hereditary mutation


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hereditary mutation

Germline mutation Genetics A genetic change in germ cells–egg or sperm that is incorporated into the DNA of each cell of offspring
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"This is why newborns have to be checked to ensure that they don't suffer from hereditary mutations in future and enable us to intervene to come up with particular cures for each case, while understanding what those newborns should or shouldn't be given as diet.
Less than half knew about possible paternal inheritance, the low rate of hereditary mutations and their penetrance.
A DNA chip, which can detect hereditary mutations in just 20 minutes, has been invented by a British-Cypriot Professor who is among the finalists for this year`s European Inventor Award in the category of research.
According to the research team, there were also cases of other cancer types in families with these hereditary mutations such as leukaemias and brain tumours and the mutations that deactivate the POT1 gene may underlie other cancers, not just melanoma.
Germline mutations in CDKN2A account for up to 40% of familial cases linked to hereditary mutations. Pathogenetic CDKN2A mutations are associated with a very high lifetime risk of melanoma--76% in an American study and more than 90% in an Australian one-and with increased risk of pancreatic cancer in some, but not all, families.

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