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The application of next-generation sequencing (NGS) technology in the genetic investigation of hereditary cancer is important for clinical surveillance, therapeutic approach, and reducing the risk of developing new malignancies.
The study aimed to explore genetic predisposition in individuals referred for hereditary cancer.
A total of 8,261 individuals were referred for multigene genetic testing, during the period 2020-2023, in the laboratory, and underwent multigene genetic testing using NGS. Among the examined individuals, 56.17% were diagnosed with breast cancer, 6.77% with ovarian cancer, 2.88% with colorectal cancer, 1.91% with prostate cancer, 6.43% were healthy with a significant family history of cancer, while 3.06% had a different type of cancer and 0.21% had not provided any information. Additionally, in 85 women with breast cancer, we performed whole exome sequencing analysis.
20% of the examined individuals carried a pathogenic variant. Specifically, 54.8% of the patients had a pathogenic variant in a clinically significant gene (BRCA1, BRCA2, PALB2, RAD51C, PMS2, CDKN2A, MLH1, MSH2, TP53, MSH6, APC, RAD51D, PTEN, RET, CDH1, MEN1, and VHL). Among the different types of pathogenic variants detected, a significant percentage (6.52%) represented copy number variation (CNV). Conclusion: Comprehensive multigene genetic testing is necessary for appropriate clinical management of pathogenic variants’ carriers. Additionally, the information obtained is important for determining the risk of malignancy development in family members of the examined individuals.
This study marks a significant milestone as the most comprehensive research undertaken by a single clinical diagnostic facility in Greece, encompassing the examination of over 8,000 individuals for hereditary cancer utilizing NGS technology since 2015 . The insights gleaned from this investigation hold transformative potential for healthcare providers, enabling them to customize patient care strategies based on the intricate nuances of genetic makeup rather than solely relying on traditional personal and family medical histories.
Notably, the identification of PVs across multiple genes can offer invaluable insights into the complex array of tumor types observed within certain families, shedding light on potential genetic predispositions, and informing targeted treatment approaches.
However, while these initial findings are promising, further research endeavors are imperative to consolidate and expand upon these discoveries. Future studies, encompassing a larger cohort of families and employing advanced WES techniques, are warranted to validate and build upon the initial findings, ultimately paving the way for more precise and personalized approaches to cancer management and prevention.
Read the full study here: https://genekor.com/wp-content/uploads/2024/09/cgp-21-448.pdf
