Article
Of mice and (wo)men: genotype-phenotype correlations in BRCA1.
Human molecular genetics - 15 Oct 2003
Hohenstein Peter, Fodde Riccardo
Abstract excerpt
To date, over 6300 mutations in BRCA1, involving 1100 distinct sites, have been described and reported in the BIC (breast cancer information core) database. Since the first BRCA1 mutations in early-onset breast and ovarian cancer families were reported, several attempts to establish genotype-phenotype correlations for this gene have been reported. Moreover, in vitro data have suggested dominant-negative effects...
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