Vol 72, No 1 (2022)
Review paper
Published online: 2022-02-09

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Phacomatoses, genetic testing for personalisation of clinical management (part 2)

Anna Kofla-Dłubacz1, Andrzej Stawarski1, Tomasz Pytrus1, Justyna Gil2
Nowotwory. Journal of Oncology 2022;72(1):58-64.


Von Hippel-Lindau disease and tuberous sclerosis are rare genetic disorders, which belong to the group of phacomatoses. They involve an increased risk of development of multiple cancers, mostly benign ones, which may undergo malignant transformation. Genetic diagnostic including identification of the pathogenic variant of the VHL and TSC1 and TSC2 genes enables optimisation of patient care and identification of relatives who carry the mutation.

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Nowotwory. Journal of Oncology