Number of the records: 1
Li-Fraumeniho syndróm
SYS d016864 LBL 00000nx--j22000003--45-- 005 20250201155313.8 100 $a 19920621csloy0103----ba0 152 $b mesh 250 $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 $8 slo 300 1-
$a 92 $8 eng 300 1-
$a Neoplasms (1982-1986) $8 eng 300 1-
$a Neoplastic Syndromes, Hereditary (1987-1991) $8 eng 300 1-
$a Syndrome (1982-1986) $8 eng 330 1-
$a 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. $8 eng 550 $3 sllk_un_auth*d016158 $Y Genes, p53 $5 F $a gény p53 686 $a C04.700.600 686 $a C16.320.700.600 686 $a C18.452.284.520 750 $a Li-Fraumeni Syndrome $8 eng 801 -0
$a US $b DNLM $c 19920621 801 -2
$a SK $b BA006 $c 20070706 980 $x M
Number of the records: 1