外显子组测序揭示泰国最南端地区乳腺癌患者的新型种系变异。

Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand.

作者信息

Sukpan Panupong, Sangkhathat Surasak, Sriplung Hutcha, Laochareonsuk Wison, Choochuen Pongsakorn, Auseng Nasuha, Khoonjan Weerawan, Salaeh Rusta, Thangnaphadol Kornchanok, Wanawanakorn Kasemsun, Kanokwiroon Kanyanatt

机构信息

Department of Biomedical Sciences and Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand.

Medical Education Center, Naradhiwas Rajanagarindra Hospital, Narathiwat 96000, Thailand.

出版信息

J Pers Med. 2023 Nov 9;13(11):1587. doi: 10.3390/jpm13111587.

DOI:10.3390/jpm13111587

PMID:38003901

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10672121/

Abstract

Germline carriers of pathogenic variants in cancer susceptibility genes are at an increased risk of breast cancer (BC). We characterized germline variants in a cohort of 151 patients diagnosed with epithelial BC in the southernmost region of Thailand, where the predominant ethnicity differs from that of the rest of the country. Whole exome sequencing was used to identify and subsequently filter variants present in 26 genes known to be associated with cancer predisposition. Of the 151 individuals assessed, 23, corresponding to 15.2% of the sample, exhibited the presence of one or more pathogenic or likely pathogenic variants associated with BC susceptibility. We identified novel germline truncating variants in , , , , and and annotated variants of uncertain significance (VUSs), both novel and previously documented. Therefore, it is advisable to use genetic testing as an additional risk screening method for BC in this area.

摘要

癌症易感基因致病性变异的种系携带者患乳腺癌（BC）的风险增加。我们对泰国最南端地区151例被诊断为上皮性乳腺癌的患者队列中的种系变异进行了特征分析，该地区的主要种族与泰国其他地区不同。采用全外显子组测序来识别并随后筛选已知与癌症易感性相关的26个基因中存在的变异。在评估的151名个体中，23名（占样本的15.2%）表现出存在一种或多种与BC易感性相关的致病性或可能致病性变异。我们在、、、和中鉴定出了新的种系截短变异，并注释了意义不明确的变异（VUS），包括新的和先前记录的。因此，建议将基因检测作为该地区BC的一种额外风险筛查方法。