Akademik Veri Yönetim Sistemi
CLINICAL AND EXPERIMENTAL HEALTH SCIENCES, cilt.14, sa.4, ss.1021-1027, 2024 (ESCI, TRDizin)
Objective: A secondary finding (SF) is characterized as a genetic variant that could have medical significance but is not connected to the primary purpose of the testing. SFs were published in various communities with diverse ethnic backgrounds, however, there is limited data for patient groups with specific clinical conditions. Methods: Atotal of 46 PitNETs patients were included in this study. The 81 genes recommended by the latest ACMG SF guideline (v3.2) were screened in 46 Turkish pituitary neuroendocrine tumor (PitNET) patients. Results: For the NGS study, ''The TrueSight One Expanded" sequencing kit containing 6.704 genes (including all ACMG SF v3.2 genes) was used, and sequencing was performed using the Illumina Nextseq 550 platform. In the 81 genes included in ACMG v3.2, a total of 9.430 variants were detected in 46 patients. After filtration steps, in 3 (6.5%) patients, a total of 4 different pathogenic variants were detected in LMNA, APOB, RYR2, and TTN genes. The heterozygous c.5464del (p.Ile1822Serfs*8) variant in the RYR2 gene was novel. Additionally, in 11 patients (23.9%), a total of 13 heterozygous known variants were detected in 5 different genes ( BTD, HFE, GAA, MUTYH, and ATP7B) associated with autosomal recessive diseases. Conclusion: The limited knowledge about the genetic etiology of PitNETs makes it inevitablethat studies conducted in this field will contribute to shedding light on the etiology. This study, being the first investigation of SFs in PitNET patients, will make a valuable contribution to the literature..