- The NCI study team participated in the 5th International LFS association Symposium that was held virtually in October 2020. Various team members were invited to give talks at the conference.
- Congratulations to NCI LFS Study team members Dr. Wegman-Ostrosky and Mr. de Andrade who, along with Dr. Pedro Saint-Maurice, received the 2018 National Cancer Institute Director’s Intramural Innovation Award. Their application entitled, “Life-course physical activity associations with mitochondrial DNA copy number and cancer outcomes in Li-Fraumeni Syndrome” was accepted and fully funded in December 2017. This study will commence soon.
In August 2017, we published a report on the NCI LFS cohort’s prevalence of cancer at baseline screening in JAMA Oncology. The study team observed a higher than expected prevalence of cancer at baseline screening in individuals with LFS. Of the 116 study participants screened, 8 cancers were diagnosed and all but 1 were treated by resection only. Additional studies were required to further investigate 40 other abnormalities, 32 of which were not malignant, detected at time of screening, inferring a ~ 30% false-positive rate. This research shows the feasibility of a comprehensive cancer screening protocol for this high-risk population.
A meta-analysis, published in the same issue of JAMA Oncology, involved 578 participants with LFS in 13 cohorts at multiple research centers around the world. Similarly, utilizing rapid whole-body MRI, the investigators observed an overall detection rate of 7 percent for new primary cancers at baseline screening, confirming the results of the study conducted at NCI.
The published studies can be found on PubMed:
- Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort
- Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis
Psychosocial Aspects of LFS
In November 2015, our LFS team published an article in the Journal of Genetic Counseling (JoGC). Read the epub version of the article: “Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome.”
This paper presents the findings from assessments of the social support and emotional status of the first 66 participants who attended the LFS clinic at the NIH Clinical Center. We saw patients with or without cancer, along with 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. In some families, organized religion was a major source of coping. Confidantes tended to be best friends and/or spouses. Our results shed preliminary light on how some people in LFS families handle tremendous medical, social, and emotional challenges.