Publications Search - Abstract View
||Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer.
||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
||BB, CGR, GEB, HGP, LTG, OD
||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.