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

[von hippel-lindau disease]

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 FANCD 2 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 (HER 2 s unknown ) and the second was ER- and PR-positive , and HER 2 -negative . Our study suggests that a deletion of FANCD 2 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 .

Diseases
Validation

Diseases presenting "breast cancer" symptom

acute rheumatic fever

aromatase deficiency

carcinoma of the gallbladder

child syndrome

cowden syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

esophageal squamous cell carcinoma

junctional epidermolysis bullosa

kindler syndrome

liposarcoma

lymphangioleiomyomatosis

oral submucous fibrosis

proteus syndrome

severe combined immunodeficiency

systemic capillary leak syndrome

von hippel-lindau disease

waldenström macroglobulinemia

werner syndrome

wiskott-aldrich syndrome

This symptom has already been validated