Article
Classification of germline variants identified in cancer predisposition genetic testing - consensus of the CZECANCA consortium.
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti - 1 Jan 2023
Janatová M, Chvojka Š, Macháčková E, Soukupová J, Zemánková P, Nehasil P, Zavoral T, Hrušková L, Janíková K M Kozáková, Lhota F, Tavandzis S, Kleiblová P, Kleibl Z, Konzorcium Czecanca
Abstract excerpt
BACKGROUND: Hereditary cancer syndromes are an important subset of malignant cancers caused by pathogenic variants in one of many known cancer predisposition genes. Diagnosis of cancer predisposition is based on genetic testing using next-generation sequencing. This allows many genes to be analysed at once, increasing the number of variants identified. The correct classification of the variants found is essential...
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