Number of the records: 1

Li-Fraumeniho syndróm

Record number	d016864
Date	06.06.2025
Type	M - MESH
Topical term	Li-Fraumeniho syndróm
See also	(Skutočné meno) gény p53
UDC	C04.700.600C16.320.700.600C18.452.284.520
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.

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Number of the records: 1