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Title of Journal: Breast Cancer Res Treat

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Abbravation: Breast Cancer Research and Treatment

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Kluwer Academic Publishers-Plenum Publishers

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DOI

10.1002/andp.19123431008

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1573-7217

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A deletion in CHEK2 of 5395 bp predisposes to bre

Authors: Cezary Cybulski Dominika Wokołorczyk Tomasz Huzarski Tomasz Byrski Jacek Gronwald Bohdan Górski Tadeusz Dębniak Bartłomiej Masojć Anna Jakubowska Thierry van de Wetering Steven A Narod Jan Lubiński
Publish Date: 2006/08/08
Volume: 102, Issue: 1, Pages: 119-122
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Abstract

To investigate the contribution of a founder deletion in the CHEK2 gene to the burden of breast cancer in Poland we studied 4454 women with breast cancer and 5496 population controls Cases and controls were genotyped for the presence of a 5395 bp founder deletion that removes exons 9 and 10 of the CHEK2 gene This deletion has recently been described in a Czech and Slovak population The cases and controls had previously been tested for two proteintruncating IVS2 + 1G  A and 1100delC and one missense CHEK2 mutation I157T which are characteristic for the population The exons 9 and 10 deletion was present in 04 of the controls in 10 19 of 1978 of unselected breast cancer cases OR=22 95 CI 12–40 p = 001 and in 09 28 of 3228 of the earlyonset cases OR=20 95 CI 13–18 p = 002 One of the three truncating CHEK2 mutations del5395 1100delC or IVS2 + 1G  A was seen in 101 of 4454 23 cases and in 58 of 5496 controls 11 OR=22 95 CI 16–30 p  00001 A 5395 bp founder deletion contributes to the burden of breast cancer in Poland The deletion was present in 09 of the women with breast cancer diagnosed under the age of 51 and in 09 of women with breast cancer over the age of 50 This is one of the most common proteintruncating CHEK2 variants in Poland Overall 2 of all breast cancers in Poland can be attributed to one of three proteintruncating mutatiosns in CHEK2We thank the following people who helped in this study Uciński M Grzybowska E Lange D Mika B Mackiewicz A Karczewska A Breborowicz J Lamperska K Stawicka M GozdeckaGrodecka S Bębenek M Sorokin D Wojnar A Haus O Sir J Mierzwa T Niepsuj S Gugała K Goźdź S Sygut J KozakKlonowska B Musiatowicz B Posmyk M Kordek R Morawiec M Zambrano O Waśko B Fudali L Surdyka D Urbański K Mituś J Ryś J Szwiec M Rozmiarek A Dziuba I Wandzel P Wiśniowski R Szczylik C Kozak A Kozłowski A Czajka R Czeszyńska B Dębniak B Brembowicz G Kalużewski B Witek A Skret A Lenczewski A Wonton J and Gibaszek R

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