Investigation of the germline PALB2 variants in cancer patients using the next-generation sequencing in Türkiye

Yıl 2023, Cilt: 9 Sayı: 3, 169 - 181, 31.12.2023

Şeref Buğra Tunçer , Seda Kılıç Erciyas , Özge Şükrüoğlu Erdoğan , Betül Çelik , Zübeyde Yalnız Kayım , Büşra Kurt Gültaşlar

https://doi.org/10.30569/adiyamansaglik.1378620

Öz

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.

Anahtar Kelimeler

PALB2, Germline mutations, Hereditary cancer risk factor

Etik Beyan

This study was approved by the Clinical Research Ethics Committee of Istanbul Faculty of Medicine in Istanbul University with the decision number of 2023/500 dated 17.03.2023. The study was in compliance with the Helsinki Declaration.

Destekleyen Kurum

No sponsorship or funding from agencies in the commercial sectors were received for this research.

Teşekkür

We would like to convey our sincere gratitude to Kadriye Gümüş for the exceptional English editing service and to the Oncology Institute of Istanbul University for their support and resources throughout this study. We are also grateful to all the participants who generously contributed their time and samples to this research. Their involvement was crucial in enabling us to investigate the germline PALB2 mutations in cancer patients in Türkiye. We would also like to acknowledge the invaluable assistance and guidance of our research team members. Their expertise and dedication significantly contributed to the success of this study.

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

Öz

Amaç: Çalışmada, meme, yumurtalık ve pankreas kanseri ile ilgili genetik/ailesel yüksek risk değerlendirmesi için Ulusal Kapsamlı Kanser Ağı kılavuzlarına göre seçilen, Türkiye'deki 1056 kanser hastasında germline PALB2 geni varyantlarının araştırılması amaçlandı.
Gereç ve Yöntem: PALB2 geni mutasyon taraması için Sophia Kalıtsal Kanser Çözümleri Paneli kullanılarak genomik DNA'nın yeni nesil dizileme analizi gerçekleştirildi.
Bulgular: PALB2 genetik varyantları, 20 hastada patojenik veya muhtemel patojenik varyant ve 28 hastada belirsiz öneme sahip varyantlara sahip olmak üzere toplam 48 hastada tespit edildi. En yaygın PALB2 mutasyonları, hastaların sırasıyla %0,57 ve %0,28'inde bulunan c.557dupA p.(Asn186Lysfs*4) ve c.509_510del p.(Arg170Ilefs*14) çerçeve kayması mutasyonlarıydı.
Sonuç: Araştırma bulguları, Türkiye'de meme kanseri yatkınlığı açısından PALB2 gen analizinin önemini vurgulamaktadır.

Anahtar Kelimeler

PALB2, Germline mutasyonlar, Kalıtsal kanser risk faktörü

Etik Beyan

This study was approved by the Clinical Research Ethics Committee of Istanbul Faculty of Medicine in Istanbul University with the decision number of 2023/500 dated 17.03.2023. The study was in compliance with the Helsinki Declaration.

Destekleyen Kurum

No sponsorship or funding from agencies in the commercial sectors were received for this research.

Teşekkür

We would like to convey our sincere gratitude to Kadriye Gümüş for the exceptional English editing service and to the Oncology Institute of Istanbul University for their support and resources throughout this study. We are also grateful to all the participants who generously contributed their time and samples to this research. Their involvement was crucial in enabling us to investigate the germline PALB2 mutations in cancer patients in Türkiye. We would also like to acknowledge the invaluable assistance and guidance of our research team members. Their expertise and dedication significantly contributed to the success of this study.

Kaynakça

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