Genetic Testing and Early Detection Screening - Li-Fraumeni Syndrome Association

With advances in genetic testing, researchers and providers have been facing challenges in interpreting the pathogenic variants of TP53.   Li-Fraumeni syndrome:  not a straightforward diagnosis anymore…  (December 2020)

Our 5th International LFS Association Symposium hosted by the Dana-Farber Cancer Institute and in collaboration with the LiFE medical consortium moved from Boston to online October 2020.  You can still register and access the virtual conference here.

We are very pleased to announce that the 4th International LFS Association Symposium hosted by the Hospital for Sick Children in collaboration with the LiFE medical consortium in April 2018 in Toronto is now available to view on our website!  Here, you will hear from the top LFS researchers in the world on information that is largely not yet published! 

Presented this past weekend at ASCO 2018 annual meeting in Chicago ASCO 2018 – by our friends and families at the National Cancer Institute, Division of Cancer Epidemiology and Genetics, a study review of women followed with LFS and the potential protective benefits of breast feeding from the development of breast cancer.

CancerSEEK:  the quest for early detection of cancer cells through a “liquid biopsy” blood test.  This particular test scored about 70% of the time with eight common tumors in patients whose cancers had not yet spread.  (Science, February 28, 2018)

At our 4th International LFS Association Symposium, we heard from Dr. Kim Nichols of St. Jude Children’s Research Hospital in Memphis speaking on pediatric leukemia. In this article, she develops on the possibility of cancer screening. (The Scientist, April 2018)

Screenings matter!!  Listen to JAMA Oncology’s podcast interview with LFS Association Medical Advisory Board member and leading author of the 2017 publication, “Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort,”  Dr. Sharon Savage, MD, Chief of Clinical Genetics Branch, Division of Cancer Epidemiology, National Cancer Institute.  Dr. Savage touts the successes of early detection with the recommended screening protocols.  Of those followed at NCI for this study, researchers uncovered new, asymptomatic primary cancers in 7% of the 116 LFS patients.   Of these, 7 out of 8 cancers were cured by surgery alone!

“Screening with whole-body magnetic resonance imaging in pediatric subjects with Li–Fraumeni syndrome: A single institution pilot study.”  Electronically published October 2017, researchers at the Dana-Farber Cancer Institute have determined that whole- body MRIs are a well-tolerated screening method for children with LFS, in spite of the need for general anesthesia for some of them.  Pediatric Blood and Cancer. 2017 Oct 27. doi: 10.1002/pbc.26822.

“Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.” Published in June 2017, new screening recommendations by the world’s leading LFS researchers are now available!  Based on an international collaborative effort, researchers recommend a modified version of the “Toronto Protocol,” to include physical exams, blood tests, and imaging. They further recognize the need to evaluate the feasibility and effectiveness of surveillance and preventative strategies while addressing the psychosocial needs of those living with LFS. (Clinical Cancer Research; 231(11); e38-e45. June 2017)

“Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient.”  Also published as part of the American Association of Cancer Research’s Pediatric Oncology Series in June 2017 is this excellent review of factors for consideration.

“Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions.”    Having Li-Fraumeni syndrome can predispose children to leukemia.  Also published in June 2017 as part of the American Association of Cancer Research’s Pediatric Oncology Seriesare these recommendations for screening.

“Biochemical and imaging surveillance in germline TP53 mutations carriers with Li-Fraumeni syndrome:  11-year follow-up of a prospective observational study.”  Published in September 2016, researchers showed that long-term compliance with a comprehensive surveillance protocol (such as the one dubbed “the Toronto protocol”) for early cancer detection is not only feasible, but is, in fact, associated with improved long-term survival.  (The Lancet / Oncology, vol. 17)

Having trouble with insurance coverage of annual screenings as an LFS patient? In consideration of the challenges of LFS and supporting research (reference the Lancet article as supporting evidence), MRI screenings have become the new standard of care adopted by many of the institutions that care for pediatric LFS patients. Please encourage your insurance provider to contact any one of the centers referenced as LFS patient care providers on our webpage for guidance.

“Get Naked” with Melanoma Research Foundation’s self-screening guide.

DFCI’s Insight: Know your skin and get professionally screened – “Melanoma most commonly arises in the skin and with awareness and examination can be directly spotted in its very early stages – a huge advantage over most other cancers.”

MSKCC’s On Cancer: on colorectal screening and preventing cancer. (April 2015)

American Cancer Society:  Consider genetic testing – thus far, research doesn’t show “a lot of long-term distress as a result of getting the information….” In fact, “most people (who test positive for a genetic predisposition) are proactive and engaged in risk reduction behaviors. People who test positive tend to take action through ‘engaging in enhanced screening, risk-reducing surgery, or chemo prevention.'” (Personalizing Care Part 3)

Cure magazine:  An Argument for Genetic Testing.  “….genetic testing for particular genetic mutations may save their lives if they are vigilant with their lifestyles and screenings – such a diagnosis does not necessarily entail a death sentence.” Additionally, genetic counseling, coupled with genetic testing, may provide immeasurable relief by reducing uncertainties. (March 18, 2015)

Save the date: Tuesday, March 24th, from 1:00 – 2:00 PM, EST. The Colon Cancer Alliance and Community Health Charities are hosting a webinar about colon cancer and your screening options. Learn what to expect during a screening, and register here.

National Cancer Insitute’s Cancer Topic: Detecting colon and rectal cancer. “No excuses.”

Available in the United Kingdom: Magnetic Resonance Imaging Screening In Li-Fraumeni Syndrome: An Exploratory Whole Body MRI Study. See if you can take advantage of this screening as an LFS patient in the UK. This study is open through the end of 2015:  SIGNIFY

Huntsman Cancer Institute:  lung cancer screening brochure