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[Tumor suppressor gen
mutation in the germ line: its significance in familial and sporadic tumors.]
[Article in German]
Muller H, Scott RJ
Abteilung Medizinische Genetik, Kinderspital Basel
Since the discovery of the retinoblastoma tumor suppressor gene many
others have been described associated with a variety of different familial
syndromes.
These include the Li-Fraumeni syndrome, familial breast/ovarian
cancer, multiple endocrine neoplasia (MEN1), neurofibromatosis 1 and 2, tuberous
sclerosis and von Hippel-Lindau disease.
Persons harboring a germ line mutation
in a tumor suppressor gene are not born with disease, merely the predisposition
to develop one.
This is due to the fact that they have inherited only one
functional copy compared to persons with no predisposition who have two copies.
Germ line mutations have not to be inherited, they can result from a spontaneous
mutation occurring during gametogenesis in one patient.
Persons with an
inherited or de-novo germ line mutation have similar risks to develop multiple
cancer or to transmit the defective gene to their offspring.
The genes can be
analyzed by molecular genetic techniques allowing for a precise genetic
diagnosis as well as reliable genetic counselling.
PMID:
7676234 [PubMed - indexed for MEDLINE]
Source: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=7676234
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