title: Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome.
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.
authors.affiliation: Department of Ophthalmology, Pomeranian Medical University (PUM), Szczecin, Poland ; International Hereditary Cancer Center, Department of Genetics, Pathology PUM, Szczecin, Poland.
authors.forename: Karol
authors.initials: K
authors.lastname: Krzystolik
authors.affiliation: International Hereditary Cancer Center, Department of Genetics, Pathology PUM, Szczecin, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Jakubowska
authors.affiliation: International Hereditary Cancer Center, Department of Genetics, Pathology PUM, Szczecin, Poland.
authors.forename: Jacek
authors.initials: J
authors.lastname: Gronwald
authors.affiliation: Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Maciej R
authors.initials: MR
authors.lastname: Krawczyński
authors.affiliation: Department of Ophthalmology, Pomeranian Medical University (PUM), Szczecin, Poland.
authors.forename: Monika
authors.initials: M
authors.lastname: Drobek-Słowik
authors.affiliation: Department of Neurosurgery, PUM, Szczecin, Poland.
authors.forename: Leszek
authors.initials: L
authors.lastname: Sagan
authors.affiliation: Department of Radiology, PUM, Szczecin, Poland.
authors.forename: Leszek
authors.initials: L
authors.lastname: Cyryłowski
authors.affiliation: Department of Ophthalmology, Pomeranian Medical University (PUM), Szczecin, Poland.
authors.forename: Wojciech
authors.initials: W
authors.lastname: Lubiński
authors.affiliation: International Hereditary Cancer Center, Department of Genetics, Pathology PUM, Szczecin, Poland.
authors.forename: Jan
authors.initials: J
authors.lastname: Lubiński
authors.affiliation: International Hereditary Cancer Center, Department of Genetics, Pathology PUM, Szczecin, Poland.
authors.forename: Cezary
authors.initials: C
authors.lastname: Cybulski
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