Germline CDKN2A mutations have been observed in approximately 20 percent of familial melanoma kindreds from North America, Europe and Australasia. There is also an increased risk of pancreatic cancer in a subset of families with mutations, however, the precise relationship between the CDKN2A gene an
Germline splicing mutations of CDKN2A predispose to melanoma
β Scribed by Loo, Joanne C Y; Liu, Ling; Hao, AiHua; Gao, LuZhuang; Agatep, Ron; Shennan, Michael; Summers, Anne; Goldstein, Alisa M; Tucker, Margaret A; Deters, Carolyn
- Book ID
- 110067827
- Publisher
- Nature Publishing Group
- Year
- 2003
- Tongue
- English
- Weight
- 182 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0950-9232
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## Abstract Multiple primary cancers are one of the hallmarks of inherited predisposition. Outside the familial context, multiple primary tumors could be related either to germline de novo mutations or to lowβpenetrance mutations, in predisposing genes. We selected 100 patients who displayed multip
Germline mutations of the CDKN2A tumor suppressor gene have been identified in melanoma kindreds linked to 9p21, and pancreatic adenocarcinoma is the second most common malignancy in some of these families. We hypothesized that unselected patients with both primary cancers, i.e., pancreatic cancer a