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Forum Name: Brain Tumors

Question: Li-Fraumeni Syndrome


 Liz716 - Fri Feb 28, 2003 7:43 pm

I was just wondering if Li-Fraumeni Syndrome could occur only in one sex of the family and possibly skip a generation? My grandfather passed away from a brain tumor, my cousin did as well, and my brother was diagnosed with one six years ago.
 Dr. Jeffrey Gordon - Thu May 08, 2003 10:12 am

My apologies for the delay in answering your question.

The Li-Fraumeni syndrome is one of many discovered hereditary cancer syndromes. It does not define just one type of cancer, but a cluster of various cancers seen together or in a family. Just because one family member has the Li-Fraumeni syndrome does not imply that all family members will have it or develop a cancer. It does increase the likelihood that family members will have the syndrome, however. Furthermore, many cancers are common, especially in an aging population. So-called "family" histories of cancers are not true hereditary syndromes, but rather the presence of common cancers in different family members at risk for such common cancers.

Physicians should maintain a clinical concern for hereditary cancer syndromes in the appropriate context. There are genetic tests that can be done to evaluate the Li-Fraumeni syndrome. Such tests should be done only at reputable cancer genetic centers, where counseling about the test can be undertaken and reliable results obtained. No cancer genetic testing is 100% foolproof. In addition, there are probably countless other hereditary cancer syndromes and gene changes present that we as physicians do not know because they have yet to be discovered or identified.

Hereditary syndromes or diseases can "skip" a generation, depending upon the complexities of their transmission from one generation to the next. Some people have the "full blown" hereditary syndrome whereas others just have a "trait" and are not affected by the associated cancers or diseases. In addition, there is a term called "penetrance" which, simply stated, defines the characteristics of a hereditary gene process with regard to its becoming clinically apparent or "silent". A gene that has a high penetrance almost always results in a clinicallly apparent outcome, whereas a gene with a low penetrance is usually not associated with a clinically apparent outcome.

In order to better understand the complexities of cancer genetics, it is always best to under go hereditary cancer genetic testing under the care of a trained cancer geneticist who can individualize such testing on a person to person or a family to family basis.

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