Germline PALB2 mutation analysis in breast-pancreas cancer families
β Scribed by Stadler, Z. K.; Salo-Mullen, E.; Sabbaghian, N.; Simon, J. A.; Zhang, L.; Olson, S. H.; Kurtz, R.; Offit, K.; Foulkes, W. D.; Robson, M. E.; Tischkowitz, M.
- Book ID
- 121816167
- Publisher
- BMJ Publishing Group
- Year
- 2011
- Tongue
- English
- Weight
- 134 KB
- Volume
- 48
- Category
- Article
- ISSN
- 0022-2593
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## Abstract ## BACKGROUND: It has been demonstrated that the partner and localizer of breast cancer 2 (PALB2) acts as a bridging molecule between the breast cancer 1 (BRCA1) and BRCA2 proteins and is responsible for facilitating BRCA2βmediated DNA repair. Truncating mutations in the __PALB2__ gene
Germline mutations in the PALB2 gene are associated with an increased risk of developing breast cancer but little is known about the frequencies of rare variants in PALB2 and the nature of the variants that influence risk. We selected participants recruited to the Women's Environment, Cancer, and Ra