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Li-Fraumeniho syndróm

Č. záznamu	d016864
Dátum	06.06.2025
Typ	M
Tematický termín	Li-Fraumeniho syndróm
Pozri tiež	(Skutočné meno) gény p53
MDT	C04.700.600C16.320.700.600C18.452.284.520
Poznámka	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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