Keywords: Von-Hippel-Lindau disease; VHL tumour suppressor gene; haemangioblastoma; presymptomatic diagnosis; identical twins
Springer Online Journal Archives 1860-2000
p53 , BRCA1, BRCA2, DCC, and MCC). Furthermore, no mutations were found in the constitutional DNA of either twin sister or in the DNA of all five tumour lesions. Based on our observations, we conclude that in certain VHL families, presymptomatic molecular diagnosis of the disease is not feasible and requires close clinical surveillance of all individuals at risk.
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