[의학신문·일간보사=이상만 기자] A multinational research team led by domestic researchers has been drawing attention internationally because it has identified a high-risk gene for breast cancer.
A multinational research team that participated in Daelim St. Mary’s Hospital Director Kim Seong-won and the Korean Hereditary Breast Cancer Study (KOHBRA) published the results of a study on’breast cancer susceptibility genes and risk of developing breast cancer’ in an international journal.
The research results were published in the New England Journal of Medicine (NEJM) January 21, 2021, the leading medical journal. NEJM also scored 74.7 points, higher than the famous scientific journals’Science’ and’Nature’ in its Impact Factor, which represents the influence of academic journals.
This study, under the theme of’Breast cancer risk genes: association analysis in more than 113,000 women’, was obtained from 44 studies with 60,466 female breast cancer patients and the general control group. Samples of 53,461 females were subjected to multiple gene-panel testing.
This is the largest breast cancer gene study, and the panel was composed of 34 genes, including the most well-known breast cancer susceptibility genes BRCA1 and BRCA2. The researchers analyzed the association of the composed genes with breast cancer.
As a result of the analysis, mutations in protein production of 9 genes (ATM, BRCA1, BRCA2, CHEK2, PALB2, BARD1, RAD51C, RAD51D, TP53) were associated with breast cancer risk. Among these, mutations in CHEK2 and ATM genes were highly related to estrogen hormone receptor-positive breast cancer, and mutations in BARD1, BRCA1, BRCA2, PALB2, RAD51C, RAD51D, and TP53 genes were related to estrogen hormone receptor-negative breast cancer.
In addition, it was confirmed that the amino acid production error mutation, which is rarely found in the CHEK2, ATM, and TP53 genes, and the error mutation in the BRCA1, BRCA2, and TP53 genes classified as pathogenic, are also associated with breast cancer risk.
Kim Sung-won, director of Daelim St. Mary’s Hospital, who participated in this study, said, “We have identified genetic mutations that must be included in the multiple gene panel test that is tested to predict breast cancer risk.” “The results of this study are based on breast cancer screening tests, drugs, and surgery. We expect to be of great help in defining guidelines for breast cancer prevention.
Reporter Lee Sang-man [email protected]
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