Li–Fraumeni syndrome

Also known as: SBLA syndrome

Hereditary cancer predisposition including adrenocortical carcinoma.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Endocrine oncology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, adrenocortical carcinoma in infants and children
Gene(s) involved: CHEK2, TP53

Etiology & mechanism

TP53 germline loss.

Gene(s) involved (2)

CHEK2TP53

Symptoms & signs (7)

adrenocortical carcinomabrain tumorsbreast cancercushing syndromeleukemiasarcomavirilization

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