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- Li–Fraumeni_syndrome abstract "Li–Fraumeni syndrome is an extremely rare autosomal dominant hereditary disorder. Named after Frederick Pei Li and Joseph F. Fraumeni, Jr., the American physicians who first recognized and described the syndrome, Li–Fraumeni syndrome greatly increases susceptibility to cancer. This syndrome is also known as the Sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome.The syndrome is linked to germline mutations of the TP53 tumor suppressor gene, which normally helps control cell growth. The mutations can be inherited or can arise de novo early in embryogenesis or in one of the parent's germ cells.The TP53 gene is responsible for initiating DNA repair mechanisms and/or apoptosis upon detection of DNA damage." P53 is a dominant negative mutation, so the mutant protein can inactivate the normal protein, meaning the mutant protein is dominant. Because of this, Li–Fraumeni syndrome, with one of the two p53 copies already mutated, predisposes a person to cancer development. Persons with Li–Fraumeni syndrome have an approximately 25-fold increased risk of developing a malignant tumor by age 50 than the population average, and are at risk for a wide range of malignancies, with particularly high occurrences of breast cancer, brain tumors, acute leukemia, soft tissue sarcomas, bone sarcomas, and adrenal cortical carcinoma.".
- Li–Fraumeni_syndrome wikiPageID "1009951".
- Li–Fraumeni_syndrome wikiPageRevisionID "606396987".
- Li–Fraumeni_syndrome diseasesdb "7450".
- Li–Fraumeni_syndrome emedicinesubj "ped".
- Li–Fraumeni_syndrome emedicinetopic "1305".
- Li–Fraumeni_syndrome icd "758.3".
- Li–Fraumeni_syndrome meshid "D016864".
- Li–Fraumeni_syndrome name "Li–Fraumeni syndrome".
- Li–Fraumeni_syndrome omim "151623".
- Li–Fraumeni_syndrome subject Category:DNA_replication_and_repair-deficiency_disorders.
- Li–Fraumeni_syndrome subject Category:Hereditary_cancers.
- Li–Fraumeni_syndrome subject Category:Rare_diseases.
- Li–Fraumeni_syndrome subject Category:Syndromes.
- Li–Fraumeni_syndrome subject Category:Transcription_factor_deficiencies.
- Li–Fraumeni_syndrome type Disease.
- Li–Fraumeni_syndrome type Situation.
- Li–Fraumeni_syndrome comment "Li–Fraumeni syndrome is an extremely rare autosomal dominant hereditary disorder. Named after Frederick Pei Li and Joseph F. Fraumeni, Jr., the American physicians who first recognized and described the syndrome, Li–Fraumeni syndrome greatly increases susceptibility to cancer. This syndrome is also known as the Sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome.The syndrome is linked to germline mutations of the TP53 tumor suppressor gene, which normally helps control cell growth.".
- Li–Fraumeni_syndrome label "Li-Fraumeni-Syndrom".
- Li–Fraumeni_syndrome label "Li–Fraumeni syndrome".
- Li–Fraumeni_syndrome label "Sindrome di Li-Fraumeni".
- Li–Fraumeni_syndrome label "Syndrome de Li-Fraumeni".
- Li–Fraumeni_syndrome label "Syndroom van Li-Fraumeni".
- Li–Fraumeni_syndrome label "Síndrome de Li-Fraumeni".
- Li–Fraumeni_syndrome label "Síndrome de Li-Fraumeni".
- Li–Fraumeni_syndrome label "Zespół Li-Fraumeni".
- Li–Fraumeni_syndrome label "متلازمه لي-فراوميني".
- Li–Fraumeni_syndrome label "李-佛美尼症候群".
- Li–Fraumeni_syndrome sameAs Li%E2%80%93Fraumeni_syndrome.
- Li–Fraumeni_syndrome sameAs Li-Fraumeni-Syndrom.
- Li–Fraumeni_syndrome sameAs Síndrome_de_Li-Fraumeni.
- Li–Fraumeni_syndrome sameAs Li-Fraumeni_sindrome.
- Li–Fraumeni_syndrome sameAs Syndrome_de_Li-Fraumeni.
- Li–Fraumeni_syndrome sameAs Sindrome_di_Li-Fraumeni.
- Li–Fraumeni_syndrome sameAs Syndroom_van_Li-Fraumeni.
- Li–Fraumeni_syndrome sameAs Zespół_Li-Fraumeni.
- Li–Fraumeni_syndrome sameAs Síndrome_de_Li-Fraumeni.
- Li–Fraumeni_syndrome sameAs Q187542.
- Li–Fraumeni_syndrome sameAs Q187542.
- Li–Fraumeni_syndrome wasDerivedFrom Li–Fraumeni_syndrome?oldid=606396987.