Misdiagnosis of a germline mutation associated with an inherited disease syndrome can have serious implications for the clinical management of patients. A false negative diagnosis (mutation missed by genetic screening) limits decision making about intervention strategies within families. More seriou
Hierarchical mutation screening protocol for the BRCA1 gene
โ Scribed by Madhuri R. Hegde; Belinda Chong; Matthew J. Fawkner; Jenny Leary; Andrew N. Shelling; Bronwyn Culling; Ingrid Winship; Donald R. Love
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 344 KB
- Volume
- 16
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Lodder et al. [2001] add to the growing body of data concerning the psychosocial impact of genetic screening for BRCA1/2 mutations. Importantly, theirs is the ยฎrst study to focus on European women seeking genetic testing in the absence of a personal history of cancer, unlike many American studies
## Abstract BARD1 (BRCA1โassociated RING domain) was identified by yeast twoโhybrid 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
## Abstract Neurofibromatosis 2 (NF2) is a genetic disorder caused by mutational inactivation of the __NF2__ gene and is characterized by bilateral vestibular schwannomas, spinal tumors, and other benign tumors of the nervous system. Previously, we found intragenic __NF2__ mutations in 99 of 188 un
In this study we genotyped Turkish breast/ovarian cancer patients for BRCA1/BRCA2 mutations: protein truncation test (PTT) for exon 11 BRCA1 of and, multiplex PCR and denaturing gradient gel electrophoresis (DGGE) for BRCA2, complemented by DNA sequencing. In addition, a modified restriction assay w
Communicated by Dvorah