Reclassification of Hereditary Cancer Genes Variants
Yeşim ÖZDEMİR1,Murat ÇAĞ2,Serhat SEYHAN3,Yusuf ÖZKUL4,Munis DÜNDAR4,Aylin KONYA5
1Deparment of Medical Genetics, Üsküdar University, İstanbul-Türkiye
2Deparment of General Surgery, Memorial Hospital, İstanbul-Türkiye
3Deparment of Medical Genetics, Memorial Hospital, İstanbul-Türkiye
4Deparment of Medical Genetics, Erciyes University, İstanbul-Türkiye
5Department of Pulmonology, Memorial Hospital, İstanbul-Türkiye
DOI : 10.5505/tjo.2022.3529 OBJECTIVE
In this study, pathogenic, likely pathogenic and variant of uncertain significance/variant unknown significance (VUS) identified in the Hereditary Cancer Panel Genes between 2016 and 2017 and specified in the report are re-examined in 2022 and shown whether they have changed over time.

Containing 26 genes in 2016-2017 variants of patients with pathogenic/likely pathogenic/VUS detected in the Hereditary Cancer Panel were analyzed again in 2022 on Clinvar (https://www.ncbi.nlm.nih.gov/ clinvar/) and other databases.

The results of a total of 137 patients, 137 women and 2 men, were evaluated. While no pathogenic/ likely pathogenic/VUS variant was detected in the results of 95 patients, at least 1 variant was detected in 42 female patients. A total of 58 variants were detected in 42 patients, and we found that 24 variants among them fell into a different class. While 12 more variants were included in the lower pathogenicity subgroup, 5 of them were higher in pathogenicity. We saw that 6 variants that were not yet identified in 2016-2017 were identified, except for 1 of them.

We have seen that the pathogenicity of the variants written in patient reports, which can cause serious changes in the patient"s life, can change over time. While giving genetic counseling about these variants, it should be stated that much more comprehensive research and information should be given to the patient, this information was given to the patient under the current conditions and that there may be a possibility of change in the future. Keywords : Hereditary breast cancer; variant of uncertain significance; variant reclassification; VUS