DISEASES Neoplasms [C04] Neoplasms Neoplastic Syndromes, Hereditary [C04.700] Neoplastic Syndromes, Hereditary Adenomatous Polyposis Coli [C04.700.100] Adenomatous Polyposis Coli Basal Cell Nevus Syndrome [C04.700.175] Basal Cell Nevus Syndrome Birt-Hogg-Dube Syndrome [C04.700.212] Birt-Hogg-Dube Syndrome Colorectal Neoplasms, Hereditary Nonpolyposis [C04.700.250] Colorectal Neoplasms, Hereditary Nonpolyposis Dysplastic Nevus Syndrome [C04.700.305] Dysplastic Nevus Syndrome Exostoses, Multiple Hereditary [C04.700.330] Exostoses, Multiple Hereditary Hamartoma Syndrome, Multiple [C04.700.435] Hamartoma Syndrome, Multiple Hereditary Breast and Ovarian Cancer Syndrome [C04.700.517] Hereditary Breast and Ovarian Cancer Syndrome Li-Fraumeni Syndrome [C04.700.600] Li-Fraumeni Syndrome Multiple Endocrine Neoplasia [C04.700.630] Multiple Endocrine Neoplasia Neurofibromatoses [C04.700.631] Neurofibromatoses Peutz-Jeghers Syndrome [C04.700.633] Peutz-Jeghers Syndrome Tuberous Sclerosis [C04.700.700] Tuberous Sclerosis Wilms Tumor [C04.700.900] Wilms Tumor DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Neoplastic Syndromes, Hereditary [C16.320.700] Neoplastic Syndromes, Hereditary Adenomatous Polyposis Coli [C16.320.700.100] Adenomatous Polyposis Coli Basal Cell Nevus Syndrome [C16.320.700.175] Basal Cell Nevus Syndrome Birt-Hogg-Dube Syndrome [C16.320.700.212] Birt-Hogg-Dube Syndrome Colorectal Neoplasms, Hereditary Nonpolyposis [C16.320.700.250] Colorectal Neoplasms, Hereditary Nonpolyposis Dysplastic Nevus Syndrome [C16.320.700.305] Dysplastic Nevus Syndrome Exostoses, Multiple Hereditary [C16.320.700.330] Exostoses, Multiple Hereditary Hamartoma Syndrome, Multiple [C16.320.700.435] Hamartoma Syndrome, Multiple Hereditary Breast and Ovarian Cancer Syndrome [C16.320.700.517] Hereditary Breast and Ovarian Cancer Syndrome Li-Fraumeni Syndrome [C16.320.700.600] Li-Fraumeni Syndrome Multiple Endocrine Neoplasia [C16.320.700.630] Multiple Endocrine Neoplasia Neurofibromatoses [C16.320.700.633] Neurofibromatoses Peutz-Jeghers Syndrome [C16.320.700.667] Peutz-Jeghers Syndrome Tuberous Sclerosis [C16.320.700.700] Tuberous Sclerosis Wilms Tumor [C16.320.700.900] Wilms Tumor DISEASES Nutritional and Metabolic Diseases [C18] Nutritional and Metabolic Diseases Metabolic Diseases [C18.452] Metabolic Diseases DNA Repair-Deficiency Disorders [C18.452.284] DNA Repair-Deficiency Disorders Ataxia Telangiectasia [C18.452.284.060] Ataxia Telangiectasia Bloom Syndrome [C18.452.284.100] Bloom Syndrome Cockayne Syndrome [C18.452.284.250] Cockayne Syndrome Colorectal Neoplasms, Hereditary Nonpolyposis [C18.452.284.255] Colorectal Neoplasms, Hereditary Nonpolyposis Fanconi Anemia [C18.452.284.280] Fanconi Anemia Li-Fraumeni Syndrome [C18.452.284.520] Li-Fraumeni Syndrome Nijmegen Breakage Syndrome [C18.452.284.600] Nijmegen Breakage Syndrome Rothmund-Thomson Syndrome [C18.452.284.760] Rothmund-Thomson Syndrome Severe Combined Immunodeficiency [C18.452.284.800] Severe Combined Immunodeficiency Werner Syndrome [C18.452.284.960] Werner Syndrome Xeroderma Pigmentosum [C18.452.284.975] Xeroderma Pigmentosum

Li-Fraumeni Syndrome - Preferred

Concept UI	M0025667
Scope note	Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
Preferred term	Li-Fraumeni Syndrome
Entry term(s)	Li Fraumeni Syndrome