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Hereditary uveal melanoma: A report of a germline mutation in BAP1
KTH, School of Biotechnology (BIO), Gene Technology. KTH, Centres, Science for Life Laboratory, SciLifeLab.
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2013 (English)In: Genes, Chromosomes and Cancer, ISSN 1045-2257, E-ISSN 1098-2264, Vol. 52, no 4, 378-384 p.Article in journal (Refereed) Published
Abstract [en]

Melanoma of the eye is a rare and distinct subtype of melanoma, which only rarely are familial. However, cases of uveal melanoma (UM) have been found in families with mixed cancer syndromes. Here, we describe a comprehensive search for inherited genetic variation in a family with multiple cases of UM but no aggregation of other cancer diagnoses. The proband is a woman diagnosed with UM at 16 years who within 6 months developed liver metastases. We also identified two older paternal relatives of the proband who had died from UM. We performed exome sequencing of germline DNA from members of the affected family. Exome-wide analysis identified a novel loss-of-function mutation in the BAP1 gene, previously suggested as a tumor suppressor. The mutation segregated with the UM phenotype in this family, and we detected a loss of the wild-type allele in the UM tumor of the proband, strongly supporting a causative association with UM. Screening of BAP1 germline mutations in families predisposed for UM may be used to identify individuals at increased risk of disease. Such individuals may then be enrolled in preventive programs and regular screenings to facilitate early detection and thereby improve prognosis.

Place, publisher, year, edition, pages
2013. Vol. 52, no 4, 378-384 p.
Keyword [en]
Human-Malignant Mesothelioma, Tumor-Suppressor, Ocular Melanoma, Chromosome-3, Predispose, Deletion
National Category
Medical and Health Sciences Biological Sciences
URN: urn:nbn:se:kth:diva-119719DOI: 10.1002/gcc.22035ISI: 000314981600004ScopusID: 2-s2.0-84873725170OAI: diva2:612767
Swedish Research CouncilScience for Life Laboratory - a national resource center for high-throughput molecular bioscience

QC 20130325

Available from: 2013-03-25 Created: 2013-03-21 Last updated: 2013-03-25Bibliographically approved

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Edsgärd, DanielLundeberg, JoakimEmanuelsson, Olof
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