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Li-Fraumeniho syndróm
SYS d016864 LBL 00000nz--a2200000o--4500 005 20250606214535.8 008 920621|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C04.700.600 065 $a C16.320.700.600 065 $a C18.452.284.520 066 $a 01 $c 03 150 $a Li-Fraumeniho syndróm $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $2 slo 550 $7 sllk_us_auth*d016158 $Y Genes, p53 $w p $a gény p53 665 $a 92 $2 eng 665 $a Neoplasms (1982-1986) $2 eng 665 $a Neoplastic Syndromes, Hereditary (1987-1991) $2 eng 665 $a Syndrome (1982-1986) $2 eng 680 9-
$i 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. $2 eng 750 -2
$a Li-Fraumeni Syndrome $2 eng 980 $x M
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