The Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory.
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Tsoulos Nikolaos, Agiannitopoulos Konstantinos, Potska Kevisa, Katseli Anastasia, Ntogka Christina, Pepe Georgia, Bouzarelou Dimitra, Papathanasiou Athanasios, Grigoriadis Dimitrios, Tsaousis Georgios N, Gogas Helen, Troupis Theodore, Papazisis Konstantinos, Natsiopoulos Ioannis, Venizelos Vassileios, Amarantidis Kyriakos, Giassas Stylianos, Papadimitriou Christos, Fountzilas Elena, Stathoulopoulou Maroulio, Koumarianou Anna, Xepapadakis Grigorios, Blidaru Alexandru, Zob Daniela, Voinea Oana, Özdoğan Mustafa, Ergören Mahmut Çerkez, Hegmane Alinta, Papadopoulou Eirini, Nasioulas George, Markopoulos Christos
Аннотация
MATERIALS AND METHODS: 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.
RESULTS: 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). With WES analysis, the following findings were detected: CTC1: c.880C>T, p.(Gln294*); MLH3: c.405del, p.(Asp136Metfs*2), PPM1D: c.1426_1430del, p.(Glu476Leufs*3), and SDHB: c.395A>G, p.(His132Arg).
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.