Molecular Genetics

The study of oncogenes such as K-ras and tumor suppressor genes such as CDKN2A (pl6) may, once their chemistry and function are further unraveled, be used advantageously for diagnosis, chemoprevention strategies, as well as for the development of new designer drugs that may enable more targeted chemotherapy. Pertinent questions are "What occurs when K-ras is activated?" and "What is lost when CDKN2A is inactivated?"

To date, there is no drug to treat PC that in any way is comparable, for example, to Imatinib (GleevecĀ®, Novartis, Basel, Switzerland) in treating gastrointestinal stromal tumors (GIST).24 GIST, like its PC counterpart, has a grave prognosis and occurs in certain families in accord with its autosomal dominant mode of inheritance,25 in which the germ line mutation in the KIT gene predisposes to GIST.26-28

Table 25.1 describes the extant heterogeneity of PC-prone syndromes and, when known, those germ line mutations that contribute to PC. Selected syndromes that integrally include PC are given further attention to serve as medical genetic examples.

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