Li and Fraumeni first described a hereditary cancer predisposition syndrome involving mutations in the tumor suppressor gene TP53.
Gene: TP53
Location: chromosome 17p13
Classic criteria for Li-Fraumeni Syndrome (LPS) - all of the following:
(1) The patient is diagnosed with a sarcoma when < 45 years of age.
(2) The patient has a first degree relative with cancer diagnosed when < 45 years of age
(3) The patient has another first or second degree relative with one of the following:
(3a) any cancer diagnosed when < 45 years of age
(3b) a sarcoma diagnosed at any age
Malignancies associated with the LFS:
(1) sarcoma
(2) breast cancer
(3) brain tumor
(4) adrenocortical carcinoma
(5) leukemia
(6) lung cancer
(7) malignant melanoma
(8) gastric cancer
(9) pancreatic cancer
(10) prostate cancer
(11) germ cell tumors
(12) Wilms tumor
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Specialty: Hematology Oncology, Genetics, Surgery, general
