Familial melanoma; CDKN2A and beyond

Citation
Na. Gruis et al., Familial melanoma; CDKN2A and beyond, J INV D SYM, 4(1), 1999, pp. 50-54
Citations number
63
Categorie Soggetti
Dermatology
Journal title
JOURNAL OF INVESTIGATIVE DERMATOLOGY SYMPOSIUM PROCEEDINGS
ISSN journal
10870024 → ACNP
Volume
4
Issue
1
Year of publication
1999
Pages
50 - 54
Database
ISI
SICI code
1087-0024(199909)4:1<50:FMCAB>2.0.ZU;2-Q
Abstract
The most common hereditary melanoma susceptibility disorder is the familial atypical multiple mole-melanoma (FAMMM) syndrome. FAMMM is regarded as an ideal natural model to study the very complex pathologic mechanism of melan oma. In 1994, cloning of the melanoma susceptibility gene CDKN2A was though t to give answers to many questions on genotype-phenotype correlations in f amilial melanoma. Today, 4 y later, germline mutations cosegregate with mel anoma in only 40%-50% of the families predisposed to this disease. The hunt for genes and modifying genes is on again. Through the years the very well -characterized Dutch FAMMM families have proven to be valuable study subjec ts in melanoma research. This paper describes over 10 y of melanoma researc h illustrated by research performed in the Dutch FAMMM families.