Cancer of the kidney constitutes about 2% of all human cancers, and renal cell carcinoma comprises...

Cancer of the kidney constitutes about 2% of all human cancers, and renal cell carcinoma comprises about 85% of all kidney cancers. Although the etiology is largely unknown, a quick review of the literature reveals nearly 30 case reports of familial aggregates. Can one conclude that renal cell carcinoma is hereditary?

Expert Solution

Most renal cell carcinoma is sporadic, but unusual forms of autosomal dominant familial cancers occur, usually in younger individuals. They account for only 4% of RCC.

Although only a small portion of the cases of RCC (Renal cell carcinoma) are attributed to genetic factors, the risk of its development is greater than twofold when there is a first degree relative with the disease. These hereditary kidney cancers are the sources of knowledge regarding RCC.

Types of Hereditary Renal cell carcinoma are:

60% of all patients with VHL( Von hippel Lindsay syndrome) develop renal cysts and bilateral, often multiple, renal cell carcinomas.

Hereditary leiomyomatosis caused by mutations of FH gene, which expresses fumarate hydratase is an aggressive type of papillary renal cell carcinoma.

Hereditary papillary carcinoma : This autosomal dominant form (AD) with bilateral papillary tumours has mutation in MET proto oncogene.

Birt Hogg five syndrome: AD pattern with mutation in BHD gene, expressing folliculin.

Nightingale answered 2 years ago

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