title: CHEK2 1100delC mutation is frequent among Russian breast cancer patients.
abstract: 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.
authors.affiliation: N.N. Petrov Institute of Oncology, St.-Petersburg, Russia.
authors.forename: Elena V
authors.initials: EV
authors.lastname: Chekmariova
authors.forename: Anna P
authors.initials: AP
authors.lastname: Sokolenko
authors.forename: Konstantin G
authors.initials: KG
authors.lastname: Buslov
authors.forename: Aglaya G
authors.initials: AG
authors.lastname: Iyevleva
authors.forename: Yulia M
authors.initials: YM
authors.lastname: Ulibina
authors.forename: Maxim E
authors.initials: ME
authors.lastname: Rozanov
authors.forename: Natalia V
authors.initials: NV
authors.lastname: Mitiushkina
authors.forename: Alexandr V
authors.initials: AV
authors.lastname: Togo
authors.forename: Dmitry E
authors.initials: DE
authors.lastname: Matsko
authors.forename: Dmitry A
authors.initials: DA
authors.lastname: Voskresenskiy
authors.forename: Oleg L
authors.initials: OL
authors.lastname: Chagunava
authors.forename: Peter
authors.initials: P
authors.lastname: Devilee
authors.forename: Cees
authors.initials: C
authors.lastname: Cornelisse
authors.forename: Vladimir F
authors.initials: VF
authors.lastname: Semiglazov
authors.forename: Evgeny N
authors.initials: EN
authors.lastname: Imyanitov
mesh_terms: 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
chemical_list: D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases