Abrahim Sheherazade Crystal, Bansraj Dulari, Edwards Royanne, Thompson Reinand, Rambaran Roma, Roach Allana, Warner Wayne A, Chalapathi Rao A V, Unakal Chandrashekar, Haraksingh Rajini Rani
Department of Life Sciences Faculty of Science and Technology The University of the West Indies St. Augustine Trinidad and Tobago Department of Life Sciences, Faculty of Science and Technology, The University of the West Indies, St. Augustine, Trinidad and Tobago.
Department of Para-Clinical Sciences Faculty of Medical Sciences The University of the West Indies St. Augustine Trinidad and Tobago Department of Para-Clinical Sciences, Faculty of Medical Sciences, The University of the West Indies, St. Augustine, Trinidad and Tobago.
Rev Panam Salud Publica. 2025 May 20;49:e52. doi: 10.26633/RPSP.2025.52. eCollection 2025.
To investigate whether the quality and quantity of genomic DNA harnessed from existing formalin-fixed paraffin-embedded (FFPE) breast cancer biopsy tissue samples in the public health system of Trinidad and Tobago (T&T) were sufficient for downstream genetic testing and to investigate the occurrence of the common breast cancer susceptibility gene 1 () mutation, -185delAG, in these samples.
Genomic DNA was extracted from 67 FFPE samples using a standard protocol (Qiagen). Samples were genotyped using polymerase chain reaction (PCR) and Sanger sequencing.
The genomic DNA was highly fragmented in the 250-500 bp range. The quality and quantity only allowed testing of one variant. This study successfully genotyped 34 of 67 FFPE breast cancer tissue biopsy samples for the -185delAG mutation. This mutation was not detected in the 34 samples.
Existing FFPE cancer tissue biopsies in the public health system in T&T are of limited utility for genetic testing. The absence of the -185delAG mutation in the limited number of breast cancer samples tested does not preclude its existence in this population. Further investigations are needed to determine the extent of clinically relevant breast cancer-associated mutations in this population.
调查从特立尼达和多巴哥（T&T）公共卫生系统中现有的福尔马林固定石蜡包埋（FFPE）乳腺癌活检组织样本中获取的基因组DNA的质量和数量是否足以进行下游基因检测，并调查这些样本中常见的乳腺癌易感基因1（）突变-185delAG的发生情况。
使用标准方案（Qiagen）从67个FFPE样本中提取基因组DNA。使用聚合酶链反应（PCR）和桑格测序对样本进行基因分型。
基因组DNA在250 - 500 bp范围内高度片段化。质量和数量仅允许检测一个变体。本研究成功地对67个FFPE乳腺癌组织活检样本中的34个进行了-185delAG突变的基因分型。在这34个样本中未检测到该突变。
T&T公共卫生系统中现有的FFPE癌症组织活检对于基因检测的效用有限。在所检测的有限数量乳腺癌样本中未发现-185delAG突变，并不排除该突变在该人群中的存在。需要进一步调查以确定该人群中临床相关的乳腺癌相关突变的程度。
