1143 Germline BRCA1/BRCA2 Mutations in Breast/ovarian Cancer Families in Croatia: Identification of Three Novel Mutations
β Scribed by Musani, V.; Levacic Cvok, M.; Susac, I.; Sabol, M.; Ozretic, P.; Car, D.; Eljuga, D.; Levanat, S.
- Book ID
- 123499492
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 71 KB
- Volume
- 48
- Category
- Article
- ISSN
- 0959-8049
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The two major hereditary breast/ovarian cancer predisposition tumor suppressor genes, BRCA1 and BRCA2 that perform apparently generic cellular functions nonetheless cause tissue-specific syndromes in the human population when they are altered, or mutated in the germline. However, little is known abo
Germline mutations in the BRCA1 and BRCA2 genes are responsible for the predisposition and development of familial breast and/or ovarian cancer. Most mutations of BRCA1 and BRCA2 associated with breast and/or ovarian cancer result in truncated proteins. To investigate the presence of BRCA1 and BRCA2