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A novel L94Q mutation in the CDKN2A gene in a melanoma kindred

Avbelj, Magdalenaa; Hočevar, Markob; Trebušak-Podkrajšek, Katarinaa; Kržišnik, Cirila; Battelino, Tadeja


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 members. 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 BspMI. The penetrance of the novel mutation was shown to be incomplete. Functional importance of the mutation was assumed from the protein p16 structure.

aUniversity Medical Centre, University Children's Hospital, Ljubljana, Slovenia, and bInstitute of Oncology, Ljubljana, Slovenia.

Sponsorship: This work was supported by grants from the Ministry of Education, Science and Sport no. J3-3096 and no. J3-3464.

Correspondence and requests for reprints to Tadej Battelino, Associate Professor of Pediatrics, University Children's Hospital, Vrazov trg 1, SI-1000 Ljubljana, Slovenia. Tel: +386 1 522 92 70; fax: +386 1 522 93 57; e-mail:

Received 22 July 2003 Accepted 10 September 2003

© 2003 Lippincott Williams & Wilkins, Inc.