msyamp
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its seen in p 53 or any tumuor suppressor gene inheritance.
it shu get damages in both homologous chromosomes. so in p53 mutation. the chlid inherits a mutation in one chromosome and he gets mutated p53 in second homologous chr and gets cancer.
so he is hit twice before he gets the actual disese. so people with one damaged p53 will have a very high likly hood of lifraumani or any other cancer disorder
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| malinda
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so if only one chromosome affected,there will be a risk but no disease?
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| msyamp
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yup you are right
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| mazinger
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Think of RB1 mutation in chromosome 13.. The inheritance pattern is autosomal dominant with a 90% of penetrance..
In order to express or develope a neoplasm by inheriting a defect in a tumor suppressor gene (loss of function mutation), you have to aqcuire a second hit (secondary somatic mutation) through out your life.. Which in this particular case 90% if people who inherit this mutation will develope a second hit and subsequently neoplasia (retinoblastomas or osteosarcomas)...
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