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Hereditary uveal me...
Hereditary uveal melanoma : A report of a germline mutation in BAP1
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- Höiom, Veronica (author)
- Karolinska Institutet
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- Edsgärd, Daniel (author)
- KTH,Genteknologi,Science for Life Laboratory, SciLifeLab
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- Helgadottir, Hildur (author)
- Karolinska Institutet
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Eriksson, Hanna (author)
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- All-Ericsson, Charlotta (author)
- Karolinska Institutet
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- Tuominen, Rainer (author)
- Karolinska Institutet
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Ivanova, Ivayla (author)
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- Lundeberg, Joakim (author)
- KTH,Genteknologi,Science for Life Laboratory, SciLifeLab
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- Emanuelsson, Olof (author)
- KTH,Genteknologi,Science for Life Laboratory, SciLifeLab
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- Hansson, Johan (author)
- Karolinska Institutet
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(creator_code:org_t)
- 2013-01-23
- 2013
- English.
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In: Genes, Chromosomes and Cancer. - : Wiley. - 1045-2257 .- 1098-2264. ; 52:4, s. 378-384
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Subject headings
- NATURVETENSKAP -- Biologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Human-Malignant Mesothelioma
- Tumor-Suppressor
- Ocular Melanoma
- Chromosome-3
- Predispose
- Deletion
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Höiom, Veronica
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Edsgärd, Daniel
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Helgadottir, Hil ...
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Eriksson, Hanna
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All-Ericsson, Ch ...
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Tuominen, Rainer
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show more...
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Ivanova, Ivayla
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Lundeberg, Joaki ...
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Emanuelsson, Olo ...
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Hansson, Johan
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show less...
- About the subject
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Ophthalmology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Genes, Chromosom ...
- By the university
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Royal Institute of Technology
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Karolinska Institutet