Thursday, May 17, 2012

Hereditary Cancer Risk Assessment Basics

The goal of most hereditary cancer programs is to provide individual risk assessment that can be incorporated into the patient’s ongoing medical care. The programs usually evaluates families with multiple members with cancer (of the same or different type) for the purpose of assessing the likelihood of a hereditary cancer syndrome. Patients are usually referred by their physician based upon their personal medical and/or family histories.

Often several sessions are required. The initial session includes a review of the patient’s medical history as well as three generational family history. The counselor will review this information within the context of risk for a hereditary cancer syndrome. The benefits, risks and limitations of testing will be described in detail. Often testing options can be offered at an initial visit. However, sometimes it is necessary to collect medical records on affected family members in order to understand the risk that exists for the patient and family. 

Genetic testing will then be offered if appropriate. If the patient decides to proceed with testing a final appointment is scheduled to review the results in person. This visit includes interpretation of the results a discussion of how this information affects medical management and the impact on the extended family. 

Some important factors that would indicate this type of evaluation include:

  • Cancer that developed at an early age, usually less than 50.
  • Individuals with rare cancer i.e. male breast cancer.
  • More than one primary cancer in an affected individual.
  • Other physical signs such as colon polyps, moles, desmoids tumors, thyroid nodules, and fatty tumors.
  • Different cancers in a family that are known to be genetically related such as breast and ovarian cancers.
  • Several generations in the family affected by cancer.
  • Clustering of cancers that are known to be genetically related (such as breast and ovarian, colon and uterine and breast and thyroid).
  • Breast or ovarian cancer and Ashkenazi (eastern European) Jewish ancestry.
  • An identified genetic mutation in the family.
  • Known cancer syndrome in the family (for example Lynch syndrome, Cowden syndrome, MEN and others).

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