title: Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer.
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.
authors: Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, DHHS, Bethesda, MD, USA.
authors: Xiaohong R
authors: XR
authors: Yang
authors: Lea
authors: L
authors: Jessop
authors: Timothy
authors: T
authors: Myers
authors: Laufey
authors: L
authors: Amundadottir
authors: Ruth M
authors: RM
authors: Pfeiffer
authors: William
authors: W
authors: Wheeler
authors: Kristen M
authors: KM
authors: Pike
authors: Jeff
authors: J
authors: Yuenger
authors: Laurie
authors: L
authors: Burdett
authors: Meredith
authors: M
authors: Yeager
authors: Stephen J
authors: SJ
authors: Chanock
authors: Margaret A
authors: MA
authors: Tucker
authors: Alisa M
authors: AM
authors: Goldstein
references: Science. 2009 Apr 10;324(5924):217
references: 19264984
references: Genet Epidemiol. 2003 Dec;25(4):360-6
references: 14639705
references: Cancer Res. 2006 Oct 15;66(20):9818-28
references: 17047042
references: Cancer Epidemiol Biomarkers Prev. 2005 Sep;14(9):2208-12
references: 16172233
references: J Natl Cancer Inst. 1999 Aug 4;91(15):1310-6
references: 10433620
references: Hum Mutat. 2004 Jun;23(6):630
references: 15146471
references: Genet Epidemiol. 2003 Jan;24(1):14-23
references: 12508252
references: J Med Genet. 2011 Aug;48(8):523-5
references: 21415078
references: Fam Cancer. 2011 Jun;10(2):315-7
references: 21153565
references: Oncogene. 2003 May 19;22(20):3053-62
references: 12789280
references: Fam Cancer. 2011 Jun;10(2):225-31
references: 21365267
references: J Natl Cancer Inst. 2000 Jun 21;92(12):1006-10
references: 10861313
references: Mol Cell. 2006 Jun 23;22(6):719-729
references: 16793542
references: J Med Genet. 2007 Feb;44(2):99-106
references: 16905682
references: Am J Hum Genet. 2004 Jan;74(1):106-20
references: 14681826