Spectrum of mutations in BRCA1 gene in hereditary forms of breast and ovarian cancer in Russian families

• Published in: Bulletin of experimental biology and medicine Vol. 136; no. 3; pp. 276 - 278
• Main Authors: Loginova, A N, Pospekhova, N I, Lyubchenko, L N, Budilov, A V, Zakhar'ev, V M, Gar'kavtseva, R F, Ginter, E K, Karpukhin, A V
• Format: Journal Article
• Language: English
• Published: United States Springer Nature B.V 01-09-2003
• Subjects: BRCA1 Protein - genetics; Breast Neoplasms - genetics; Family Health; Female; Genes, BRCA1; Genetic Predisposition to Disease - genetics; Humans; Mutation; Ovarian cancer; Ovarian Neoplasms - genetics
• ISSN: 0007-4888; 1573-8221
• DOI: 10.1023/B:BEBM.0000008982.21806.9b

The 5382insC mutation predominated (94%) in the spectrum of detected mutations of BRCA1 gene. High incidence of this mutation in familial breast cancer detected for the first time attested to origination of 5382insC mutation from the European part of Russia. The percentage of families with mutations in BRCA1 gene and familial predisposition to ovarian cancer was significantly higher than in hereditary predisposition to breast cancer (p<0.007). These data suggest that clinical manifestation of the mutation depends on genotypical factors other than the position of this mutation in BRCA1 gene. The results prompt screening for hereditary predisposition to these diseases.