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germline mutation

   Also found in: Encyclopedia, Wikipedia 0.03 sec.
germline mutation
Hereditary mutation Molecular medicine An inherited mutation transmitted via the germline from parent to progeny


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However, the role of tumour suppressor gene mutations is indicated by their association with Li-Fraumeni syndrome, which is characterized by inactivating germline mutations of the TP53 gene, gives some insight into the origins of these tumours (1, 3).
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.
Breast cancer genes Although the majority of families with clear autosomal dominant predisposition to breast and/or ovarian cancer are found to have germline mutations in the genes BRCA1 and BRCA2, the contribution of BRCA1 or BRCA2 mutations to breast cancer in the general population is small.
 
 
 
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