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From SNPedia
Li-Fraumeni Syndrome (predicted)
Is agenotype
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 7 Li-Fraumeni Syndrome (predicted)

This is a genotype with recommended actions if clinically confirmed. In brief:

  • Based on mutations in the TP53 gene, Li-Fraumeni Syndrome (LFS) is a cancer predisposition syndrome associated with early onset of multiple primary neoplasms.
  • LFS is highly penetrant with a high lifetime risk for cancer.
  • The screening and management of LFS is complex. It is preferred that individuals with LFS be followed at centers with expertise in the management of this syndrome.
  • Annual surveillance with breast MRI should be offered to women aged 20-49 years, and should be considered for women aged 50-69. Other cancers are harder to detect early and a wide variety of surveillance recommendations are available.
  • Carriers of TP53 pathogenic variants are counseled to avoid sun exposure, tobacco use, and other known or suspected carcinogens.

The full ClinGen Actionability report about Li-Fraumeni Syndrome (LFS) can be found here.

Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.