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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.

Reference list

1. Balanovsky O., Rootsi S., Pshenichnov A., Kivisild T., Churnosov M., Evseeva I., Pocheshkhova E., Boldyreva M., Yankovsky N., Balanovska E., Villems R. Two sources of the Russian patrilineal heritage in their Eurasian context // Am. J. Hum. Genet. – 2008. – Vol. 82. – P.236-50.


2. Ferla R., Calo V., Cascio S., Rinaldi G., Badalamenti G., Carreca I., Surmacz E., Colucci G., Bazan V., Russo A.. Founder mutations in BRCA1 and BRCA2 genes // Ann. Oncol. –2007. – Vol.18. (Suppl 6) – P.93-98.


3. Iyevleva A.G., Suspitsin E.N., Kroeze K., Gorodnova T.V., Sokolenko A.P., Buslov K.G., Voskresenskiy D.A., Togo A.V., Kovalenko S.P., Stoep N., Devilee P., Imyanitov E.N. Non-founder BRCA1 mutations in Russian breast cancer patients // Cancer Lett. – 2010. – Vol.298. – P.258-63.


4. Sokolenko A.P., Rozanov M.E., Mitiushkina N.V., Sherina N.Y., Iyevleva A.G., Chekmariova E.V., Buslov K.G., Shilov E.S., Togo A.V., Bit-Sava E.M., Voskresenskiy D.A., Chagunava O.L., et al. Founder mutations in early-onset, familial and bilateral breast cancer patients from Russia. // Fam. Cancer – 2007. – Vol.6. – P.281-286.


5. Grudinina N.A., Golubkov V.I., Tikhomirova O.S., Brezhneva T.V., Hanson K.P., Vasilyev V.B., Mandelshtam M.Y., Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg // Russ. J. Genet. – 2005. – Vol.41. – P.318-322.


6. Suspitsin E.N., Sherina N.Y., Ponomariova D.N., Sokolenko A.P., Iyevleva A.G., Gorodnova T.V., Zaitseva O.A., Yatsuk O.S., Togo A.V., Tkachenko N.N., Shiyanov G.A., Lobeiko O.S., Krylova N.Y., Matsko D.E., Maximov S.Y., Urmancheyeva A.F., Porhanova NV, Imyanitov E.N. High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients // Hered. Cancer. Clin. Pract. – 2009. – Vol. 7. – P.5.


7. Tereschenko I.V., Basham V.M., Ponder B.A., Pharoah P.D. BRCA1 and BRCA2 mutations in Russian familial breast cancer // Hum. Mutat. – 2002. Vol.19. – P.184.


8. Buslov K.G., Iyevleva A.G., Chekmariova E.V., Suspitsin E.N., Togo A.V., Kuligina E.Sh., Sokolenko A.P., Matsko D.E., Turkevich E.A., Lazareva Y.R., Chagunava O.L., Bit-Sava E.M., Semiglazov V.F., Devilee P., Cornelisse C., Hanson K.P., Imyanitov E.N. NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia // Int. J. Cancer. – 2005. – Vol.114. – P.585-589.


9. Chekmariova E.V., Sokolenko A.P., Buslov K.G., Iyevleva A.G., Ulibina Y.M., Rozanov M.E., Mitiushkina N.V., Togo A.V., Matsko D.E., Voskresenskiy D.A., Chagunava O.L., Devilee P., Cornelisse C., Semiglazov V.F., Imyanitov E.N. CHEK2 1100delC mutation is frequent among Russian breast cancer patients // Breast. Cancer. Res. Treat. – 2006. – Vol.100. – P.99-102.


10. Kapranov N.I., Radionovich A.M., Kashirskaya N.U. i dr. Mykoviscidoz: sovremennie aspekti diagnostiki i lecheniya // Klinicist. – 2006. – № 4. – S. 42 –51.


11. Tolstova V.D., Kashirskaya N.U., Kapranov N.I. Massovii skrining novorojdennih na mykoviscidoz v Rossii // Farmateka. – 2008. – №1. – S.1–5.


12. Potapova O.U. Molekylyarno-geneticheskii analiz kistoznogo fibroza v Rossii: avtoref. diss. … kand. biol. nayk. – S.-Peterbyrg: NIIEM RAMN. -1994.-21 s.


13. Ivashenko T.E., Baranov V.S. Biohimicheskie i molekylyarno-geneticheskie osnovi patogeneza mykoviscidoza. – SPb.: Intermedika, 2002 –256s.


14. Gyrina, I.V. Chastota viyavleniya mytacii delF508 gena mykoviscidoza v popylyacii goroda Novosibirska i ee svyaz s razlichnimi vidami patologii // Bulleten Sibirskogo otdeleniya RAMN. – 2006. – Vip.4(122). – S. 141-142.


15. Zinchenko R.A., Elchinova G.I., Galkina V.A. i dr. Differenciaciya etnicheskih grypp Rossii po genam nasledstvennih boleznei // Med. genetika. – 2007. – T. 6, №2 (56). – S. 29–37.


16. Anichkina A.A., Gavriluk A.P., Tverskaya S.M., Polyakov A.V. Analiz naibolee chasto vstrechaushihsya mytacii v gene fenilalaningidroksilazi y bolnih fenilketonyriei // Med. genetika. – 2003. – T.2, №4. – S.175-181.


17. Petersen M., Willems B.P. Non-syndromic, autosomal-recessive deafness // Clin. Genet. – 2006. – Vol. 69. – P.371-392.


18. Tavartkiladze G.A., Polyakov A.V., Markova T.G., Lalayanc M.R., Bliznec E.A. geneticheskii skrining naryshenii slyha y novorojdennih, sochetannii s aydiologicheskim skriningom // Vestn. otorinolar. – 2010. – №.3. – S.15-18.


19.Jyravskii S.G., Taraskina A.E., Sethiyaasiiliani T.K. i dr. Molekylyarno- geneticheskie aspekti prelingvalnoi sensonevralnoi tygoyhosti // Ros. otorinolar. –2004. –T.4, №11 – S.42-44.


20. The International Nijmegen Breakage Syndrome Study Group // Arch. Dis. Child. – 2000. – Vol. 82(5). – P. 400-406.


21. Varon R., Vissinga C., Platzer M. et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome // Cell. – 1998. – Vol. 93. – P. 467-476.


22. Hall J., Angèle S. Radiation, DNA damage and cancer // Mol. Med. Today. – 1999. – Vol. 5(4). – P.157-64.


23. Alessandra di Masi and Antonio Antoccia NBS1 Heterozygosity and Cancer Risk // Curr. Genomics. – 2008 – Vol. 9(4) – P. 275-281.


24. Resnick I.B, Kondratenko I., Pashanov E., Maschan A.A., et al. 657del5 Mutation in the Gene for Nijmegen Breakage Syndrome (NBS1) in a Cohort of Russian Children With Lymphoid Tissue Malignancies and Controls // Am. J. Med. Genet. – 2003. – Vol.120A. – P.174-179.


25. Kostyuchenko L., Makuch H., Kitsera N., et al. Nijmegen breakage syndrome in Ukraine: diagnostics and follow-up // Centr. Eur. J. Immunol. – 2009. – Vol. 34 (1) – P.46-52.


26. Cheung V.G., Ewens W.J. Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype // Genome Res. – 2006. – Vol. 16 (8). – P. 973-979.


27. Kremeneckaya O.S., Aseeva E.A., Neverova A.L., Domracheva E.V. Geneticheskaya predraspolojennost k leikozam, voznikaushim posle primeneniya protivoopyholevoi terapii: analiz dannih literatyri. // Klin. onkogematologiya – 2011. – №2. – S. 111-119.


28.Müllenbach R., Lagoda P.J., Welter C. An efficient salt-chloroform extraction of DNA from blood and tissues // Trends. Genet. – 1989. – V. 5. – P. 391.


29. Anichkina A., Kulenich T., Zinchenko S. et al. On the origin and frequency of the 35delG allele in GJB2-linked deafness in Europe // Eur. J. Hum. Genet. – 2001. – Vol.9. – P. 151.


30. Varon R., Seemanova E., Chrzanowska K., Hnateyko O., Piekutowska-Abramczuk D., Krajewska-Walasek M., Sykut-Cegielska J., Sperling K., Reis A. Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations // Eur. J. Hum. Genet. – 2000. – Vol. 8(11). – P.900-2.


31. Sokolenko A.P., Voskresenskiy D.A., Iyevleva A.G., Bit-Sava E.M., Gutkina N.I., Anisimenko M.S., Sherina N.Yu., Mitiushkina N.V., Ulibina Y.M., Yatsuk O.S., Zaitseva O.A., Suspitsin E.N., Togo A.V., Pospelov V.A., Kovalenko S.P., Semiglazov V.F., Imyanitov E.N. Large family with both parents affected by distinct BRCA1 mutations: implications for genetic testing // Hered. Cancer Clin. Pract. – 2009. – 7(1):2.