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Novel CDKN2A mutations detected in western Swedish families with hereditary malignant melanoma
Sahlgrens University Hospital, Sweden.
Sahlgrens University Hospital, Sweden.
Sahlgrens University Hospital, Sweden.
Sahlgrens University Hospital, Sweden.
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2007 (English)In: Journal of Investigative Dermatology, ISSN 0022-202X, E-ISSN 1523-1747, Vol. 127, no 6, 1465-1467 p.Article in journal (Refereed) PublishedText
Abstract [en]

We have examined alterations in the cyclin-dependent kinase inhibitor 2A (CDKN2A), a major melanoma predisposing gene, in a western-Swedish hereditary melanoma population comprising 107 patients from 68 families. Using sequence analysis and multiplex ligation-dependent probe amplification, we found a novel mutation (Asp108 Tyr), segregating with the disease in three families. This mutation has previously been detected as a somatic mutation in other cancers. We found a previously described Swedish founder mutation (ins113Arg) in one family and a large duplication encompassing the CDKN2A gene locus in another family. Moreover, a debated polymorphism (Ala148Thr) was found in nine families, in which the polymorphism did not segregate with the disease.

Place, publisher, year, edition, pages
NATURE PUBLISHING GROUP , 2007. Vol. 127, no 6, 1465-1467 p.
National Category
Cancer and Oncology
Identifiers
URN: urn:nbn:se:liu:diva-127513DOI: 10.1038/sj.jid.5700718ISI: 000246618300027PubMedID: 17255954OAI: oai:DiVA.org:liu-127513DiVA: diva2:924908
Available from: 2016-04-29 Created: 2016-04-29 Last updated: 2016-05-03

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Enerbäck, Charlotta
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