High frequency of BRCA1 5382insC mutation in Russian breast cancer patients.
BRCA1 5382insC variant was repeatedly detected in Jewish breast cancer (BC) families residing in USA and Israel as well as in non-Jewish familial BC patients from Poland, Latvia, Hungary, Russia and some other European countries. However, the distribution of BRCA1 5382insC mutation in unselected BC cases vs. controls has been systematically investigated mainly in Ashkenazi Jews. Here we applied a case-control study design in order to evaluate the impact of BRCA1 5382insC allele on BC incidence in St Petersburg, Russia. High frequency of the BRCA1 5382insC allele was detected in a group of bilateral breast cancer patients (10.4%; 15/144). Randomly selected unilateral BC cases demonstrated noticeable occurrence of BRCA1 5382insC mutation as well (3.7%; 32/857), with evident excess of the carriers in the early-onset (40 years) category (6.1%; 6/99) and in patients reporting breast and/or ovarian tumours in first-degree relatives (11.3%; 11/97). Strikingly, none of 478 middle-aged controls and 344 elderly tumour-free women carried the 5382insC variant. The presented data confirm a noticeable contribution of BRCA1 5382insC mutation in BC development in Russia, that may justify an extended BRCA1 5382insC testing within this population.
Sokolenko
Anna P
AP
Molecular Oncology Department, N.N. Petrov Institute of Oncology, Pesochny-2, St.-Petersburg 197758, Russia.
Mitiushkina
Natalia V
NV
Buslov
Konstantin G
KG
Bit-Sava
Elena M
EM
Iyevleva
Aglaya G
AG
Chekmariova
Elena V
EV
Kuligina
Ekatherina Sh
ESh
Ulibina
Yulia M
YM
Rozanov
Maxim E
ME
Suspitsin
Evgeny N
EN
Matsko
Dmitry E
DE
Chagunava
Oleg L
OL
Trofimov
Dmitry Yu
DY
Devilee
Peter
P
Cornelisse
Cees
C
Togo
Alexandr V
AV
Semiglazov
Vladimir F
VF
Imyanitov
Evgeny N
EN
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D005787:Gene Frequency; D019398:Genes, BRCA1; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D012426:Russia