Genetic screening of FFPE breast cancer biopsies for the BRCA1-185delAG mutation in Trinidad and Tobago

Bibliographic Data

ID14965433
AuthorsSheherazade Crystal Abrahim (Department of Life Sciences, Faculty of Science and Technology, The University of the West Indies, St. Augustine, Trinidad and Tobago., corresponding author), Dulari Bansraj (Department of Life Sciences, Faculty of Science and Technology, The University of the West Indies, St. Augustine, Trinidad and Tobago.), Robert J Edwards (0000-0002-4392-8998, University of the West Indies), Royanne Edwards (Department of Life Sciences, Faculty of Science and Technology, The University of the West Indies, St. Augustine, Trinidad and Tobago.), Reinand Thompson (0000-0002-5338-9262, Department of Para-Clinical Sciences, Faculty of Medical Sciences, The University of the West Indies, St. Augustine, Trinidad and Tobago.), Roma Rambaran (Department of Para-Clinical Sciences, Faculty of Medical Sciences, The University of the West Indies, St. Augustine, Trinidad and Tobago.), Allana Roach (Department of Para-Clinical Sciences, Faculty of Medical Sciences, The University of the West Indies, St. Augustine, Trinidad and Tobago.), Wayne A Warner (0000-0003-4534-183X, Oncology Division, Washington University School of Medicine, St. Louis, United States of America.), A V Chalapathi Rao (Department of Para-Clinical Sciences, Faculty of Medical Sciences, The University of the West Indies, St. Augustine, Trinidad and Tobago.), Chandrashekar Unakal (Department of Para-Clinical Sciences, Faculty of Medical Sciences, The University of the West Indies, St. Augustine, Trinidad and Tobago.), Chandrashekhar Unakal (0000-0002-4097-6871, University of the West Indies), Rajini Rani Haraksingh (Department of Life Sciences, Faculty of Science and Technology, The University of the West Indies, St. Augustine, Trinidad and Tobago.), Rajini Haraksingh (0000-0002-6644-8874, University of the West Indies)
Year2025
Volume49
Pages1
Publication date2025-05-20
Peer ReviewedYes
Open AccessYes
TypeARTICLE
VenueRevista Panamericana de Salud Pública (JOURNAL)
Journal identifiersISSN: 1020-4989 • E-ISSN: 1680-5348
PublisherPan American Health Organization (PUBLISHER • US)
DOI10.26633/rpsp.2025.52
PMID40395657
OpenAlexW4410511705
LanguageEN
References cited36

Objective. 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 (BRCA1) mutation, BRCA1-185delAG, in these samples. Methods. Genomic DNA was extracted from 67 FFPE samples using a standard protocol (Qiagen). Samples were genotyped using polymerase chain reaction (PCR) and Sanger sequencing. Results. 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 BRCA1-185delAG mutation. This mutation was not detected in the 34 samples. Conclusion. Existing FFPE cancer tissue biopsies in the public health system in T&T are of limited utility for genetic testing. The absence of the BRCA1-185delAG 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

Biology · Breast cancer · Cancer · Gene · Genetic testing · genomic DNA · Genotype · Mutation · Pathology · Polymerase chain reaction · Population · Sanger sequencing · BRCA gene mutations in cancer · Cancer Genomics and Diagnostics · Medicine · Genetics · Internal Medicine

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