## Communicated by Dvorah Abeliovich Rapid and reliable identification of deleterious changes in the breast cancer genes BRCA1 and BRCA2 has become one of the major issues in most DNA services laboratories. To rapidly detect all possible changes within the coding and splice site determining sequen
A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening
โ Scribed by Bonaiti, B.; Alarcon, F.; Andrieu, N.; Bonadona, V.; Dondon, M.-G.; Pennec, S.; Stoppa-Lyonnet, D.; Bonaiti-Pellie, C.; Perdry, H.
- Book ID
- 121744885
- Publisher
- BMJ Publishing Group
- Year
- 2013
- Tongue
- English
- Weight
- 633 KB
- Volume
- 51
- Category
- Article
- ISSN
- 0022-2593
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๐ SIMILAR VOLUMES
We have developed a 2-stage protocol for BRCA1 and BRCA2 mutation screening from blood spot paper. Stage 1 screening was aimed to analyze patients at highest risk for the most common disease-associated sequence variants listed in the BIC database. Accordingly, stage1 testing implied detection of 18
## Abstract Index cases from a clinically relevant cohort of 102 Spanish families with at least 3 cases of breast and/or ovarian cancer (at least 1 case diagnosed before age 50) in the same lineage were screened for germline mutations in the entire coding sequence and intron boundaries of the breas