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The Role of Germlin...
The Role of Germline Alterations in the DNA Damage Response Genes BRIP1 and BRCA2 in Melanoma Susceptibility
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- Tuominen, Rainer (author)
- Karolinska Institutet
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- Engstrom, Pär G. (author)
- Stockholms universitet,Institutionen för biokemi och biofysik
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- Helgadottir, Hildur (author)
- Karolinska Institutet
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Eriksson, Hanna (author)
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- Unneberg, Per (author)
- Stockholms universitet,Institutionen för biokemi och biofysik
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- Kjellqvist, Sanela (author)
- Stockholms universitet,Institutionen för biokemi och biofysik
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Yang, Muyi (author)
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Linden, Diana (author)
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- Edsgärd, Daniel (author)
- KTH,Genteknologi,Science for Life Laboratory, SciLifeLab
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- Hansson, Johan (author)
- Karolinska Institutet
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- Hoiom, Veronica (author)
- Karolinska Institutet
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(creator_code:org_t)
- 2016-05-02
- 2016
- English.
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In: Genes, Chromosomes and Cancer. - : Wiley-Blackwell. - 1045-2257 .- 1098-2264. ; 55:7, s. 601-611
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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Abstract
Subject headings
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- We applied a targeted sequencing approach to identify germline mutations conferring a moderately to highly increased risk of cutaneous and uveal melanoma. Ninety-two high-risk melanoma patients were screened for inherited variation in 120 melanoma candidate genes. Observed gene variants were filtered based on frequency in reference populations, cosegregation with melanoma in families and predicted functional effect. Several novel or rare genetic variants in genes involved in DNA damage response, cell-cycle regulation and transcriptional control were identified in melanoma patients. Among identified genetic alterations was an extremely rare variant (minor allele frequency of 0.00008) in the BRIP1 gene that was found to cosegregate with the melanoma phenotype. We also found a rare nonsense variant in the BRCA2 gene (rs11571833), previously associated with cancer susceptibility but not with melanoma, which showed weak association with melanoma susceptibility in the Swedish population. Our results add to the growing knowledge about genetic factors associated with melanoma susceptibility and also emphasize the role of DNA damage response as an important factor in melanoma etiology.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- NATURVETENSKAP -- Biologi -- Bioinformatik och systembiologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Bioinformatics and Systems Biology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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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Tuominen, Rainer
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Engstrom, Pär G.
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Helgadottir, Hil ...
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Eriksson, Hanna
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Unneberg, Per
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Kjellqvist, Sane ...
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show more...
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Yang, Muyi
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Linden, Diana
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Edsgärd, Daniel
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Hansson, Johan
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Hoiom, Veronica
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show less...
- About the subject
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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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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Bioinformatics a ...
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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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Stockholm University
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Karolinska Institutet