Tchatchou, Sandrine and Riedel, Angela and Lyer, Stefan and Schmutzhard, Julia and Strobel-Freidekind, Olga and Gronert-Sum, Sabine and Mietag, Carola and D'Amato, Mauro and Schlehe, Bettina and Hemminki, Kari and Sutter, Christian and Ditsch, Nina and Blackburn, Anneke and Hill, Linda Zhai and Jerry, D. Joseph and Bugert, Peter and Weber, Bernhard H. F. and Niederacher, Dieter and Arnold, Norbert and Varon-Mateeva, Raymonda and Wappenschmidt, Barbara and Schmutzler, Rita K. and Engel, Christoph and Meindl, Alfons and Bartram, Claus R. and Mollenhauer, Jan and Burwinkel, Barbara (2010) Identification of a DMBT1 Polymorphism Associated with Increased Breast Cancer Risk and Decreased Promoter Activity. HUMAN MUTATION, 31 (1). pp. 60-66. ISSN 1059-7794,
Full text not available from this repository. (Request a copy)Abstract
According to present estimations, the unfavorable combination of alleles with low penetrance but high prevalence in the population might account for the major part of hereditary breast cancer risk. Deleted in Malignant Brain Tumors 1 (DMBT1) has been proposed as a tumor suppressor for breast cancer and other cancer types. Genomewide mapping in mice further identified Dmbt1 as a potential modulator of breast cancer risk. Here, we report the association of two frequent and linked single-nucleotide polymorphisms (SNPs) with increased breast cancer risk in women above the age of 60 years: DMBT1 c.-93C>T, rs2981745, located in the DMBT1 promoter; and DMBT1 c.124A>C, p.Thr42Pro, rs11523871 (odds ratio [OR] = 1.66, 95% confidence interval [CI] = 1.21-2.29, P = 0.0017; and OR = 1.66; 95% CI = 1.21-2.28, P = 0.0016, respectively), based on 1, 195 BRCA1/2 mutation-negative German breast cancer families and 1,466 unrelated German controls. Promoter studies in breast cancer cells demonstrate that the risk, increasing DMBT1 -93T allele displays significantly decreased promoter activity compared to the DMBT1 -93C allele, resulting in a loss of promoter activity. The data suggest that DMBT1 polymorphisms in the 5'-region are associated with increased breast cancer risk. In accordance with previous results, these data link decreased DMBT1 levels to breast cancer risk. Hum Mutat 31:60-66, 2010. (C) 2009 Wiley Liss, Inc.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | SALIVARY AGGLUTININ; EPITHELIAL-CELLS; OVARIAN-CANCER; IN-VIVO; GENE; SUSCEPTIBILITY; REGION; SUPERFAMILY; HAPLOTYPE; VARIANT; DMBT1 gene; DMBT1 polymorphisms; breast cancer risk; risk factor |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 17 Aug 2020 08:44 |
| Last Modified: | 17 Aug 2020 08:44 |
| URI: | https://pred.uni-regensburg.de/id/eprint/25471 |
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