2Department of General Surgery, Health Sciences University İzmir Tepecik Training and Research Hospital, İzmir-Turkey
3Department of Medical Oncology, Health Sciences University İzmir Tepecik Training and Research Hospital, İzmir-Turkey
4Department of Radiation Oncology, Health Sciences University İzmir Tepecik Training and Research Hospital, İzmir-Turkey DOI : 10.5505/tjo.2020.2107 OBJECTIVE
Germline 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 mutation 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.
METHODS
One 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-generation
sequencing (NGS) and deletion/duplication analysis using multiplex ligation-dependent probe
amplification (MLPA) method were performed in TP53 gene in all patients.
RESULTS
Five 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).
CONCLUSION
The 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.