations had a relatively low probability of developing opposite breast cancer, about 10%"We need a customized treatment strategy that reflects these differences."

The results of the study were published in the recent issue of the international journal 『Breast Cancer Research』.

Genetic Mutant Breast Cancer High Risk Group Has 7.3 Times Higher Risk of Adverse Cancer
Professors Moon Hyung-gon (left) and Kang Eun-hye


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