Department of Biomedical Sciences and Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla, Thailand.
Medical Education Center, Naradhiwas Rajanagarindra Hospital, Narathiwas, Thailand.
Asian Pac J Cancer Prev. 2023 Feb 1;24(2):525-530. doi: 10.31557/APJCP.2023.24.2.525.
BRCA1 and BRCA2 genes are known to increase breast cancer's lifetime risk. Early identification of women with this inherited risk can potentially reduce the risk of breast and/or ovarian cancer and, together with early screening, decrease the mortality rate.
This study explored the frequency and distribution of genetic variants in consecutive cases of breast cancer in Narathiwat province, one of the three provinces in the southernmost Thai border.
MATERIAL & METHOD: A series of 64 consecutive breast cancer patients who underwent treatment in two general hospitals in the province during the period from the year 2021 to 2022. Genotyping studies were performed using a whole exome sequencing platform. Moderate to high penetrance variants recommended by the National Comprehensive Cancer Network (NCCN) guidelines 2022 (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) were annotated and filtered for pathogenic, likely pathogenic, or high-impact variants.
Pathogenic germline variants were found in 8/64 cases (12.5%), namely BRCA1 in 3 (4.7%), BRCA2 in 4 (6.3%), ATM in 1 (1.6%), and PALB2 in 1 (1.6%). One patient had two concomitant germline mutations in BRCA2 and ATM.
This is the first study on the frequency of germline mutations in BRCA1/2 and other breast cancer-predisposing genes in the southernmost provinces of Thailand. At least one pathogenic germline mutation was identified in 12.5% of the study patients, which suggests that genetic testing in this population has a high potential to provide benefits.
BRCA1 和 BRCA2 基因已知会增加乳腺癌的终身风险。早期识别具有这种遗传风险的女性，有可能降低乳腺癌和/或卵巢癌的风险，并且结合早期筛查，降低死亡率。
本研究探讨了在泰国最南端的三个省份之一那拉提瓦省连续乳腺癌病例中的基因变异频率和分布。
对 2021 年至 2022 年期间在该省两家综合医院接受治疗的 64 例连续乳腺癌患者进行了一系列研究。使用外显子组测序平台进行基因分型研究。根据 2022 年国家综合癌症网络 (NCCN) 指南（ATM、BARD1、BRCA1、BRCA2、CDH1、CHEK2、NF1、PALB2、PTEN、RAD51C、RAD51D、STK11、TP53）推荐的中度至高度外显率变异，对具有致病性、可能致病性或高影响的变异进行注释和筛选。
在 64 例病例中有 8 例（12.5%）发现了种系致病性变异，分别为 BRCA1 3 例（4.7%）、BRCA2 4 例（6.3%）、ATM 1 例（1.6%）和 PALB2 1 例（1.6%）。1 例患者同时存在 BRCA2 和 ATM 两种种系突变。
这是泰国最南部省份 BRCA1/2 及其他乳腺癌易感基因种系突变频率的首次研究。在研究患者中至少有 12.5%存在致病性种系突变，这表明该人群的基因检测具有很大的获益潜力。
