J Gynecol Oncol | Volume 3, Issue 2 | Review Article | Open Access
Prabhavi W*, Wetthasinghe K and Dissanayake VHW
Department of Human Genetics, University of Colombo, Sri Lanka
*Correspondance to: Prabhavi Wijesiriwardhana
Fulltext PDFThe precise identification of pathogenic germline variants in cancer predisposing genes is crucial for genetic screening and management of hereditary cancer syndromes. Next Generation Sequencing is now the gold standard test, currently in practice globally to identify these germline variants. However, large genomic rearrangements in cancer predisposing genes are usually missed by Next Generation Sequencing; hence they do not get reported in some patients. This may lead to underestimation of the frequency of the variants and lead to false-negative information, misleading the genetic diagnosis and early interventions in high risk individuals. These large genomic rearrangements have been characterized in several populations. The identification of variants in cancer predisposing genes for specific types of cancers provides the necessary information for the complete characterization of inherited cancer syndromes. The inclusion of tests for detection of large structural variants to diagnostic panels should be encouraged.
Cancer predisposing genes; Proband; Hereditary cancer; Next-Generation Sequencing; Large structural variants; Single nucleotide variants
Prabhavi W, Wetthasinghe K, Dissanayake VHW. The Importance of the Detection of Large Genomic Rearrangements Predisposing Hereditary Cancer Syndromes: A Systematic Review. J Gynecol Oncol. 2020; 3(2): 1031.