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BRCA1 mutations and phenotype

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Abstract

More than 100 mutations have been described for the breast-cancer-susceptibility geneBRCA1. The paper describes phenotypical aspects of three selected mutations located at the beginning, in the middle, and at the end of the gene. A remarkable decrease of the age of diagnosis of the mammary carcinoma is observed with increasing length of the putative gene product, combined with greater severity of the disease.

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Grade, K., Höffken, K., Kath, R. et al. BRCA1 mutations and phenotype. J Cancer Res Clin Oncol 123, 69–70 (1997). https://doi.org/10.1007/BF01212618

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  • DOI: https://doi.org/10.1007/BF01212618

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