Nine genes related to breast cancer were found in a large international analysis of 113,000 women worldwide.
The International Breast Cancer Research Consortium announced the results of a study entitled’Breast cancer susceptibility genes and breast cancer risk.’ In Korea, Kim Sung-won, director of Daelim St. Mary’s Hospital, and Korean hereditary breast cancer research participated in this consortium.
This study consists of 44 studies related to breast cancer risk genes, and the participants are 60,000 breast cancer patients and 53,000 people, the largest of these studies.
The research team analyzed the relationship between protein production termination mutations and amino acid production error mutations in breast cancer. Protein production termination mutation is a mutation in which normal protein production is stopped, and amino acid production error mutation refers to a mutation in which the amino acid composition is changed.
As a result of the analysis, mutations in protein production termination in nine genes were associated with breast cancer. In particular, CHECK2 and ATM mutations were closely related to estrogen hormone receptor-positive breast cancer, and seven of the nine genes were related to estrogen hormone receptor-negative breast cancer.
In addition, it was confirmed that the rare mutations in amino acid production in CHEK2, ATM, and TP53, and the mutations in BRCA1, BRCA2, and TP53, which are classified as pathogenic, are also associated with breast cancer risk.
“The genetic mutation required for the multi-gene panel test, which is tested to predict the risk of breast cancer, has been identified.” Expressed expectations.
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