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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Germline RAD51B truncating mutation in a family with cutaneous melanoma

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Risk of multiple colorectal cancer development depends on age and subgroup in individuals with hereditary predisposition

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  2. Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing

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

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  5. No evidence of increased breast cancer risk for proven noncarriers from BRCA1 and BRCA2 families

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. The molecular profile of mucosal melanoma

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Breast cancer survival in Nordic BRCA2 mutation carriers-unconventional association with oestrogen receptor status

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftFamilial Cancer
Vol/bind14
Udgave nummer2
Sider (fra-til)337-40
Antal sider4
ISSN1389-9600
DOI
StatusUdgivet - jun. 2015

ID: 45844444