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

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 F...

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Detalles Bibliográficos
Autores principales: Krzystolik, Karol, Jakubowska, Anna, Gronwald, Jacek, Krawczyński, Maciej R, Drobek-Słowik, Monika, Sagan, Leszek, Cyryłowski, Leszek, Lubiński, Wojciech, Lubiński, Jan, Cybulski, Cezary
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4120008/
https://www.ncbi.nlm.nih.gov/pubmed/25093046
http://dx.doi.org/10.1186/1897-4287-12-16
Descripción
Sumario: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.