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Title: Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer.
Authors: Yang XR,  Jessop L,  Myers T,  Amundadottir L,  Pfeiffer RM,  Wheeler W,  Pike KM,  Yuenger J,  Burdett L,  Yeager M,  Chanock SJ,  Tucker MA,  Goldstein AM
Journal: Fam Cancer
Date: 2011 Sep
Branches: BB, CGR, GEB, HGP, LTG, OD
PubMed ID: 21614589
PMC ID: PMC3244023
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.