hereditary
No description yet: the sentence for this tag has not been written. 5 records carry it: 3 terms, 2 cancers.
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5 records
| Cancers | Other tags | ||||
|---|---|---|---|---|---|
Hereditary cancer syndromes About 5-10% of cancers arise from an inherited gene fault. Recognising the syndromes (BRCA, Lynch, Li-Fraumeni, VHL, MEN, FAP, retinoblastoma and dozens more) changes screening, surgery and treatment for the patient and their relatives. | none | none | none | ||
Li-Fraumeni syndrome (germline TP53) Li-Fraumeni syndrome is an inherited fault in the TP53 gene giving a lifetime cancer risk near 100% in women and ~75% in men, with sarcomas, breast cancer, brain tumours, adrenal cancer and leukaemias often in childhood. Whole-body MRI surveillance saves lives. | none | none | none | ||
Multiple endocrine neoplasia syndromes (MEN1, MEN2, MEN4) The MEN syndromes are inherited faults in a single gene that cause tumours in several hormone glands over a lifetime. Because the gene can be found in childhood, at-risk relatives can be tested, watched and in MEN2 have the thyroid removed before cancer develops; and for MEN2 thyroid cancer that does spread there is now a precise pill, selpercatinib, that blocks the faulty RET protein. | none | none | rare, endocrine | ||
Retinoblastoma An eye cancer of infants caused by loss of the RB1 gene, the first tumour-suppressor gene ever found. In rich countries almost every child survives and most eyes are saved by chemotherapy delivered through the eye's artery; in low-income countries, where most cases occur, survival depends on finding it early, and that is the global gap. | none | none | paediatric, eye | ||
Von Hippel-Lindau disease Von Hippel-Lindau disease is an inherited condition causing kidney cancers, adrenal tumours, and blood-vessel tumours of the brain, spine, eye and pancreas from early adulthood. It taught us how cells sense oxygen and gave rise to the drug belzutifan, the first medicine for VHL tumours. | none | none | none |