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Female CHEK2c.1100delC heterozygotes are eligible for additional breast surveillance because of an increased breast cancer risk. Increased risks for other cancers have been reported. We studied whether CHEK2c.1100delC is associated with an increased risk for other cancers within these families.

Von Hippel-Lindau (VHL) disease is an autosomal, dominant inherited tumour syndrome with an estimated prevalence of 2–3 per 100,000 persons. A germline mutation in the VHL gene predisposes carriers to tumours in multiple organs. These tumours may include haemangioblastoma in the retina and central nervous system (CNS), renal cell carcinoma, phaeochromocytoma, islet cell tumours of the pancreas, and endolymphatic sac tumours, as well as cysts and cystadenoma in the kidney, pancreas, epididymis and broad ligament. Penetrance of VHL disease is high, most carriers of a VHL germline mutation develop one or more tumours by the age of 60 years. The most common symptoms include: loss of vision, raised intracranial pressure, neurological deficits, paroxysmal raised blood pressure and local pain. At present, metastases from renal cell carcinoma and neurological complications from cerebellar haemangioblastoma are the most common causes of death. However, it is anticipated that intensive radiological and clinical monitoring, and advanced operation techniques will reduce both morbidity and mortality in patients with VHL disease.

Von Hippel-Lindau (VHL) disease is an autosomal, dominantly inherited tumour syndrome. Carriers of a germline mutation in the VHL tumour suppressor gene tumours are predisposed to develop tumours that are multicentric or bilateral, and manifest at a younger age than in situations without a VHL germline mutation. The mutation spectrum is heterogeneous, with mutations scattered throughout most of the VHL gene. Although some recurrent mutations have been reported, most families have their own unique germline mutation. Tested individuals are no longer uncertain regarding their risk for developing the disease and family members who are non-carriers are relieved of the burden of repeated clinical monitoring.