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Rigshospitalet - a part of Copenhagen University Hospital
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Germline RAD51B truncating mutation in a family with cutaneous melanoma

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  1. Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

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  2. Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome

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  3. BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population

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  4. Germline TERT promoter mutations are rare in familial melanoma

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  1. Danish guidelines for management of non-APC-associated hereditary polyposis syndromes

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  2. Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

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Known melanoma predisposition genes only account for around 40% of high-density melanoma families. Other rare mutations are likely to play a role in melanoma predisposition. RAD51B plays an important role in DNA repair through homologous recombination, and inactivation of RAD51B has been implicated in tumorigenesis. Thus RAD51B is a good candidate melanoma susceptibility gene, and previously, a germline splicing mutation in RAD51B has been identified in a family with early-onset breast cancer. In order to find genetic variants associated with melanoma predisposition, whole-exome sequencing was carried out on blood samples from a three-case cutaneous melanoma family. We identified a novel germline RAD51B nonsense mutation, and we demonstrate reduced expression of RAD51B in melanoma cells indicating inactivation of RAD51B. This is only the second report of a germline truncating RAD51B mutation. While this case report is consistent with melanoma being part of the RAD51B cancer spectrum further population-based screening of large case-control sample series will be needed to definitively establish if this is the case.

Original languageEnglish
JournalFamilial Cancer
Volume14
Issue number2
Pages (from-to)337-40
Number of pages4
ISSN1389-9600
DOIs
Publication statusPublished - Jun 2015

ID: 45844444