open access

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.
Affiliations
  1. 2nd Department of Paediatrics, Gastroenterology and Nutrition, Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland
  2. Department of Genetics, Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland

open access

Vol 72, No 1 (2022)
Genetics and oncology
Published online: 2022-02-09

Abstract

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.

Abstract

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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Keywords

von Hippel-Lindau disease; VHL; tuberous sclerosis; sclerosis tuberosa complex; TSC; phacomatosis

About this article
Title

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

Journal

Nowotwory. Journal of Oncology

Issue

Vol 72, No 1 (2022)

Article type

Review paper

Pages

58-64

Published online

2022-02-09

Page views

5219

Article views/downloads

213

DOI

10.5603/NJO.2022.0007

Bibliographic record

Nowotwory. Journal of Oncology 2022;72(1):58-64.

Keywords

von Hippel-Lindau disease
VHL
tuberous sclerosis
sclerosis tuberosa complex
TSC
phacomatosis

Authors

Anna Kofla-Dłubacz
Andrzej Stawarski
Tomasz Pytrus
Justyna Gil

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