Article
Clustering of cancer-related mutations in a subset of BRCA1 alleles: a study in the Spanish population.
International journal of cancer - 10 Aug 2002
de la Hoya Miguel, Sulleiro Sara, Osorio Ana, Díez Orland, Baiget Montserrat, Benítez Javier, Díaz-Rubio Eduardo, Caldés Trinidad
Abstract excerpt
We have observed that the frequency of D17S855 short alleles (139 bp and 141 bp) in individuals carrying BRCA1 germline mutations is higher than in controls (54% vs. 31%, p = 0.0004). By unambiguously establishing mutation/D17S855 phase in 18 BRCA1-positive families, we find that most (11 of 15 different mutations) BRCA1 defects are linked to chromosomes with short alleles (OR = 8.21, 95% CI 1.97-39.32, p =...
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