Description of Medical ServiceThe proposed medical service is an annual whole body MRI for individuals with germline pathogenic TP53 variants (Li Fraumeni Syndrome).
Description of Medical ConditionLi Fraumeni Syndrome (LFS) is an ultra-rare condition (between 1/5000-1/20,000 of the population) associated with a very high risk of cancers in multiple tissues. LFS is caused by germline pathogenic variants in the TP53 gene. The estimated risk of cancer by age 30 years is 50%, and the lifetime cancer risk approaches 90% for men, and 100% for women. Life expectancy is severely reduced and estimated to be below 40 years of age. The most common cancer types seen in LFS are (in descending order of frequency): breast cancer, sarcomas, brain cancers, adrenocortical carcinoma, but the incidence of almost all cancer types is increased in this population. Most of these cancers are curable if detected early.
Reason for ApplicationNew MBS item
Medical Service TypeInvestigative
Previous Application Number/sNot Applicable
Application FormApplication Form (PDF 1838 KB)
Application Form (Word 1863 KB)
Consultation SurveyConsultation Survey (PDF 587 KB)
Consultation Survey (Word 68 KB)
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PICO ConfirmationPICO Confirmation (PDF 1359 KB)
PICO Confirmation (Word 462 KB)