CHEK2 1100delC mutation is frequent among Russian breast cancer patients.
This study was aimed to assess the role of CHEK2 1100delC mutation in breast cancer (BC) predisposition in Russia. The 1100delC allele was detected in 14/660 (2.1%) unilateral BC cases and in 8/155 (5.2%) patients with the bilateral form of the disease, but only in 1/448 (0.2%) middle-aged control females and in none of 373 elderly tumor-free women. The obtained data point at potentially high clinical relevance of CHEK2 1100delC testing in females of Russian origin and warrant similar case-control studies in ethnically and geographically related regions, especially in Ukraine, Belarus and Baltic countries.
Chekmariova
Elena V
EV
N.N. Petrov Institute of Oncology, St.-Petersburg, Russia.
Sokolenko
Anna P
AP
Buslov
Konstantin G
KG
Iyevleva
Aglaya G
AG
Ulibina
Yulia M
YM
Rozanov
Maxim E
ME
Mitiushkina
Natalia V
NV
Togo
Alexandr V
AV
Matsko
Dmitry E
DE
Voskresenskiy
Dmitry A
DA
Chagunava
Oleg L
OL
Devilee
Peter
P
Cornelisse
Cees
C
Semiglazov
Vladimir F
VF
Imyanitov
Evgeny N
EN
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics*; D016022:Case-Control Studies; D064447:Checkpoint Kinase 2; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012426:Russia / Q000453:epidemiology; D044465:White People / Q000235:genetics
D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases