Rare Diseases Symptoms Automatic Extraction

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 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.

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