Year: 2024
Type: article
Abstract: 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: A total 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 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. Heterozygous c.5464del (p.Ile1822Serfs*8) variant in the RYR2 gene was novel. Additionally, in 11 patients (23.9%), a total of 13 heterozygous recurrent 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 inevitable that 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.
Authors: Ceren Alavanda, Ayşenur Biber, Berre Altaş, Fatma Berna Çörekçi, Fatma Boz, Zeynep Su Acar, İlter Güney
Institution: Marmara University
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
Funder: Marmara Üniversitesi
OpenAlex ID: W4405374104