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Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer

  1. Author:
    Yang, X. H. R.
    Jessop, L.
    Myers, T.
    Amundadottir, L.
    Pfeiffer, R. M.
    Wheeler, W.
    Pike, K. M.
    Yuenger, J.
    Burdett, L.
    Yeager, M.
    Chanock, S. J.
    Tucker, M. A.
    Goldstein, A. M.

  2. Author Address

    [Yang, Xiaohong R.; Jessop, Lea; Myers, Timothy; Amundadottir, Laufey; Pfeiffer, Ruth M.; Yuenger, Jeff; Burdett, Laurie; Yeager, Meredith; Chanock, Stephen J.; Tucker, Margaret A.; Goldstein, Alisa M.] NCI, Div Canc Epidemiol & Genet, NIH, DHHS, Bethesda, MD 20892 USA. [Myers, Timothy; Yuenger, Jeff; Burdett, Laurie; Yeager, Meredith] SAIC Frederick Inc, Core Genotyping Facil, NCI Frederick, Frederick, MD USA. [Wheeler, William] Informat Management Serv Inc, Rockville, MD USA. [Pike, Kristen M.] SAIC Frederick Inc, Lab Mol Technol, NCI Frederick, Frederick, MD USA.;Goldstein, AM (reprint author), Bldg EPS,Rm 7004,6120 Execut Blvd, Bethesda, MD 20892 USA;goldstea@mail.nih.gov
    1. Year: 2011
    2. Date: Sep
  2. Journal: Familial Cancer
    1. 10
    2. 3
    3. Pages: 545-548
  4. Type of Article: Article
  5. ISSN: 1389-9600
  1. Abstract:

    The presence of pancreatic cancer (PC) in melanoma-prone families has been consistently associated with an increased frequency of CDKN2A mutations, the major high-risk susceptibility gene identified for melanoma. However, the precise relationship between CDKN2A, melanoma and PC remains unknown. We evaluated a recently identified PC susceptibility gene PALB2 using both sequencing and tagging to determine whether PALB2 might explain part of the relationship between CDKN2A, melanoma, and PC. No disease-related mutations were identified from sequencing PALB2 in multiple pancreatic cancer patients or other mutation carrier relatives of PC patients from the eight melanoma-prone families with CDKN2A mutations and PC. In addition, no significant associations were observed between 11 PALB2 tagging SNPs and melanoma risk in 23 melanoma-prone families with CDKN2A mutations or the subset of 11 families with PC or PC-related CDKN2A mutations. The results suggested that PALB2 does not explain the relationship between CDKN2A, melanoma, and pancreatic cancer in these melanoma-prone families.

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External Sources

  1. View Full Text
  2. DOI: 10.1007/s10689-011-9447-9
  3. View record in Web of Science®
  4. WOS: 000301507400018

Library Notes

  1. Fiscal Year: FY2011-2012
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