Hallmarks of Hereditary Cancers

A list of known inherited cancer syndromes and their associated genes is shown in Table 25.1.3 This chapter discusses in more detail the hereditary patterns of breast/ovarian cancer, colorectal cancer, and multiple endocrine neoplasias, syndromes for which there are clinically available tests and which comprise a large portion of all hereditary cancer syndromes.

The features of a pedigree that characterize hereditary patterns of cancer include early age of onset, high penetrance, bilaterality in paired organs, vertical transmission through either parent, and an association with other cancers.4 The actual prevalence of mutations leading to hereditary cancers varies considerably in the population and is sometimes related to ethnic ancestry. It is known that certain mutations, the "founder mutations," are more common in families who are all traced to a certain ancestor believed to be the founder of the original mutation. In these cases, knowing the ethnicity of an individual may guide which mutations to explore.

Penetrance refers to the proportion of individuals carrying the mutation who actually develop the associated disease(s). The observation that there are mutation carriers who never develop disease suggests that there are genetic, metabolic, and/or environmental events that can modify the effect of a mutation. A better understanding of these modifiers is likely to provide opportunities for prevention of the involved disease. There are also emerging data to suggest that the location of the mutation within the gene may influence the type and severity of the disease that is manifest.

10 Ways To Fight Off Cancer

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