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Li-Fraumeni Syndrome (LFS) is a rare, inherited disorder which leads to a higher risk of developing certain cancers. These cancers tend to occur at younger ages in patients with LFS than in the general population. The types of tumors most frequently seen in LFS include bone and soft tissue cancers (called "sarcomas",), breast cancer, brain tumors, and cancer of the adrenal gland. The diagnosis of LFS is based on an individual’s personal and family history of cancers. Heritable disease-causing changes in a gene called TP53 is currently the only known cause of LFS and is identified in about 70% of families with a clinical diagnosis of LFS.
In order to more efficiently study the medical, genetic, psychological, and social functioning issues associated with LFS, the Clinical Genetics Branch (CGB) of the National Cancer Institute (NCI) joined with researchers from around the world to form the Li-Fraumeni Exploration (LiFE) Research Consortium. The most pressing research questions related to LFS require assembling information from multiple research institutions, in order to have the large number of affected and unaffected family members required for research of this kind. In support of both the LiFE consortium and its own research program, CGB is also conducting a detailed study (based at the National Institutes of Health/National Cancer Institute in Bethesda, MD) of individuals with LFS and their family members.
In November, 2015, our LFS team published online in the Journal of Genetic Counseling (JoGC) entitled "Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome". The e-pub version of the paper can be found online at: http://link.springer.com/article/10.1007%2Fs10897-015-9905-x
This paper presents the findings from assessments of the social support and emotional status of the first 66 participants who attended the Li-Fraumeni Syndrome (LFS) clinic at the NIH Clinical Center. We saw patients with or without cancer, relatives and spouses. Most people did not indicate distress on a standardized measure. We found that reported friendships varied widely and were an important source of informational, tangible, emotional and spiritual support. Organized religion was important in selected families as a source of coping. Confidantes tended to be best friend and/or spouses. Our results shed preliminary light on how some people in families with LFS cope in the face of tremendous medical, social and emotional challenges.
View additional highlights on the Research Highlights page.