Author/Editor		Avbelj, Magdalena; Hočevar, Marko; Trebušak-Podkrajšek, Katarina; Kržišnik, Ciril; Battelino, Tadej
Title		A novel L94Q mutation in the CDKN2A gene in a melanoma kindred
Type		članek
Source		Melanoma Res
Vol. and No.		Letnik 13, št. 6
Publication year		2003
Volume		str. 567-70
Language		eng
Abstract		About 10% of melanoma cases have clinical factors indicative of hereditary cancer. CDKN2A is a major melanoma susceptibility gene in familial malignant melanoma. In this study a novel L94Q missense mutation of the CDKN2A gene is described in a melanoma kindred with two affected second-degree family inembers. To detect the mutation, polymerase chain reaction (PCR) amplification methods and direct sequencing were used. The presence of the mutation was confirmed by restriction fragment length polymorphism analysis after digestion of the PCR amplicons with the restriction endonuclease BspMl. The penetrance of the novel mutation was shown to be incomplete. Functional importance of the mutation was assumed from the protein p16 structure.
Descriptors		MELANOMA SKIN NEOPLASMS CELL CYCLE PROTEINS GERM-LINE MUTATION POLYMERASE CHAIN REACTION POLYMORPHISM, RESTRICTION FRAGMENT LENGTH BASE SEQUENCE DNA PRIMERS HETEROZYGOTE