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- Title
Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome.
- Authors
Krzystolik, Karol; Jakubowska, Anna; Gronwald, Jacek; Krawczyñski, Maciej R.; Drobek-Słowik, Monika; Sagan, Leszek; Cyryłowski, Leszek; Lubiñski, Wojciech; Lubiñski, Jan; Cybulski, Cezary
- 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.
- Subjects
VON Hippel-Lindau disease; GENETICS of breast cancer; BREAST cancer patients; GENETIC mutation; DNA repair; BREAST cancer risk factors
- Publication
Hereditary Cancer in Clinical Practice, 2014, Vol 12, Issue 1, p1
- ISSN
1731-2302
- Publication type
Article
- DOI
10.1186/1897-4287-12-16