2009 Vienna - European Society of Human Genetics

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Cancer genetics (150 patients) and in healthy individuals (147 healthy control individuals). PCR single-strand conformation polymorphism technology and direct sequencing was performed. The frequency of genotype 01 in codon 594 (ACG → ACA), (G3242A), exon 8 was significantly higher in breast cancer patients (48.0%) than in control individuals (1.4%; P= 0.001). The allele 1 in codon 594 was significantly more common in breast cancer patients with age at menarche
Cancer genetics P06.139 the role of estrogen receptor alpha 5’ UtR methylation in pathogenesis of iranian patients with breast cancer H. Loghmani Khouzani 1,2 , M. H. Karbasian 3 , M. Noruzinia 1,2 , M. J. Rasaee 1 , P. Fatehmanesh 2 , M. Keyhanee 2 ; 1 Tarbiat Modares University, Tehran, Islamic Republic of Iran, 2 Sarem Research Center (SARC), Tehran, Islamic Republic of Iran, 3 Day hospital, Tehran, Islamic Republic of Iran. Introduction: Methylation pattern in promoter region of many genes are proved to be modified in cancers. 5’ UTR of estrogen receptor alpha has been shown to be differentially methylated in some patients with breast cancer and is believed to be a marker in early diagnosis, prognosis and treatment. On the other hand, known genetic causes of breast cancer like BRCA genes couldn’t explain early breast cancer in Iranian patients with breast and/or ovarian cancers. Our objective was to explore the role of epigenetic modification in ERα 5’ flanking region in Iranian patients with breast cancer. Materials and methods: Methylation Specific PCR on sodium bisulfate treated DNAs of peripheral blood and tissue samples from 35 patients with breast cancer were performed. Primers were selected to be specific for 2 known CpG islands in 5’UTR of ERα either for methylated or unmethylated status. Results: We found that in 53.85% of primary breast cancers CpG island I is methylated and in 80.77% CpG island II is methylated. The methylation status of these CpG islands in blood was 100% and 87.88% respectively. Discussion: We find a trend to methylation in breast tissue of Iranian patients with breast cancer. Our result show a methylation tendency in breast tumors compared to those reported in the literature. We found a high rate of methylation in peripheral blood which is in concordance to other studies. Our results are in concordance to the studies which showed a role of ER alpha methylation in pathogenesis of breast cancer. P06.140 Association of COX-2 -765G→C promoter variants with colon cancer from iran S. Basatvat1 , F. Biramijamal1 , A. Hossein-Nezhad1 , K. Shamimi2 , G. Irvanloo3 , M. Soltani1 , K. Akbari1 ; 1 2 NIGEB, Tehran, Islamic Republic of Iran, Dept. of Surgery, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran, 3Cancer Institute, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran. Cyclooxygenases-2 enzyme (COX-2) converts arachidonic acid to prostaglandins.The COX2 gene plays an important role in inflammation and carcinogenesis process. Previous studies indicated that polymorphism of this gene is associated with inflammatory diseases and several types of cancer. It has been shown that the COX-2 -765G > C promoter polymorphism have lower promoter activity and decreased COX-2 expression. In addition, genetic polymorphisms of the COX- 2 gene could alter the response to Nonsteroidal anti-inflammatory drugs (NSAIDs). The aim of this study is to determine the association of the COX2 gene polymorphism with development of colon cancer. Colorectal cancer is the third cause of the cancer-related death in the world. To understand the etiology of colon cancer in Iran, we initiated a study to investigate genetic polymorphism (-765G→C promoter variants) of Cyclooxygenase-2 (COX-2) among Iranian colon cancer patients, the COX-2 -765G > C promoter genotypes were determined by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) analysis in 16 Iranian colon cancer patients and 193 healthy individuals. The frequency of C allele was demonstrated more among colon cancer patients. Range of C allele frequency was 22.5% in healthy individuals to 50% in patients . Significance difference in COX-2 allele distribution was observed between patients and healthy individuals (P value
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Volume 17 Supplement 2 May 2009 www
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European Society of Human Genetics
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Table of Contents spoken Presentati
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Plenary Lectures PL2.2 massive para
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Concurrent Symposia s01.1 Genome va
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Concurrent Symposia Monogenic diabe
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Concurrent Symposia invariable in t
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Concurrent Symposia s11.2 clinical,
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Concurrent Symposia s13.2 A novel g
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Concurrent Sessions c01.1 mRNA-seq
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Concurrent Sessions velopmental del
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Concurrent Sessions development of
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Concurrent Sessions c04.6 Duplicati
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Concurrent Sessions genes to be rec
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Concurrent Sessions c07.5 Prenatal
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Concurrent Sessions with familial h
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Concurrent Sessions University of W
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Concurrent Sessions with this, we f
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Concurrent Sessions had immotile ci
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Concurrent Sessions abnormal glycos
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Concurrent Sessions showers’ and
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Concurrent Sessions partial gene de
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Concurrent Sessions leads to distre
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Genetic counseling Genetics educati
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Clinical genetics and Dysmorphology
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Cytogenetics P03. cytogenetics Recu
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Cytogenetics use of metaphase analy
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Cytogenetics 2: mother’s age < fa
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Cytogenetics P03.028 HLA B27 allele
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Cytogenetics karyotype revealed a p
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Cytogenetics drome is estimated at
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Cytogenetics P03.057 Pathological c
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Cytogenetics grandmother and 2 mate
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Cytogenetics method used to detect
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Cytogenetics P03.082 High-resolutio
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Cytogenetics All detected anomalies
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Cytogenetics somy for chromosome 2.
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Cytogenetics cially in chromosome 4
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Cytogenetics (59.390.122 to 62.021.
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Cytogenetics For further characteri
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Cytogenetics 9p duplication. This c
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Cytogenetics regions with mental /d
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Cytogenetics donation program of po
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Cytogenetics P03.165 interpretation
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Cytogenetics P03.174 Deletion of th
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Cytogenetics P03.183 An atypical 7q
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Cytogenetics spermia, 11 oligosperm
Page 149 and 150: Reproductive genetics and social fa
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Page 155 and 156: Reproductive genetics the 147 SC ch
Page 157 and 158: Prenatal and perinatal genetics P05
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Page 169 and 170: Prenatal and perinatal genetics P05
Page 171 and 172: Cancer genetics P06.005 tiling reso
Page 173 and 174: Cancer genetics tient group in whic
Page 175 and 176: Cancer genetics chronic inflammatio
Page 177 and 178: Cancer genetics licular thyroid can
Page 179 and 180: Cancer genetics also studied. In 31
Page 181 and 182: Cancer genetics tile polyposis. We
Page 183 and 184: Cancer genetics Upon recombinant ex
Page 185 and 186: Cancer genetics variant allele was
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Page 189 and 190: Cancer genetics tion (PAX5 and GATA
Page 191 and 192: Cancer genetics scribed underexpres
Page 193 and 194: Cancer genetics of the ZIC gene fam
Page 195 and 196: Cancer genetics Materials and metho
Page 197 and 198: Cancer genetics the past and it is
Page 199: Cancer genetics P06.130 spectrum an
Page 203 and 204: Cancer genetics and MSH2 germline m
Page 205 and 206: Cancer genetics P06.155 New roles f
Page 207 and 208: Cancer genetics screening was perfo
Page 209 and 210: Cancer genetics val (DFI) than pati
Page 211 and 212: Cancer genetics is hTERC gene ampli
Page 213 and 214: Cancer genetics on chromosome regio
Page 215 and 216: Cancer genetics preferentially dupl
Page 217 and 218: Cancer cytogenetics mutations in co
Page 219 and 220: Cancer cytogenetics P07.08 molecula
Page 221 and 222: Statistical genetics, includes Mapp
Page 235 and 236: Complex traits and polygenic disord
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Complex traits and polygenic disord
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Evolutionary and population genetic
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Genomics, Genomic technology and Ep
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Molecular basis of Mendelian disord
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Metabolic disorders P12.167 Pattern
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Metabolic disorders PKU. BH4 challe
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Metabolic disorders catepe Universi
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Metabolic disorders respectively. G
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Metabolic disorders enzymaticaly co
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Metabolic disorders Normal Affected
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Therapy for genetic disorders in th
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Therapy for genetic disorders P14.0
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Therapy for genetic disorders of me
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Laboratory and quality management P
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Laboratory and quality management T
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Molecular and biochemical basis of
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Genetic analysis, linkage ans assoc
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Author Index Allanson, J.: P02.140
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Author Index 0 Barbacioru, C.: C01.
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Author Index 0 Bonneau, D.: C16.2,
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Author Index 0 Chakravarti, A.: C13
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Author Index 0 Dan, D.: P01.39, P14
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Author Index 0 Duskova, J.: P06.012
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Author Index Franke, A.: P09.056 Fr
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Author Index Grasso, R.: P02.025 Gr
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Author Index Holder-Espinasse, M.:
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Author Index Jurkiewicz, E.: C14.5
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Author Index Kooper, A. J. A.: P05.
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Author Index Li, K. J.: P11.086 Li,
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Author Index Martinet, D.: P03.095
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Author Index Moorman, A. F. M.: P16
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Author Index P10.57, P10.82 Oguzkan
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Author Index P09.054, P09.085, P09.
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Author Index P16.01 Renieri, A.: P0
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Author Index Santorelli, F.: P08.55
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Author Index Sinke, R. J.: P02.020
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Author Index Taheri, M.: P04.33, P0
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Author Index Valentino, P.: P02.064
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Author Index Wiemer-Kruel, A.: P14.
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Keyword Index 1 10q22 deletions: P0
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Keyword Index autosomal dominant re
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Keyword Index CLA: P06.073 CLCN1 ge
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Keyword Index DMD: P16.40, P16.41,
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Keyword Index gene networks: S12.2
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Keyword Index hydrocephaly: P05.11
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Keyword Index malignant hyperthermi
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Keyword Index NAT2: P12.118 natridi
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Keyword Index Polymalformations: P0
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Keyword Index Sardinia: C09.6 Sardi
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Keyword Index TNFalpha: P08.61, P09
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2009 Vienna - European Society of Human Genetics

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