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    Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma.

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    Authors
    Jafri, Mariam
    Wake, Naomi C
    Ascher, David B
    Pires, Douglas E V
    Gentle, Dean
    Morris, Mark R.
    Rattenberry, Eleanor
    Simpson, Michael A
    Trembath, Richard C
    Weber, Astrid
    Woodward, Emma R
    Donaldson, Alan
    Blundell, Tom L
    Latif, Farida
    Maher, Eamonn R
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    Issue Date
    2015-04-14
    
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    Abstract
    Familial renal cell carcinoma (RCC) is genetically heterogeneous and may be caused by mutations in multiple genes, including VHL, MET, SDHB, FH, FLCN, PTEN, and BAP1. However, most individuals with inherited RCC do not have a detectable germline mutation. To identify novel inherited RCC genes, we undertook exome resequencing studies in a familial RCC kindred and identified a CDKN2B nonsense mutation that segregated with familial RCC status. Targeted resequencing of CDKN2B in individuals (n = 82) with features of inherited RCC then revealed three candidate CDKN2B missense mutations (p.Pro40Thr, p.Ala23Glu, and p.Asp86Asn). In silico analysis of the three-dimensional structures indicated that each missense substitution was likely pathogenic through reduced stability of the mutant or reduced affinity for cyclin-dependent kinases 4 and 6, and in vitro studies demonstrated that each of the mutations impaired CDKN2B-induced suppression of proliferation in an RCC cell line. These findings identify germline CDKN2B mutations as a novel cause of familial RCC.
    Citation
    Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma. 2015, 5 (7):723-9 Cancer Discov
    Publisher
    American Association for Cancer Research
    Journal
    Cancer discovery
    URI
    http://hdl.handle.net/2436/620219
    DOI
    10.1158/2159-8290.CD-14-1096
    PubMed ID
    25873077
    Type
    Journal article
    Language
    en
    ISSN
    2159-8290
    2159-8274
    ae974a485f413a2113503eed53cd6c53
    10.1158/2159-8290.CD-14-1096
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