Familial cutaneous melanoma and two-mutational-event modeling

Familial melanoma

Familial melanoma.

Approximately 5% to 10% of cases of cutaneous melanoma occur in families that have a hereditary predisposition for this disease. In 20% to 40% of such melanoma families, germline mutations in the CDKN2A gene have been identified. Apart from a high risk of melanoma, a proportion of kindreds that have familial melanoma also have an increased risk of pancreatic carcinoma. Guidelines for management...

Cutaneous melanoma.

In the past decade, major advances have been made in the understanding of melanoma. New predisposition genes have been reported and key somatic events, such as BRAF mutation, directly translated into therapeutic management. Surgery for localised melanoma and regional lymph node metastases is the standard of care. Sentinel-node biopsy provides precise staging, but has not been reported to affect...

Genetics of Uveal Melanoma and Cutaneous Melanoma: Two of a Kind?

Cutaneous melanoma and uveal melanoma both derive from melanocytes but show remarkable differences in tumorigenesis, mode of metastatic spread, genetic alterations, and therapeutic response. In this review we discuss the differences and similarities along with the genetic research techniques available and the contribution to our current understanding of melanoma. The several chromosomal aberrat...

Cutaneous Melanoma and Telomerase Celestino

There are cells that suffer uncontrolled growth with loss of contact inhibition and alterations in the nucleus, affecting the maintenance of telomeres in the chromosomes, forming a tumor. Telomeres have a tendency to merge, making repairs of DNA impracticable, taking the loss of genetic information and producing chromosomal aberrations. In relation to telomeres, there is a protein known as telo...