Türkiye’deki kanser hastalarında kalıtsal PALB2 gen varyantlarının yeni nesil dizileme yöntemiyle araştırılması

Aim: The study aimed to investigate germline PALB2 gene variants in 1056 cancer patients in Türkiye, selected based on the National Comprehensive Cancer Network guidelines for genetic/familial high-risk assessment related to breast, ovarian, and pancreatic cancer. Materials and Methods: The next-generation sequencing analysis of genomic DNA was performed using a Sophia Hereditary Cancer Solutions Panel for PALB2 gene mutation screening. Results: The PALB2 genetic variants were detected in 48 patients, including 20 patients with pathogenic or likely pathogenic variants and 28 patients with variants of uncertain significance. The most common PALB2 mutations were the frameshift mutations c.557dupA p.(Asn186Lysfs*4) and c.509_510del p.(Arg170Ilefs*14), found in 0.57% and 0.28% of patients, respectively. Conclusion: The findings of the study emphasize the importance of PALB2 gene analysis for breast cancer predisposition in Türkiye.