title: BRCA1 4153delA founder mutation in Russian ovarian cancer patients.
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.
authors.affiliation: NN Petrov Institute of Oncology, St, Petersburg, Russia; Medical Academy of Postgraduate Studies, St, Petersburg, Russia. evgeny@imyanitov.spb.ru.
authors.forename: Nadezhda Yu
authors.initials: NY
authors.lastname: Krylova
authors.forename: Oksana S
authors.initials: OS
authors.lastname: Lobeiko
authors.forename: Anna P
authors.initials: AP
authors.lastname: Sokolenko
authors.forename: Aglaya G
authors.initials: AG
authors.lastname: Iyevleva
authors.forename: Maxim E
authors.initials: ME
authors.lastname: Rozanov
authors.forename: Natalia V
authors.initials: NV
authors.lastname: Mitiushkina
authors.forename: Madina M
authors.initials: MM
authors.lastname: Gergova
authors.forename: Tatiana V
authors.initials: TV
authors.lastname: Porhanova
authors.forename: Adel F
authors.initials: AF
authors.lastname: Urmancheyeva
authors.forename: Sergey Ya
authors.initials: SY
authors.lastname: Maximov
authors.forename: Alexandr V
authors.initials: AV
authors.lastname: Togo
authors.forename: Evgeny N
authors.initials: EN
authors.lastname: Imyanitov