CDKN2A Germline Mutations in Individuals with Cutaneous Malignant Melanoma
β Scribed by Orlow, Irene; Begg, Colin B; Cotignola, Javier; Roy, Pampa; Hummer, Amanda J; Clas, Brian A; Mujumdar, Urvi; Canchola, Rebecca; Armstrong, Bruce K; Kricker, Anne
- Book ID
- 110049764
- Publisher
- Nature Publishing Group
- Year
- 2007
- Tongue
- English
- Weight
- 187 KB
- Volume
- 127
- Category
- Article
- ISSN
- 0022-202X
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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
## Abstract __CDKN2A__ is a major susceptibility gene for cutaneous malignant melanoma (CMM), but the variable penetrance and clinical manifestations among mutation carriers suggest the existence of modifier factors. The goal of this study was to identify modifier genes for CMM in CMMβprone familie
## 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