Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity
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...
Ausführliche Beschreibung
Autor*in: |
Tchatchou, Sandrine - 1979- [verfasserIn] Riedel, Angela [verfasserIn] Lyer, Stefan Heinz [verfasserIn] Schmutzhard, Julia [verfasserIn] Strobel-Freidekind, Olga [verfasserIn] Gronert-Sum, Sabine [verfasserIn] Mietag, Carola [verfasserIn] D'Amato, Mauro [verfasserIn] Schlehe, Bettina - 1974- [verfasserIn] Hemminki, Kari - 1947- [verfasserIn] Sutter, Christian [verfasserIn] Ditsch, Nina [verfasserIn] Blackburn, Anneke [verfasserIn] Hill, Linda Zhai [verfasserIn] Jerry, D. Joseph [verfasserIn] Bugert, Peter - 1964- [verfasserIn] Weber, Bernhard H. F. [verfasserIn] Niederacher, Dieter [verfasserIn] Arnold, Norbert [verfasserIn] Varon-Mateeva, Raymonda [verfasserIn] Wappenschmidt, Barbara [verfasserIn] Schmutzler, Rita K. [verfasserIn] Engel, Christoph [verfasserIn] Meindl, Alfons [verfasserIn] Bartram, Claus R. - 1952- [verfasserIn] Mollenhauer, Jan [verfasserIn] Burwinkel, Barbara - 1969- [verfasserIn] |
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Format: |
E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2010 |
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Schlagwörter: |
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Anmerkung: |
Erstmals am 14 October 2009 online veröffentlicht Gesehen am 26.10.2023 |
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Umfang: |
7 |
Übergeordnetes Werk: |
Enthalten in: Human mutation - London : Hindawi Limited, 1992, 31(2010), 1, Seite 60-66 |
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Übergeordnetes Werk: |
volume:31 ; year:2010 ; number:1 ; pages:60-66 ; extent:7 |
Links: |
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DOI / URN: |
10.1002/humu.21134 |
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Katalog-ID: |
1868088464 |
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245 | 1 | 0 | |a Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity |c Sandrine Tchatchou, Angela Riedel, Stefan Lyer, Julia Schmutzhard, Olga Strobel-Freidekind, Sabine Gronert-Sum, Carola Mietag, Mauro D'Amato, Bettina Schlehe, Kari Hemminki, Christian Sutter, Nina Ditsch, Anneke Blackburn, Linda Zhai Hill, D. Joseph Jerry, Peter Bugert, Bernhard H. F. Weber, Dieter Niederacher, Norbert Arnold, Raymonda Varon-Mateeva, Barbara Wappenschmidt, Rita K. Schmutzler, Christoph Engel, Alfons Meindl, Claus R. Bartram, Jan Mollenhauer, and Barbara Burwinkel |
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520 | |a 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 30:1-7, 2009. © 2009 Wiley-Liss, Inc. | ||
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700 | 1 | |a Weber, Bernhard H. F. |e verfasserin |4 aut | |
700 | 1 | |a Niederacher, Dieter |e verfasserin |4 aut | |
700 | 1 | |a Arnold, Norbert |e verfasserin |4 aut | |
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10.1002/humu.21134 doi (DE-627)1868088464 (DE-599)KXP1868088464 (OCoLC)1425872992 DE-627 ger DE-627 rda eng Tchatchou, Sandrine 1979- verfasserin (DE-588)138116601 (DE-627)696352168 (DE-576)306572095 aut Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity Sandrine Tchatchou, Angela Riedel, Stefan Lyer, Julia Schmutzhard, Olga Strobel-Freidekind, Sabine Gronert-Sum, Carola Mietag, Mauro D'Amato, Bettina Schlehe, Kari Hemminki, Christian Sutter, Nina Ditsch, Anneke Blackburn, Linda Zhai Hill, D. Joseph Jerry, Peter Bugert, Bernhard H. F. Weber, Dieter Niederacher, Norbert Arnold, Raymonda Varon-Mateeva, Barbara Wappenschmidt, Rita K. Schmutzler, Christoph Engel, Alfons Meindl, Claus R. Bartram, Jan Mollenhauer, and Barbara Burwinkel 2010 7 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Erstmals am 14 October 2009 online veröffentlicht Gesehen am 26.10.2023 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 30:1-7, 2009. © 2009 Wiley-Liss, Inc. breast cancer risk DMBT1 gene DMBT1 polymorphisms risk factor Riedel, Angela verfasserin aut Lyer, Stefan Heinz verfasserin (DE-588)1287304966 (DE-627)1843829398 aut Schmutzhard, Julia verfasserin (DE-588)1307379141 (DE-627)1868090884 aut Strobel-Freidekind, Olga verfasserin (DE-588)133196445 (DE-627)538270233 (DE-576)29968685X aut Gronert-Sum, Sabine verfasserin aut Mietag, Carola verfasserin aut D'Amato, Mauro verfasserin aut Schlehe, Bettina 1974- verfasserin (DE-588)122373448 (DE-627)081905998 (DE-576)293242631 aut Hemminki, Kari 1947- verfasserin (DE-588)1150735872 (DE-627)1010964402 (DE-576)172043751 aut Sutter, Christian verfasserin (DE-588)1067529160 (DE-627)818862068 (DE-576)42671993X aut Ditsch, Nina verfasserin aut Blackburn, Anneke verfasserin aut Hill, Linda Zhai verfasserin aut Jerry, D. Joseph verfasserin aut Bugert, Peter 1964- verfasserin (DE-588)1025332342 (DE-627)722074018 (DE-576)370212169 aut Weber, Bernhard H. F. verfasserin aut Niederacher, Dieter verfasserin aut Arnold, Norbert verfasserin aut Varon-Mateeva, Raymonda verfasserin aut Wappenschmidt, Barbara verfasserin aut Schmutzler, Rita K. verfasserin aut Engel, Christoph verfasserin aut Meindl, Alfons verfasserin aut Bartram, Claus R. 1952- verfasserin (DE-588)139758518 (DE-627)613089502 (DE-576)312997159 aut Mollenhauer, Jan verfasserin (DE-588)1076883605 (DE-627)835430960 (DE-576)179125834 aut Burwinkel, Barbara 1969- verfasserin (DE-588)120685760 (DE-627)704924005 (DE-576)292337752 aut Enthalten in Human mutation London : Hindawi Limited, 1992 31(2010), 1, Seite 60-66 Online-Ressource (DE-627)306586193 (DE-600)1498165-8 (DE-576)250043572 1098-1004 nnns volume:31 year:2010 number:1 pages:60-66 extent:7 https://doi.org/10.1002/humu.21134 Verlag Resolving-System lizenzpflichtig Volltext https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.21134 Verlag lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 31 2010 1 60-66 7 2013 01 DE-16-250 4398054529 00 --%%-- --%%-- --%%-- --%%-- l01 26-10-23 2013 01 DE-16-250 00 s hd2010 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_27 2013 01 DE-16-250 03 s s_7 2013 01 DE-16-250 04 p (DE-627)1497937221 Tchatchou, Sandrine 2013 01 DE-16-250 04 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_1 2013 01 DE-16-250 05 p (DE-627)1843829770 Lyer, Stefan Heinz 2013 01 DE-16-250 05 k (DE-627)1416822720 Extern 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_3 2013 01 DE-16-250 06 p (DE-627)1868093697 Schmutzhard, Julia 2013 01 DE-16-250 06 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 06 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 06 s pos_4 2013 01 DE-16-250 07 p (DE-627)1697028322 Strobel-Freidekind, Olga 2013 01 DE-16-250 07 k (DE-627)1416822720 Extern 2013 01 DE-16-250 07 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 07 s pos_5 2013 01 DE-16-250 08 p (DE-627)1450004040 Schlehe, Bettina 2013 01 DE-16-250 08 k (DE-627)1416740961 Universitäts-Frauenklinik 2013 01 DE-16-250 08 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 08 s pos_9 2013 01 DE-16-250 09 p (DE-627)1567234704 Hemminki, Kari 2013 01 DE-16-250 09 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 09 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 09 s pos_10 2013 01 DE-16-250 10 p (DE-627)1496707400 Sutter, Christian 2013 01 DE-16-250 10 k (DE-627)1416741429 Institut für Humangenetik 2013 01 DE-16-250 10 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 10 s pos_11 2013 01 DE-16-250 11 p (DE-627)1440212716 Bugert, Peter 2013 01 DE-16-250 11 k (DE-627)1416467254 Medizinische Fakultät Mannheim 2013 01 DE-16-250 11 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 11 s pos_16 2013 01 DE-16-250 12 p (DE-627)1437187943 Bartram, Claus R. 2013 01 DE-16-250 12 k (DE-627)1416741429 Institut für Humangenetik 2013 01 DE-16-250 12 k (DE-627)1416740686 Klinikum der Universität Heidelberg 2013 01 DE-16-250 12 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 12 s pos_25 2013 01 DE-16-250 13 p (DE-627)151576480X Mollenhauer, Jan 2013 01 DE-16-250 13 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 13 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 13 s pos_26 2013 01 DE-16-250 14 p (DE-627)1475408374 Burwinkel, Barbara 2013 01 DE-16-250 14 k (DE-627)1416740961 Universitäts-Frauenklinik 2013 01 DE-16-250 14 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 14 s pos_27 |
spelling |
10.1002/humu.21134 doi (DE-627)1868088464 (DE-599)KXP1868088464 (OCoLC)1425872992 DE-627 ger DE-627 rda eng Tchatchou, Sandrine 1979- verfasserin (DE-588)138116601 (DE-627)696352168 (DE-576)306572095 aut Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity Sandrine Tchatchou, Angela Riedel, Stefan Lyer, Julia Schmutzhard, Olga Strobel-Freidekind, Sabine Gronert-Sum, Carola Mietag, Mauro D'Amato, Bettina Schlehe, Kari Hemminki, Christian Sutter, Nina Ditsch, Anneke Blackburn, Linda Zhai Hill, D. Joseph Jerry, Peter Bugert, Bernhard H. F. Weber, Dieter Niederacher, Norbert Arnold, Raymonda Varon-Mateeva, Barbara Wappenschmidt, Rita K. Schmutzler, Christoph Engel, Alfons Meindl, Claus R. Bartram, Jan Mollenhauer, and Barbara Burwinkel 2010 7 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Erstmals am 14 October 2009 online veröffentlicht Gesehen am 26.10.2023 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 30:1-7, 2009. © 2009 Wiley-Liss, Inc. breast cancer risk DMBT1 gene DMBT1 polymorphisms risk factor Riedel, Angela verfasserin aut Lyer, Stefan Heinz verfasserin (DE-588)1287304966 (DE-627)1843829398 aut Schmutzhard, Julia verfasserin (DE-588)1307379141 (DE-627)1868090884 aut Strobel-Freidekind, Olga verfasserin (DE-588)133196445 (DE-627)538270233 (DE-576)29968685X aut Gronert-Sum, Sabine verfasserin aut Mietag, Carola verfasserin aut D'Amato, Mauro verfasserin aut Schlehe, Bettina 1974- verfasserin (DE-588)122373448 (DE-627)081905998 (DE-576)293242631 aut Hemminki, Kari 1947- verfasserin (DE-588)1150735872 (DE-627)1010964402 (DE-576)172043751 aut Sutter, Christian verfasserin (DE-588)1067529160 (DE-627)818862068 (DE-576)42671993X aut Ditsch, Nina verfasserin aut Blackburn, Anneke verfasserin aut Hill, Linda Zhai verfasserin aut Jerry, D. Joseph verfasserin aut Bugert, Peter 1964- verfasserin (DE-588)1025332342 (DE-627)722074018 (DE-576)370212169 aut Weber, Bernhard H. F. verfasserin aut Niederacher, Dieter verfasserin aut Arnold, Norbert verfasserin aut Varon-Mateeva, Raymonda verfasserin aut Wappenschmidt, Barbara verfasserin aut Schmutzler, Rita K. verfasserin aut Engel, Christoph verfasserin aut Meindl, Alfons verfasserin aut Bartram, Claus R. 1952- verfasserin (DE-588)139758518 (DE-627)613089502 (DE-576)312997159 aut Mollenhauer, Jan verfasserin (DE-588)1076883605 (DE-627)835430960 (DE-576)179125834 aut Burwinkel, Barbara 1969- verfasserin (DE-588)120685760 (DE-627)704924005 (DE-576)292337752 aut Enthalten in Human mutation London : Hindawi Limited, 1992 31(2010), 1, Seite 60-66 Online-Ressource (DE-627)306586193 (DE-600)1498165-8 (DE-576)250043572 1098-1004 nnns volume:31 year:2010 number:1 pages:60-66 extent:7 https://doi.org/10.1002/humu.21134 Verlag Resolving-System lizenzpflichtig Volltext https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.21134 Verlag lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 31 2010 1 60-66 7 2013 01 DE-16-250 4398054529 00 --%%-- --%%-- --%%-- --%%-- l01 26-10-23 2013 01 DE-16-250 00 s hd2010 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_27 2013 01 DE-16-250 03 s s_7 2013 01 DE-16-250 04 p (DE-627)1497937221 Tchatchou, Sandrine 2013 01 DE-16-250 04 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_1 2013 01 DE-16-250 05 p (DE-627)1843829770 Lyer, Stefan Heinz 2013 01 DE-16-250 05 k (DE-627)1416822720 Extern 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_3 2013 01 DE-16-250 06 p (DE-627)1868093697 Schmutzhard, Julia 2013 01 DE-16-250 06 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 06 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 06 s pos_4 2013 01 DE-16-250 07 p (DE-627)1697028322 Strobel-Freidekind, Olga 2013 01 DE-16-250 07 k (DE-627)1416822720 Extern 2013 01 DE-16-250 07 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 07 s pos_5 2013 01 DE-16-250 08 p (DE-627)1450004040 Schlehe, Bettina 2013 01 DE-16-250 08 k (DE-627)1416740961 Universitäts-Frauenklinik 2013 01 DE-16-250 08 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 08 s pos_9 2013 01 DE-16-250 09 p (DE-627)1567234704 Hemminki, Kari 2013 01 DE-16-250 09 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 09 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 09 s pos_10 2013 01 DE-16-250 10 p (DE-627)1496707400 Sutter, Christian 2013 01 DE-16-250 10 k (DE-627)1416741429 Institut für Humangenetik 2013 01 DE-16-250 10 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 10 s pos_11 2013 01 DE-16-250 11 p (DE-627)1440212716 Bugert, Peter 2013 01 DE-16-250 11 k (DE-627)1416467254 Medizinische Fakultät Mannheim 2013 01 DE-16-250 11 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 11 s pos_16 2013 01 DE-16-250 12 p (DE-627)1437187943 Bartram, Claus R. 2013 01 DE-16-250 12 k (DE-627)1416741429 Institut für Humangenetik 2013 01 DE-16-250 12 k (DE-627)1416740686 Klinikum der Universität Heidelberg 2013 01 DE-16-250 12 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 12 s pos_25 2013 01 DE-16-250 13 p (DE-627)151576480X Mollenhauer, Jan 2013 01 DE-16-250 13 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 13 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 13 s pos_26 2013 01 DE-16-250 14 p (DE-627)1475408374 Burwinkel, Barbara 2013 01 DE-16-250 14 k (DE-627)1416740961 Universitäts-Frauenklinik 2013 01 DE-16-250 14 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 14 s pos_27 |
allfields_unstemmed |
10.1002/humu.21134 doi (DE-627)1868088464 (DE-599)KXP1868088464 (OCoLC)1425872992 DE-627 ger DE-627 rda eng Tchatchou, Sandrine 1979- verfasserin (DE-588)138116601 (DE-627)696352168 (DE-576)306572095 aut Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity Sandrine Tchatchou, Angela Riedel, Stefan Lyer, Julia Schmutzhard, Olga Strobel-Freidekind, Sabine Gronert-Sum, Carola Mietag, Mauro D'Amato, Bettina Schlehe, Kari Hemminki, Christian Sutter, Nina Ditsch, Anneke Blackburn, Linda Zhai Hill, D. Joseph Jerry, Peter Bugert, Bernhard H. F. Weber, Dieter Niederacher, Norbert Arnold, Raymonda Varon-Mateeva, Barbara Wappenschmidt, Rita K. Schmutzler, Christoph Engel, Alfons Meindl, Claus R. Bartram, Jan Mollenhauer, and Barbara Burwinkel 2010 7 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Erstmals am 14 October 2009 online veröffentlicht Gesehen am 26.10.2023 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 30:1-7, 2009. © 2009 Wiley-Liss, Inc. breast cancer risk DMBT1 gene DMBT1 polymorphisms risk factor Riedel, Angela verfasserin aut Lyer, Stefan Heinz verfasserin (DE-588)1287304966 (DE-627)1843829398 aut Schmutzhard, Julia verfasserin (DE-588)1307379141 (DE-627)1868090884 aut Strobel-Freidekind, Olga verfasserin (DE-588)133196445 (DE-627)538270233 (DE-576)29968685X aut Gronert-Sum, Sabine verfasserin aut Mietag, Carola verfasserin aut D'Amato, Mauro verfasserin aut Schlehe, Bettina 1974- verfasserin (DE-588)122373448 (DE-627)081905998 (DE-576)293242631 aut Hemminki, Kari 1947- verfasserin (DE-588)1150735872 (DE-627)1010964402 (DE-576)172043751 aut Sutter, Christian verfasserin (DE-588)1067529160 (DE-627)818862068 (DE-576)42671993X aut Ditsch, Nina verfasserin aut Blackburn, Anneke verfasserin aut Hill, Linda Zhai verfasserin aut Jerry, D. Joseph verfasserin aut Bugert, Peter 1964- verfasserin (DE-588)1025332342 (DE-627)722074018 (DE-576)370212169 aut Weber, Bernhard H. F. verfasserin aut Niederacher, Dieter verfasserin aut Arnold, Norbert verfasserin aut Varon-Mateeva, Raymonda verfasserin aut Wappenschmidt, Barbara verfasserin aut Schmutzler, Rita K. verfasserin aut Engel, Christoph verfasserin aut Meindl, Alfons verfasserin aut Bartram, Claus R. 1952- verfasserin (DE-588)139758518 (DE-627)613089502 (DE-576)312997159 aut Mollenhauer, Jan verfasserin (DE-588)1076883605 (DE-627)835430960 (DE-576)179125834 aut Burwinkel, Barbara 1969- verfasserin (DE-588)120685760 (DE-627)704924005 (DE-576)292337752 aut Enthalten in Human mutation London : Hindawi Limited, 1992 31(2010), 1, Seite 60-66 Online-Ressource (DE-627)306586193 (DE-600)1498165-8 (DE-576)250043572 1098-1004 nnns volume:31 year:2010 number:1 pages:60-66 extent:7 https://doi.org/10.1002/humu.21134 Verlag Resolving-System lizenzpflichtig Volltext https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.21134 Verlag lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 31 2010 1 60-66 7 2013 01 DE-16-250 4398054529 00 --%%-- --%%-- --%%-- --%%-- l01 26-10-23 2013 01 DE-16-250 00 s hd2010 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_27 2013 01 DE-16-250 03 s s_7 2013 01 DE-16-250 04 p (DE-627)1497937221 Tchatchou, Sandrine 2013 01 DE-16-250 04 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_1 2013 01 DE-16-250 05 p (DE-627)1843829770 Lyer, Stefan Heinz 2013 01 DE-16-250 05 k (DE-627)1416822720 Extern 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_3 2013 01 DE-16-250 06 p (DE-627)1868093697 Schmutzhard, Julia 2013 01 DE-16-250 06 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 06 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 06 s pos_4 2013 01 DE-16-250 07 p (DE-627)1697028322 Strobel-Freidekind, Olga 2013 01 DE-16-250 07 k (DE-627)1416822720 Extern 2013 01 DE-16-250 07 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 07 s pos_5 2013 01 DE-16-250 08 p (DE-627)1450004040 Schlehe, Bettina 2013 01 DE-16-250 08 k (DE-627)1416740961 Universitäts-Frauenklinik 2013 01 DE-16-250 08 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 08 s pos_9 2013 01 DE-16-250 09 p (DE-627)1567234704 Hemminki, Kari 2013 01 DE-16-250 09 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 09 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 09 s pos_10 2013 01 DE-16-250 10 p (DE-627)1496707400 Sutter, Christian 2013 01 DE-16-250 10 k (DE-627)1416741429 Institut für Humangenetik 2013 01 DE-16-250 10 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 10 s pos_11 2013 01 DE-16-250 11 p (DE-627)1440212716 Bugert, Peter 2013 01 DE-16-250 11 k (DE-627)1416467254 Medizinische Fakultät Mannheim 2013 01 DE-16-250 11 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 11 s pos_16 2013 01 DE-16-250 12 p (DE-627)1437187943 Bartram, Claus R. 2013 01 DE-16-250 12 k (DE-627)1416741429 Institut für Humangenetik 2013 01 DE-16-250 12 k (DE-627)1416740686 Klinikum der Universität Heidelberg 2013 01 DE-16-250 12 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 12 s pos_25 2013 01 DE-16-250 13 p (DE-627)151576480X Mollenhauer, Jan 2013 01 DE-16-250 13 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 13 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 13 s pos_26 2013 01 DE-16-250 14 p (DE-627)1475408374 Burwinkel, Barbara 2013 01 DE-16-250 14 k (DE-627)1416740961 Universitäts-Frauenklinik 2013 01 DE-16-250 14 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 14 s pos_27 |
allfieldsGer |
10.1002/humu.21134 doi (DE-627)1868088464 (DE-599)KXP1868088464 (OCoLC)1425872992 DE-627 ger DE-627 rda eng Tchatchou, Sandrine 1979- verfasserin (DE-588)138116601 (DE-627)696352168 (DE-576)306572095 aut Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity Sandrine Tchatchou, Angela Riedel, Stefan Lyer, Julia Schmutzhard, Olga Strobel-Freidekind, Sabine Gronert-Sum, Carola Mietag, Mauro D'Amato, Bettina Schlehe, Kari Hemminki, Christian Sutter, Nina Ditsch, Anneke Blackburn, Linda Zhai Hill, D. Joseph Jerry, Peter Bugert, Bernhard H. F. Weber, Dieter Niederacher, Norbert Arnold, Raymonda Varon-Mateeva, Barbara Wappenschmidt, Rita K. Schmutzler, Christoph Engel, Alfons Meindl, Claus R. Bartram, Jan Mollenhauer, and Barbara Burwinkel 2010 7 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Erstmals am 14 October 2009 online veröffentlicht Gesehen am 26.10.2023 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 30:1-7, 2009. © 2009 Wiley-Liss, Inc. breast cancer risk DMBT1 gene DMBT1 polymorphisms risk factor Riedel, Angela verfasserin aut Lyer, Stefan Heinz verfasserin (DE-588)1287304966 (DE-627)1843829398 aut Schmutzhard, Julia verfasserin (DE-588)1307379141 (DE-627)1868090884 aut Strobel-Freidekind, Olga verfasserin (DE-588)133196445 (DE-627)538270233 (DE-576)29968685X aut Gronert-Sum, Sabine verfasserin aut Mietag, Carola verfasserin aut D'Amato, Mauro verfasserin aut Schlehe, Bettina 1974- verfasserin (DE-588)122373448 (DE-627)081905998 (DE-576)293242631 aut Hemminki, Kari 1947- verfasserin (DE-588)1150735872 (DE-627)1010964402 (DE-576)172043751 aut Sutter, Christian verfasserin (DE-588)1067529160 (DE-627)818862068 (DE-576)42671993X aut Ditsch, Nina verfasserin aut Blackburn, Anneke verfasserin aut Hill, Linda Zhai verfasserin aut Jerry, D. Joseph verfasserin aut Bugert, Peter 1964- verfasserin (DE-588)1025332342 (DE-627)722074018 (DE-576)370212169 aut Weber, Bernhard H. F. verfasserin aut Niederacher, Dieter verfasserin aut Arnold, Norbert verfasserin aut Varon-Mateeva, Raymonda verfasserin aut Wappenschmidt, Barbara verfasserin aut Schmutzler, Rita K. verfasserin aut Engel, Christoph verfasserin aut Meindl, Alfons verfasserin aut Bartram, Claus R. 1952- verfasserin (DE-588)139758518 (DE-627)613089502 (DE-576)312997159 aut Mollenhauer, Jan verfasserin (DE-588)1076883605 (DE-627)835430960 (DE-576)179125834 aut Burwinkel, Barbara 1969- verfasserin (DE-588)120685760 (DE-627)704924005 (DE-576)292337752 aut Enthalten in Human mutation London : Hindawi Limited, 1992 31(2010), 1, Seite 60-66 Online-Ressource (DE-627)306586193 (DE-600)1498165-8 (DE-576)250043572 1098-1004 nnns volume:31 year:2010 number:1 pages:60-66 extent:7 https://doi.org/10.1002/humu.21134 Verlag Resolving-System lizenzpflichtig Volltext https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.21134 Verlag lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 31 2010 1 60-66 7 2013 01 DE-16-250 4398054529 00 --%%-- --%%-- --%%-- --%%-- l01 26-10-23 2013 01 DE-16-250 00 s hd2010 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_27 2013 01 DE-16-250 03 s s_7 2013 01 DE-16-250 04 p (DE-627)1497937221 Tchatchou, Sandrine 2013 01 DE-16-250 04 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_1 2013 01 DE-16-250 05 p (DE-627)1843829770 Lyer, Stefan Heinz 2013 01 DE-16-250 05 k (DE-627)1416822720 Extern 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_3 2013 01 DE-16-250 06 p (DE-627)1868093697 Schmutzhard, Julia 2013 01 DE-16-250 06 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 06 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 06 s pos_4 2013 01 DE-16-250 07 p (DE-627)1697028322 Strobel-Freidekind, Olga 2013 01 DE-16-250 07 k (DE-627)1416822720 Extern 2013 01 DE-16-250 07 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 07 s pos_5 2013 01 DE-16-250 08 p (DE-627)1450004040 Schlehe, Bettina 2013 01 DE-16-250 08 k (DE-627)1416740961 Universitäts-Frauenklinik 2013 01 DE-16-250 08 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 08 s pos_9 2013 01 DE-16-250 09 p (DE-627)1567234704 Hemminki, Kari 2013 01 DE-16-250 09 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 09 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 09 s pos_10 2013 01 DE-16-250 10 p (DE-627)1496707400 Sutter, Christian 2013 01 DE-16-250 10 k (DE-627)1416741429 Institut für Humangenetik 2013 01 DE-16-250 10 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 10 s pos_11 2013 01 DE-16-250 11 p (DE-627)1440212716 Bugert, Peter 2013 01 DE-16-250 11 k (DE-627)1416467254 Medizinische Fakultät Mannheim 2013 01 DE-16-250 11 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 11 s pos_16 2013 01 DE-16-250 12 p (DE-627)1437187943 Bartram, Claus R. 2013 01 DE-16-250 12 k (DE-627)1416741429 Institut für Humangenetik 2013 01 DE-16-250 12 k (DE-627)1416740686 Klinikum der Universität Heidelberg 2013 01 DE-16-250 12 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 12 s pos_25 2013 01 DE-16-250 13 p (DE-627)151576480X Mollenhauer, Jan 2013 01 DE-16-250 13 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 13 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 13 s pos_26 2013 01 DE-16-250 14 p (DE-627)1475408374 Burwinkel, Barbara 2013 01 DE-16-250 14 k (DE-627)1416740961 Universitäts-Frauenklinik 2013 01 DE-16-250 14 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 14 s pos_27 |
allfieldsSound |
10.1002/humu.21134 doi (DE-627)1868088464 (DE-599)KXP1868088464 (OCoLC)1425872992 DE-627 ger DE-627 rda eng Tchatchou, Sandrine 1979- verfasserin (DE-588)138116601 (DE-627)696352168 (DE-576)306572095 aut Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity Sandrine Tchatchou, Angela Riedel, Stefan Lyer, Julia Schmutzhard, Olga Strobel-Freidekind, Sabine Gronert-Sum, Carola Mietag, Mauro D'Amato, Bettina Schlehe, Kari Hemminki, Christian Sutter, Nina Ditsch, Anneke Blackburn, Linda Zhai Hill, D. Joseph Jerry, Peter Bugert, Bernhard H. F. Weber, Dieter Niederacher, Norbert Arnold, Raymonda Varon-Mateeva, Barbara Wappenschmidt, Rita K. Schmutzler, Christoph Engel, Alfons Meindl, Claus R. Bartram, Jan Mollenhauer, and Barbara Burwinkel 2010 7 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Erstmals am 14 October 2009 online veröffentlicht Gesehen am 26.10.2023 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 30:1-7, 2009. © 2009 Wiley-Liss, Inc. breast cancer risk DMBT1 gene DMBT1 polymorphisms risk factor Riedel, Angela verfasserin aut Lyer, Stefan Heinz verfasserin (DE-588)1287304966 (DE-627)1843829398 aut Schmutzhard, Julia verfasserin (DE-588)1307379141 (DE-627)1868090884 aut Strobel-Freidekind, Olga verfasserin (DE-588)133196445 (DE-627)538270233 (DE-576)29968685X aut Gronert-Sum, Sabine verfasserin aut Mietag, Carola verfasserin aut D'Amato, Mauro verfasserin aut Schlehe, Bettina 1974- verfasserin (DE-588)122373448 (DE-627)081905998 (DE-576)293242631 aut Hemminki, Kari 1947- verfasserin (DE-588)1150735872 (DE-627)1010964402 (DE-576)172043751 aut Sutter, Christian verfasserin (DE-588)1067529160 (DE-627)818862068 (DE-576)42671993X aut Ditsch, Nina verfasserin aut Blackburn, Anneke verfasserin aut Hill, Linda Zhai verfasserin aut Jerry, D. Joseph verfasserin aut Bugert, Peter 1964- verfasserin (DE-588)1025332342 (DE-627)722074018 (DE-576)370212169 aut Weber, Bernhard H. F. verfasserin aut Niederacher, Dieter verfasserin aut Arnold, Norbert verfasserin aut Varon-Mateeva, Raymonda verfasserin aut Wappenschmidt, Barbara verfasserin aut Schmutzler, Rita K. verfasserin aut Engel, Christoph verfasserin aut Meindl, Alfons verfasserin aut Bartram, Claus R. 1952- verfasserin (DE-588)139758518 (DE-627)613089502 (DE-576)312997159 aut Mollenhauer, Jan verfasserin (DE-588)1076883605 (DE-627)835430960 (DE-576)179125834 aut Burwinkel, Barbara 1969- verfasserin (DE-588)120685760 (DE-627)704924005 (DE-576)292337752 aut Enthalten in Human mutation London : Hindawi Limited, 1992 31(2010), 1, Seite 60-66 Online-Ressource (DE-627)306586193 (DE-600)1498165-8 (DE-576)250043572 1098-1004 nnns volume:31 year:2010 number:1 pages:60-66 extent:7 https://doi.org/10.1002/humu.21134 Verlag Resolving-System lizenzpflichtig Volltext https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.21134 Verlag lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 31 2010 1 60-66 7 2013 01 DE-16-250 4398054529 00 --%%-- --%%-- --%%-- --%%-- l01 26-10-23 2013 01 DE-16-250 00 s hd2010 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_27 2013 01 DE-16-250 03 s s_7 2013 01 DE-16-250 04 p (DE-627)1497937221 Tchatchou, Sandrine 2013 01 DE-16-250 04 k 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Tchatchou, Sandrine @@aut@@ Riedel, Angela @@aut@@ Lyer, Stefan Heinz @@aut@@ Schmutzhard, Julia @@aut@@ Strobel-Freidekind, Olga @@aut@@ Gronert-Sum, Sabine @@aut@@ Mietag, Carola @@aut@@ D'Amato, Mauro @@aut@@ Schlehe, Bettina @@aut@@ Hemminki, Kari @@aut@@ Sutter, Christian @@aut@@ Ditsch, Nina @@aut@@ Blackburn, Anneke @@aut@@ Hill, Linda Zhai @@aut@@ Jerry, D. Joseph @@aut@@ Bugert, Peter @@aut@@ Weber, Bernhard H. F. @@aut@@ Niederacher, Dieter @@aut@@ Arnold, Norbert @@aut@@ Varon-Mateeva, Raymonda @@aut@@ Wappenschmidt, Barbara @@aut@@ Schmutzler, Rita K. @@aut@@ Engel, Christoph @@aut@@ Meindl, Alfons @@aut@@ Bartram, Claus R. @@aut@@ Mollenhauer, Jan @@aut@@ Burwinkel, Barbara @@aut@@ |
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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. 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misc breast cancer risk misc DMBT1 gene misc DMBT1 polymorphisms misc risk factor 2013 hd2010 2013 wissenschaftlicher Artikel (Zeitschrift) 2013 per_27 2013 s_7 2013 Tchatchou, Sandrine 2013 Medizinische Fakultät Heidelberg 2013 Verfasser 2013 pos_1 2013 Lyer, Stefan Heinz 2013 Extern 2013 pos_3 2013 Schmutzhard, Julia 2013 pos_4 2013 Strobel-Freidekind, Olga 2013 pos_5 2013 Schlehe, Bettina 2013 Universitäts-Frauenklinik 2013 pos_9 2013 Hemminki, Kari 2013 pos_10 2013 Sutter, Christian 2013 Institut für Humangenetik 2013 pos_11 2013 Bugert, Peter 2013 Medizinische Fakultät Mannheim 2013 pos_16 2013 Bartram, Claus R. 2013 Klinikum der Universität Heidelberg 2013 pos_25 2013 Mollenhauer, Jan 2013 pos_26 2013 Burwinkel, Barbara 2013 pos_27 |
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misc breast cancer risk misc DMBT1 gene misc DMBT1 polymorphisms misc risk factor 2013 hd2010 2013 wissenschaftlicher Artikel (Zeitschrift) 2013 per_27 2013 s_7 2013 Tchatchou, Sandrine 2013 Medizinische Fakultät Heidelberg 2013 Verfasser 2013 pos_1 2013 Lyer, Stefan Heinz 2013 Extern 2013 pos_3 2013 Schmutzhard, Julia 2013 pos_4 2013 Strobel-Freidekind, Olga 2013 pos_5 2013 Schlehe, Bettina 2013 Universitäts-Frauenklinik 2013 pos_9 2013 Hemminki, Kari 2013 pos_10 2013 Sutter, Christian 2013 Institut für Humangenetik 2013 pos_11 2013 Bugert, Peter 2013 Medizinische Fakultät Mannheim 2013 pos_16 2013 Bartram, Claus R. 2013 Klinikum der Universität Heidelberg 2013 pos_25 2013 Mollenhauer, Jan 2013 pos_26 2013 Burwinkel, Barbara 2013 pos_27 |
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Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity Sandrine Tchatchou, Angela Riedel, Stefan Lyer, Julia Schmutzhard, Olga Strobel-Freidekind, Sabine Gronert-Sum, Carola Mietag, Mauro D'Amato, Bettina Schlehe, Kari Hemminki, Christian Sutter, Nina Ditsch, Anneke Blackburn, Linda Zhai Hill, D. Joseph Jerry, Peter Bugert, Bernhard H. F. Weber, Dieter Niederacher, Norbert Arnold, Raymonda Varon-Mateeva, Barbara Wappenschmidt, Rita K. Schmutzler, Christoph Engel, Alfons Meindl, Claus R. Bartram, Jan Mollenhauer, and Barbara Burwinkel |
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identification of a dmbt1 polymorphism associated with increased breast cancer risk and decreased promoter activity |
title_auth |
Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity |
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 30:1-7, 2009. © 2009 Wiley-Liss, Inc. Erstmals am 14 October 2009 online veröffentlicht Gesehen am 26.10.2023 |
abstractGer |
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 30:1-7, 2009. © 2009 Wiley-Liss, Inc. Erstmals am 14 October 2009 online veröffentlicht Gesehen am 26.10.2023 |
abstract_unstemmed |
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 30:1-7, 2009. © 2009 Wiley-Liss, Inc. Erstmals am 14 October 2009 online veröffentlicht Gesehen am 26.10.2023 |
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1 |
title_short |
Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity |
url |
https://doi.org/10.1002/humu.21134 https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.21134 |
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