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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations.

Six SNPs have been detected in the DNA repair genes RAD51C and RAD51D, not previously characterized. The novel variant E233G in RAD51D is more highly represented in high-risk, site-specific, familial breast cancer cases that are not associated with the BRCA1/2 genes, with a frequency of 5.74% (n = 174) compared to a control population (n = 567) and another subset of breast cancer patients (n = 765) with a prevalence of around 2% only (comparison to controls, OR = 2.6, 95% CI 1.12-6.03; p < 0.021). We found that the immunohistochemical profile detected in available tumors from these patients differs slightly from those described in non-BRCA1/2 tumors. Finally, the structural prediction of the putative functional consequence of this change indicates that it can diminish protein stability and structure. This suggests a role for E233G as a low-penetrance susceptibility gene in the specific subgroup of high-risk familial breast cancer cases that are not related to BRCA1/2.[1]

References

  1. The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations. Rodríguez-López, R., Osorio, A., Ribas, G., Pollán, M., Sánchez-Pulido, L., de la Hoya, M., Ruibal, A., Zamora, P., Arias, J.I., Salazar, R., Vega, A., Martínez, J.I., Esteban-Cardeñosa, E., Alonso, C., Letón, R., Urioste Azcorra, M., Miner, C., Armengod, M.E., Carracedo, A., González-Sarmiento, R., Caldés, T., Díez, O., Benítez, J. Int. J. Cancer (2004) [Pubmed]
 
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