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SYNDROME LI-FRAUMENI [1 record]

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Record 1 2018-12-07

English

Subject field(s)
  • Cancers and Oncology
  • Genetics
DEF

A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas …, brain tumors and adrenal cortical carcinoma (ACC) …

CONT

Individuals with LFS have an approximately 50% [chance] of developing cancer by age 40, and up to a 90% percent chance by age 60, while females have nearly a 100% risk of developing cancer in their lifetime due to their markedly increased risk of breast cancer.

OBS

Li-Fraumeni syndrome is caused by a mutation in the p53 (Tp53) tumour suppressor gene or a mutation in the CHEK2 tumour suppressor gene.

French

Domaine(s)
  • Cancers et oncologie
  • Génétique
DEF

Syndrome rare de prédisposition au cancer caractérisé par l'apparition précoce de plusieurs cancers primitifs tels que le cancer du sein, les sarcomes osseux et des tissus mous, la tumeur cérébrale et le corticosurrénalome (ACC).

CONT

Le facteur héréditaire peut [...] consister en un défaut des systèmes de réparation de l'ADN après lésion, ce qui accroît le risque de mutation (syndrome de Li-Fraumeni).

OBS

Le syndrome de Li-Fraumeni est causé par une mutation du gène suppresseur de tumeur p53 (TP53) ou du gène suppresseur de tumeur CHEK2.

Spanish

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