Familial And Hereditary Pancreatic Cancer Classification

Classification of familial and hereditary varieties of PC embody certain limitations wherein the diagnostic sine qua non is the presence of a cancer-causing germ line mutation, such as the cationic trypsinogen gene29,30 in hereditary pancreatitis.31,32 When PC segregates in a pattern consistent with an autosomal dominant mode of inheritance transmission, in an extended pedigree, it may become extremely informative to the diagnostician. PC may be associated with a variety of hereditary cancer-prone syndromes, as in Peutz-Jeghers syndrome (PJS) wherein the germ line mutation is STK11/LKB1 (Table 25.2) and in the familial atypical multiple mole melanoma (FAMMM) syndrome with the CDKN2A germ line mutation. Both FAMMM33 and PJS34 also harbor striking phenotypic cutaneous signs that, when coupled with known facts about their germ line mutations of note, will significantly aid in diagnosis and management.

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