Li-Fraumeni syndrome
ORPHA:524DiseaseAutosomal dominantAll ages
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CDKN2A | cyclin dependent kinase inhibitor 2A | Candidate gene tested in | gene with protein product | 600160 |
| MDM2 | MDM2 proto-oncogene | Modifying germline mutation in | gene with protein product | 164785 |
| TP53 | tumor protein p53 | Disease-causing germline mutation(s) in | gene with protein product | 191170 |
| CHEK2 | checkpoint kinase 2 | Candidate gene tested in | gene with protein product | 604373 |
Фенотипы (HPO)35
Очень частый (80–99%)1
HP:0002664Neoplasm
Частый (30–79%)1
HP:0003002Breast carcinoma
Периодический (5–29%)14
HP:0001909Leukemia
HP:0002665Lymphoma
HP:0002669Osteosarcoma
HP:0002859Rhabdomyosarcoma
HP:0002888Ependymoma
HP:0006744Adrenocortical carcinoma
HP:0007378Neoplasm of the gastrointestinal tract
HP:0009592Astrocytoma
HP:0012126Stomach cancer
HP:0012174Glioblastoma multiforme
HP:0030070Central primitive neuroectodermal tumor
HP:0030392Choroid plexus carcinoma
HP:0100006Neoplasm of the central nervous system
HP:0200063Colorectal polyposis
Очень редкий (1–4%)19
HP:0002861Melanoma
HP:0002863Myelodysplasia
HP:0002885Medulloblastoma
HP:0002890Thyroid carcinoma
HP:0002894Neoplasm of the pancreas
HP:0003003Colon cancer
HP:0004808Acute myeloid leukemia
HP:0006721Acute lymphoblastic leukemia
HP:0009726Renal neoplasm
HP:0010788Testicular neoplasm
HP:0012125Prostate cancer
HP:0012189Hodgkin lymphoma
HP:0012288Neoplasm of head and neck
HP:0012539Non-Hodgkin lymphoma
HP:0100526Neoplasm of the lung
HP:0100605Neoplasm of the larynx
HP:0100615Ovarian neoplasm
HP:0100743Neoplasm of the rectum
HP:0100768Choriocarcinoma
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 7 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 5 | United States | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)