Hereditary Cancer in Clinical Practice (Sep 2006)

BRCA1 4153delA founder mutation in Russian ovarian cancer patients

  • Krylova Nadezhda,
  • Lobeiko Oksana S,
  • Sokolenko Anna P,
  • Iyevleva Aglaya G,
  • Rozanov Maxim E,
  • Mitiushkina Natalia V,
  • Gergova Madina M,
  • Porhanova Tatiana V,
  • Urmancheyeva Adel F,
  • Maximov Sergey,
  • Togo Alexandr V,
  • Imyanitov Evgeny N

DOI
https://doi.org/10.1186/1897-4287-4-4-193
Journal volume & issue
Vol. 4, no. 4
pp. 193 – 196

Abstract

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Abstract The BRCA1 4153delA allele is frequently referred to as the Russian founder mutation, as it was initially detected in several cancer families from Moscow. Our earlier studies have demonstrated 1% occurrence of BRCA1 4153delA heterozygosity in familial and/or early-onset and/or bilateral Russian breast cancer (BC) patients. Since literature data suggest that the 4153delA variant is more associated with ovarian cancer (OC) than with BC, we expected to reveal a highly elevated frequency of this genotype in Russian ovarian cancer series. However, real-time allele-specific PCR genotyping has detected only two BRCA1 4153delA carriers out of 177 unselected OC patients (1.1%). Both these carriers were early-onset and had serous carcinomas of grade 3. Thus, our study supports neither the Russian origin of BRCA1 4153delA mutation, nor its selectivity towards ovarian versus breast cancer predisposition.

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