Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia.
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.
Sokolenko
Anna P
AP
N.N. Petrov Institute of Oncology, Pesochny-2, St.-Petersburg 197758, Russia.
Rozanov
Maxim E
ME
Mitiushkina
Natalia V
NV
Sherina
Natalia Yu
NY
Iyevleva
Aglaya G
AG
Chekmariova
Elena V
EV
Buslov
Konstantin G
KG
Shilov
Evgeny S
ES
Togo
Alexandr V
AV
Bit-Sava
Elena M
EM
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; 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
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