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Vol. 12, Art. 108 (pp. 1329-1341)    |    2011       

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BRCA1, CHEK2, NBS1, CFTR, PAH and СX26 founder mutations in healthy female residents of St. Petersburg

1- St.-Petersburg pediatric medical academy, St.-Petersburg, Russia

2- Russian Research Institute for Hematology and Transfusiology, St.-Petersburg, Russia

3- N.N. Petrov Institute of Oncology, St.-Petersburg, Russia

4- St.-Petersburg Medical Academy for Postgraduate Studies, St.-Petersburg, Russia

Brief summary

400 healthy female residents of St. Petersburg were analyzed for the presence of frequent founder mutations (BRCA1 5382insC, CHEK2 1100delC, NBS1 657del5, CFTR del508F, PAH R408W and СX26 35delG). Inherited gene defects were detected in 20 (5%) women. BRCA1 5382insC allele was not detected in this sample. CFTR del508F mutation was identified in 9/400 (2,25%) cases, СX26 35delG in 6/400 (1,5%), PAH R408W in 3/400 (0,75%), NBS1 657del5 in 2/400 (0,5%), and CHEK2 1100delC in 1/400 (0,25%). These results may warrant screening for recurrent mutations for cystic fibrosis (CFTR del508F), phenylketonuria (PAH R408W), non-syndromic hearing loss (СX26 35delG), Nijmegen breakage syndrome (NBS1 657del5), while the testing for hereditary breast cancer genes (BRCA1 5382insC, CHEK2 1100delC) can be restricted by women at-risk.


Key words

heterozygous carriers, phenylketonuria, cystic fibrosis, hereditary breast cancer, hereditary ovarian cancer, non-syndromic hearing loss, Nijmegen breakage syndrome.

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Журнал основан 16 ноября 2000г.
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