title: Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia.
abstract: Previous studies indicate that founder mutations may play a noticeable role in breast cancer (BC) predisposition in Russia. Here we performed a systematic analysis of eight recurrent mutations in 302 BC cases (St.-Petersburg, Russia), which were selected due to the presence of clinical indicators of hereditary disease (bilaterality and/or early onset (< or =40 years) and/or family history). BC-associated alleles were revealed in 46 (15.2%) women. BRCA1 5382insC mutation was detected in 29 (9.6%) patients, CHEK2 1100delC in 9 (3.0%), BRCA1 4153delA in 3 (1.0%), CHEK2 IVS2+1G>A in 2 (0.7%), and BRCA1 185delAG, BRCA2 6174delT and NBS1 657del5 in 1 (0.3%) patient each. No cases with BRCA1 300T>G (C61G) mutation was identified. The obtained data suggest that a significant fraction of hereditary BC cases in Russia can be diagnosed using only a limited number of simple PCR tests.
authors.affiliation: N.N. Petrov Institute of Oncology, Pesochny-2, St.-Petersburg 197758, Russia.
authors.forename: Anna P
authors.initials: AP
authors.lastname: Sokolenko
authors.forename: Maxim E
authors.initials: ME
authors.lastname: Rozanov
authors.forename: Natalia V
authors.initials: NV
authors.lastname: Mitiushkina
authors.forename: Natalia Yu
authors.initials: NY
authors.lastname: Sherina
authors.forename: Aglaya G
authors.initials: AG
authors.lastname: Iyevleva
authors.forename: Elena V
authors.initials: EV
authors.lastname: Chekmariova
authors.forename: Konstantin G
authors.initials: KG
authors.lastname: Buslov
authors.forename: Evgeny S
authors.initials: ES
authors.lastname: Shilov
authors.forename: Alexandr V
authors.initials: AV
authors.lastname: Togo
authors.forename: Elena M
authors.initials: EM
authors.lastname: Bit-Sava
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; D019313:BRCA1 Protein / Q000235:genetics*; D001483:Base Sequence; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D064447:Checkpoint Kinase 2; D005260:Female; D018703:Founder Effect; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012426:Russia / Q000453:epidemiology
chemical_list: D019313:BRCA1 Protein; D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins; D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases