AI Summary & Key Takeaways
AI InsightAppropriate genetic counseling should be given to patients with TP53 gene mutations, and the follow-up of these patients should be provided multidisciplinary.
📌 3 Key Takeaways
Abstract
OBJECTIVEGermline mutations in the TP53 gene cause Li-Fraumeni Syndrome (LFS). Breast cancer (BC) is the most common cancer that is seen in young women with LFS. The majority of BC in LFS occurs between 15 and 44 age of years. The present study aims to determine the frequency of TP53 gene germline muta-tion carriers in Turkish patients with BRCA-negative BC under 50 years of age as the first study from Turkey, to our knowledge, and to emphasize the importance of management in TP53 gene mutation carriers.METHODSOne hundred patients with BRCA-negative BC younger than 50 years old were evaluated concerning mutations in the TP53 gene between 2016 and 2017 years. Sequencing analysis using targeted next-gen-eration sequencing (NGS) and deletion/duplication analysis using multiplex ligation-dependent probe amplification (MLPA) method were performed in TP53 gene in all patients.RESULTSFive variants were identified in five of 100 patients (5%) in this study. Four of them were evaluated as known as pathogenic/likely pathogenic (4%; 4/100). One variant was evaluated as a variant of uncertain clinical significance (VUS).CONCLUSIONThe patients with BRCA-negative BC younger than 50 years old should be evaluated concerning TP53 gene mutations because of increased lifetime risk of various developing cancer. Appropriate genetic counseling should be given to patients with TP53 gene mutations, and the follow-up of these patients should be provided multidisciplinary.