## Abstract BARD1 (BRCA1‐associated RING domain) was identified by yeast two‐hybrid screening as a protein interacting with BRCA1. Somatic and germline mutations of __BARD1__ have been detected in sporadic breast, ovarian, and endometrial cancers. The present study represents the first description
Germline mutations of BRCA1-associated RING domain (BARD1) gene in breast and/or ovarian families negative for BRCA1 and 2 alterations
✍ Scribed by C Ghimenti, E Sensi, D Iandolo, G Cipollini, S Ricci, PF Conte…
- Book ID
- 120700562
- Publisher
- BioMed Central
- Year
- 2000
- Tongue
- English
- Weight
- 298 KB
- Volume
- 2
- Category
- Article
- ISSN
- 1465-5411
- DOI
- 10.1186/bcr102
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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
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