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Hereditary Cancer in Clinical Practice
Published in: Hereditary Cancer in Clinical Practice 1/2014

Open Access 01-12-2014 | Research

Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome

Authors: Karol Krzystolik, Anna Jakubowska, Jacek Gronwald, Maciej R Krawczyński, Monika Drobek-Słowik, Leszek Sagan, Leszek Cyryłowski, Wojciech Lubiński, Jan Lubiński, Cezary Cybulski

Published in: Hereditary Cancer in Clinical Practice | Issue 1/2014

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Abstract

Patients with intragenic mutations of the VHL gene have a typical disease presentation. However in cases of large VHL gene deletions which involve other genes in the proximity of the VHL gene a presentation of the disease can be different.
To investigate whether large VHL deletions that remove the FANCD2 gene have an effect on the disease phenotype, we studied a family with a 50 kb large deletion encompassing these two genes. Four patients in this family were affected by VHL-related lesions. However one carrier of the deletion also had bilateral ductal breast cancer at age 46 and 49. Both tumors were of ~2 cm in diameter. On one side lymph nodes were affected. One tumor was ER- and PR-negative (HER2 s unknown) and the second was ER- and PR-positive, and HER2-negative.
Our study suggests that a deletion of FANCD2 gene, an important gene in the DNA repair pathway, may be associated with an increased risk of breast cancer, but further studies are needed in this regard.
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Metadata
Title
Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome
Authors
Karol Krzystolik
Anna Jakubowska
Jacek Gronwald
Maciej R Krawczyński
Monika Drobek-Słowik
Leszek Sagan
Leszek Cyryłowski
Wojciech Lubiński
Jan Lubiński
Cezary Cybulski
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Hereditary Cancer in Clinical Practice / Issue 1/2014
Electronic ISSN: 1897-4287
DOI
https://doi.org/10.1186/1897-4287-12-16

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