Definitions for li–fraumeni syndrome
li–frau·meni syn·drome

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1. Li–Fraumeni syndrome

   Li–Fraumeni syndrome is a rare, autosomal dominant, hereditary disorder that predisposes carriers to cancer development. It was named after two American physicians, Frederick Pei Li and Joseph F. Fraumeni, Jr., who first recognized the syndrome after reviewing the medical records and death certificates of 648 childhood rhabdomyosarcoma patients. This syndrome is also known as the sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome. The syndrome is linked to germline mutations of the p53 tumor suppressor gene, which encodes a transcription factor (p53) that normally regulates the cell cycle and prevents genomic mutations. The mutations can be inherited, or can arise from mutations early in embryogenesis, or in one of the parent's germ cells.

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1. Li–Fraumeni syndrome

   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 syndrome. The syndrome is linked to germline mutations of the p53 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. Because the TP53 gene is responsible for initiating DNA repair mechanisms and/or apoptosis upon detection of DNA damage, Li–Fraumeni syndrome, with one of the two p53 copies already mutated, predisposes a person to cancer development because only one additional mutation is necessary to impair a significant portion of the tumor suppressor system. This "second hit", which can be affected by environmental factors, can directly lead to both p53 alleles being impaired and thus potentiate cancer development. Indeed, 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.

How to pronounce li–fraumeni syndrome?

1. Alex

   US English

   David

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   Mark

   US English

   Daniel

   British

   Libby

   British

   Mia

   British

   Karen

   Australian

   Hayley

   Australian

   Natasha

   Australian

   Veena

   Indian

   Priya

   Indian

   Neerja

   Indian

   Zira

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   Oliver

   British

   Wendy

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   Fred

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   Tessa

   South African

How to say li–fraumeni syndrome in sign language?

Numerology

1. Chaldean Numerology

   The numerical value of li–fraumeni syndrome in Chaldean Numerology is: 4

2. Pythagorean Numerology

   The numerical value of li–fraumeni syndrome in Pythagorean Numerology is: 5

References

1. ^ Wikipedia
   https://en.wikipedia.org/wiki/Li–fraumeni_Syndrome
2. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=li–fraumeni syndrome