Individuals inherit one mutant copy of a gene from a parent. One additional
mutation in the second copy of the gene will eliminate the protein encoded by
this gene in the cell. Because the first mutation is inherited, the individual
is predisposed (more likely to get) the cancer. For many of the inherited predispositions,
the mutant gene has been identified and its function in controlling cell proliferation
has been determined.
| Hereditary cancer syndromes and the defective gene | |
|---|---|
| Cancer Syndrome | Mutant gene that predisposes |
| Retinoblasoma | RB |
| Li-Fraumeni | P53 |
| FAP (familial adenomatous polyposis) | APC |
| Breast, ovarian | BRCA 1,2 |
| Neurofibromatosis | NF1 |
| Melanoma | P15,16 |
| Basal cell nevus | Patched |
| HNPCC | hMSH2, hMLH1 |