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Psychooncology. 2008 Aug;17(8):783-9. doi: 10.1002/pon.1352.

Psychological functioning in persons considering genetic counseling and testing for Li-Fraumeni syndrome.

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The University of Texas MD Anderson Cancer Center, Houston, TX 77230-1439, USA.



Li-Fraumeni syndrome (LFS) confers an increased risk of multiple types of cancer in both children and adults. Clinical genetic testing for deleterious germline p53 gene mutations can identify most LFS-affected families. We evaluated factors associated with cancer-specific distress and perceived self-efficacy in coping with a positive genetic test result among persons at risk of having deleterious p53 mutations.


One hundred thirty-five persons from 15 LFS-affected families were invited to take part in a study that offered p53 genetic counseling and testing and to complete psychosocial measures.


Participants (n=92) were more likely to be younger and female than nonparticipants (n=43). In multivariate analyses, greater cancer-specific distress was associated with having a lower quality of life, a higher perceived risk of having a p53 mutation, no personal history of cancer and a greater number of first degree relatives (FDRs) affected with cancer. Lower perceived self-efficacy in coping with a positive test result was associated with greater cancer worry, higher decisional conflict about p53 testing and having no personal history of cancer.


Individual perceptions about cancer risk and p53 genetic testing, as well as personal experience with FDRs' cancer diagnoses and deaths, should be addressed during the counseling and testing process for LFS-affected families.

[Indexed for MEDLINE]

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