18 results on '"Dörk, Thilo"'
Search Results
2. CYP2B6*6 is associated with increased breast cancer risk
- Author
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Justenhoven, Christina, Pentimalli, Daniela, Rabstein, Sylvia, Harth, Volker, Lotz, Anne, Pesch, Beate, Brüning, Thomas, Dörk, Thilo, Schürmann, Peter, Bogdanova, Natalia, Park-Simon, Tjoung-Won, Couch, Fergus J., Olson, Janet E., Fasching, Peter A., Beckmann, Matthias W., Häberle, Lothar, Ekici, Arif, Hall, Per, Czene, Kamilla, Liu, Janjun, Li, Jingmei, Baisch, Christian, Hamann, Ute, Ko, Yon-Dschun, and Brauch, Hiltrud
- Published
- 2014
- Full Text
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3. Germline variation in TP53 regulatory network genes associates with breast cancer survival and treatment outcome
- Author
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Jamshidi, Maral, Schmidt, Marjanka K., Dörk, Thilo, Garcia-Closas, Montserrat, Heikkinen, Tuomas, Cornelissen, Sten, van den Broek, Alexandra J., Schürmann, Peter, Meyer, Andreas, Park-Simon, Tjoung-Won, Figueroa, Jonine, Sherman, Mark, Lissowska, Jolanta, Keong, Garrett Teoh Hor, Irwanto, Astrid, Laakso, Marko, Hautaniemi, Sampsa, Aittomäki, Kristiina, Blomqvist, Carl, Liu, Jianjun, and Nevanlinna, Heli
- Published
- 2013
- Full Text
- View/download PDF
4. Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer
- Author
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Kho, Pik‐Fang, primary, Amant, Frederic, additional, Annibali, Daniela, additional, Ashton, Katie, additional, Attia, John, additional, Auer, Paul L., additional, Beckmann, Matthias W., additional, Black, Amanda, additional, Brinton, Louise, additional, Buchanan, Daniel D., additional, Chanock, Stephen J., additional, Chen, Chu, additional, Chen, Maxine M., additional, Cheng, Timothy H. T., additional, Cook, Linda S., additional, Crous‐Bous, Marta, additional, Czene, Kamila, additional, De Vivo, Immaculata, additional, Dennis, Joe, additional, Dörk, Thilo, additional, Dowdy, Sean C., additional, Dunning, Alison M., additional, Dürst, Matthias, additional, Easton, Douglas F., additional, Ekici, Arif B., additional, Fasching, Peter A., additional, Fridley, Brooke L., additional, Friedenreich, Christine M., additional, García‐Closas, Montserrat, additional, Gaudet, Mia M., additional, Giles, Graham G., additional, Goode, Ellen L., additional, Gorman, Maggie, additional, Haiman, Christopher A., additional, Hall, Per, additional, Hankinson, Susan E., additional, Hein, Alexander, additional, Hillemanns, Peter, additional, Hodgson, Shirley, additional, Hoivik, Erling A., additional, Holliday, Elizabeth G., additional, Hunter, David J., additional, Jones, Angela, additional, Kraft, Peter, additional, Krakstad, Camilla, additional, Lambrechts, Diether, additional, Le Marchand, Loic, additional, Liang, Xiaolin, additional, Lindblom, Annika, additional, Lissowska, Jolanta, additional, Long, Jirong, additional, Lu, Lingeng, additional, Magliocco, Anthony M., additional, Martin, Lynn, additional, McEvoy, Mark, additional, Milne, Roger L., additional, Mints, Miriam, additional, Nassir, Rami, additional, Otton, Geoffrey, additional, Palles, Claire, additional, Pooler, Loreall, additional, Proietto, Tony, additional, Rebbeck, Timothy R., additional, Renner, Stefan P., additional, Risch, Harvey A., additional, Rübner, Matthias, additional, Runnebaum, Ingo, additional, Sacerdote, Carlotta, additional, Sarto, Gloria E., additional, Schumacher, Fredrick, additional, Scott, Rodney J., additional, Setiawan, V. Wendy, additional, Shah, Mitul, additional, Sheng, Xin, additional, Shu, Xiao‐Ou, additional, Southey, Melissa C., additional, Tham, Emma, additional, Tomlinson, Ian, additional, Trovik, Jone, additional, Turman, Constance, additional, Tyrer, Jonathan P., additional, Van Den Berg, David, additional, Wang, Zhaoming, additional, Wentzensen, Nicolas, additional, Xia, Lucy, additional, Xiang, Yong‐Bing, additional, Yang, Hannah P., additional, Yu, Herbert, additional, Zheng, Wei, additional, Webb, Penelope M., additional, Thompson, Deborah J., additional, Spurdle, Amanda B., additional, Glubb, Dylan M., additional, and O'Mara, Tracy A., additional
- Published
- 2020
- Full Text
- View/download PDF
5. Association of genomic variants at the human leukocyte antigen locus with cervical cancer risk, HPV status and gene expression levels
- Author
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Ramachandran, Dhanya, primary, Schürmann, Peter, additional, Mao, Qianqian, additional, Wang, Yingying, additional, Bretschneider, Lisa‐Marie, additional, Speith, Lisa‐Marie, additional, Hülse, Fabienne, additional, Enßen, Julia, additional, Bousset, Kristine, additional, Jentschke, Matthias, additional, Böhmer, Gerd, additional, Strauß, Hans‐Georg, additional, Hirchenhain, Christine, additional, Schmidmayr, Monika, additional, Tarbiat, Johanna, additional, Runnebaum, Ingo, additional, Dürst, Matthias, additional, Hein, Alexander, additional, Koch, Martin, additional, Ruebner, Matthias, additional, Ekici, Arif, additional, Beckmann, Matthias W., additional, Fasching, Peter A., additional, Luyten, Alexander, additional, Petry, Karl‐Ulrich, additional, Hillemanns, Peter, additional, and Dörk, Thilo, additional
- Published
- 2020
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6. Nijmegen Breakage Syndrome mutations and risk of breast cancer
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Bogdanova, Natalia, Feshchenko, Sergei, Schürmann, Peter, Waltes, Regina, Wieland, Britta, Hillemanns, Peter, Rogov, Yuri I., Dammann, Olaf, Bremer, Michael, Karstens, Johann H., Sohn, Christof, Varon, Raymonda, and Dörk, Thilo
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- 2008
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7. Association of two mutations in the CHEK2 gene with breast cancer
- Author
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Bogdanova, Natalia, Enen-Dubrowinskaja, Natalia, Feshchenko, Sergei, Lazjuk, Gennady I., Rogov, Yuri I., Dammann, Olaf, Bremer, Michael, Karstens, Johann H., Sohn, Christof, and Dörk, Thilo
- Published
- 2005
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8. Evaluation of associations between genetically predicted circulating protein biomarkers and breast cancer risk
- Author
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Shu, Xiang, primary, Bao, Jiandong, additional, Wu, Lang, additional, Long, Jirong, additional, Shu, Xiao‐Ou, additional, Guo, Xingyi, additional, Yang, Yaohua, additional, Michailidou, Kyriaki, additional, Bolla, Manjeet K., additional, Wang, Qin, additional, Dennis, Joe, additional, Andrulis, Irene L., additional, Castelao, Jose E., additional, Dörk, Thilo, additional, Gago‐Dominguez, Manuela, additional, García‐Closas, Montserrat, additional, Giles, Graham G., additional, Lophatananon, Artitaya, additional, Muir, Kenneth, additional, Olsson, Håkan, additional, Rennert, Gadi, additional, Saloustros, Emmanouil, additional, Scott, Rodney J., additional, Southey, Melissa C., additional, Pharoah, Paul D.P., additional, Milne, Roger L., additional, Kraft, Peter, additional, Simard, Jacques, additional, Easton, Douglas F., additional, and Zheng, Wei, additional
- Published
- 2019
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9. Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer.
- Author
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Kho, Pik‐Fang, Amant, Frederic, Annibali, Daniela, Ashton, Katie, Attia, John, Auer, Paul L., Beckmann, Matthias W., Black, Amanda, Brinton, Louise, Buchanan, Daniel D., Chanock, Stephen J., Chen, Chu, Chen, Maxine M., Cheng, Timothy H. T., Cook, Linda S., Crous‐Bous, Marta, Czene, Kamila, De Vivo, Immaculata, Dennis, Joe, and Dörk, Thilo
- Subjects
BLOOD lipids ,ENDOMETRIAL cancer ,CHOLESTERYL ester transfer protein ,DYSLIPIDEMIA ,CHOLESTEROL ,BODY mass index ,HEMATOLOGIC malignancies ,HIGH density lipoproteins - Abstract
Blood lipids have been associated with the development of a range of cancers, including breast, lung and colorectal cancer. For endometrial cancer, observational studies have reported inconsistent associations between blood lipids and cancer risk. To reduce biases from unmeasured confounding, we performed a bidirectional, two‐sample Mendelian randomization analysis to investigate the relationship between levels of three blood lipids (low‐density lipoprotein [LDL] and high‐density lipoprotein [HDL] cholesterol, and triglycerides) and endometrial cancer risk. Genetic variants associated with each of these blood lipid levels (P < 5 × 10−8) were identified as instrumental variables, and assessed using genome‐wide association study data from the Endometrial Cancer Association Consortium (12 906 cases and 108 979 controls) and the Global Lipids Genetic Consortium (n = 188 578). Mendelian randomization analyses found genetically raised LDL cholesterol levels to be associated with lower risks of endometrial cancer of all histologies combined, and of endometrioid and non‐endometrioid subtypes. Conversely, higher genetically predicted HDL cholesterol levels were associated with increased risk of non‐endometrioid endometrial cancer. After accounting for the potential confounding role of obesity (as measured by genetic variants associated with body mass index), the association between genetically predicted increased LDL cholesterol levels and lower endometrial cancer risk remained significant, especially for non‐endometrioid endometrial cancer. There was no evidence to support a role for triglycerides in endometrial cancer development. Our study supports a role for LDL and HDL cholesterol in the development of non‐endometrioid endometrial cancer. Further studies are required to understand the mechanisms underlying these findings. What's new? Some studies have suggested that serum lipids may correlate with endometrial cancer (EC) risk, but results have been inconsistent. In our study, the authors used genetic markers to predict LDL and HDL cholesterol levels and analyze EC risk. They found that when lower LDL or higher HDL levels were predicted, EC risk was increased. These results support a role for LDL and HDL cholesterol in the development of EC, and lipid levels may represent a risk factor for EC. Further studies are required to assess the biological and clinical significance of these associations. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
10. Evaluation of associations between genetically predicted circulating protein biomarkers and breast cancer risk.
- Author
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Shu, Xiang, Bao, Jiandong, Wu, Lang, Long, Jirong, Shu, Xiao‐Ou, Guo, Xingyi, Yang, Yaohua, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Andrulis, Irene L., Castelao, Jose E., Dörk, Thilo, Gago‐Dominguez, Manuela, García‐Closas, Montserrat, Giles, Graham G., Lophatananon, Artitaya, Muir, Kenneth, and Olsson, Håkan
- Subjects
BREAST cancer ,BREAST cancer risk factors ,BIOMARKERS - Abstract
A small number of circulating proteins have been reported to be associated with breast cancer risk, with inconsistent results. Herein, we attempted to identify novel protein biomarkers for breast cancer via the integration of genomics and proteomics data. In the Breast Cancer Association Consortium (BCAC), with 122,977 cases and 105,974 controls of European descendants, we evaluated the associations of the genetically predicted concentrations of >1,400 circulating proteins with breast cancer risk. We used data from a large‐scale protein quantitative trait loci (pQTL) analysis as our study instrument. Summary statistics for these pQTL variants related to breast cancer risk were obtained from the BCAC and used to estimate odds ratios (OR) for each protein using the inverse‐variance weighted method. We identified 56 proteins significantly associated with breast cancer risk by instrumental analysis (false discovery rate <0.05). Of these, the concentrations of 32 were influenced by variants close to a breast cancer susceptibility locus (ABO, 9q34.2). Many of these proteins, such as insulin receptor, insulin‐like growth factor receptor 1 and other membrane receptors (OR: 0.82–1.18, p values: 6.96 × 10−4–3.28 × 10−8), are linked to insulin resistance and estrogen receptor signaling pathways. Proteins identified at other loci include those involved in biological processes such as alcohol and lipid metabolism, proteolysis, apoptosis, immune regulation and cell motility and proliferation. Consistent associations were observed for 22 proteins in the UK Biobank data (p < 0.05). The study identifies potential novel biomarkers for breast cancer, but further investigation is needed to replicate our findings. What's new? Reliable biomarkers for breast cancer are critically needed, but results from existing studies have been inconsistent. Here the authors combined genomics and proteomics expertise and identified 56 circulating proteins, for which genetically predicted levels were associated with breast cancer risk. These proteins are involved in relevant biological processes such as estrogen receptor signaling and insulin resistance and will serve as candidates for further evaluative investigations. [ABSTRACT FROM AUTHOR]
- Published
- 2020
- Full Text
- View/download PDF
11. Exome sequencing and case-control analyses identifyRCC1as a candidate breast cancer susceptibility gene
- Author
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Riahi, Aouatef, primary, Radmanesh, Hoda, additional, Schürmann, Peter, additional, Bogdanova, Natalia, additional, Geffers, Robert, additional, Meddeb, Rym, additional, Kharrat, Maher, additional, and Dörk, Thilo, additional
- Published
- 2018
- Full Text
- View/download PDF
12. CYP2B6*6 is associated with increased breast cancer risk
- Author
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Justenhoven, Christina, Pentimalli, Daniela, Rabstein, Sylvia, Harth, Volker, Lotz, Anne, Pesch, Beate, Brüning, Thomas, Dörk, Thilo, Schürmann, Peter, Bogdanova, Natalia, Park-Simon, Tjoung-Won, Couch, Fergus J., Olson, Janet E., Fasching, Peter A, Beckmann, Matthias W., Häberle, Lothar, Ekici, Arif, Hall, Per, Czene, Kamilla, Liu, Janjun, Li, Jingmei, Baisch, Christian, Hamann, Ute, Ko, Yon-Dschun, and Brauch, Hiltrud
- Subjects
Adult ,Aged, 80 and over ,Polymorphism, Genetic ,Genotype ,Breast Neoplasms ,Middle Aged ,Prognosis ,Article ,Cytochrome P-450 CYP2B6 ,Meta-Analysis as Topic ,Risk Factors ,Case-Control Studies ,Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization ,Biomarkers, Tumor ,Humans ,Female ,Genetic Predisposition to Disease ,Aryl Hydrocarbon Hydroxylases ,Aged ,Follow-Up Studies - Abstract
The cytochrome P450 2B6 (CYP2B6) is involved in the metabolism of testosterone. Functional changes in this enzyme may influence endogenous hormone exposure, which has been associated with risk of breast cancer. To assess potential associations between two functional polymorphisms CYP2B6_516_G>T (rs3745274) and CYP2B6_785_A>G (rs2279343) and breast cancer risk we established a specific matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) assay. The GENICA breast cancer case-control study showed associations between the variant genotypes CYP2B6_516_TT and CYP2B6_785_GG and breast cancer risk with odds ratios (ORs) of 1.34 (p = 0.001) and 1.31 (p = 0.002), respectively. A similar effect was observed for carriers of the CYP2B6_516_T allele in a validation study including four independent studies from Germany, Sweden and USA. In a pooled analysis of all five studies involving 4,638 breast cancer cases and 3,594 controls of European ancestry, carriers of the CYP2B6_516_G and the CYP2B6_785_G variant had an increased breast cancer risk with ORs of 1.10 (p = 0.027) and 1.10 (p = 0.031), respectively. We conclude that the genetic variants CYP2B6_516_G and CYP2B6_785_G (designated CYP2B6*6), which are known to decrease activity of the CYP2B6 enzyme, contribute to an increased breast cancer risk.
- Published
- 2013
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13. Exome sequencing and case–control analyses identify <italic>RCC1</italic> as a candidate breast cancer susceptibility gene.
- Author
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Riahi, Aouatef, Radmanesh, Hoda, Schürmann, Peter, Bogdanova, Natalia, Geffers, Robert, Meddeb, Rym, Kharrat, Maher, and Dörk, Thilo
- Abstract
Breast cancer is a genetic disease but the known genes explain a minority of cases. To elucidate the molecular basis of breast cancer in the Tunisian population, we performed exome sequencing on six
BRCA1 /BRCA2 mutation‐negative patients with familial breast cancer and identified a novel frameshift mutation inRCC1 , encoding the Regulator of Chromosome Condensation 1. Subsequent genotyping detected the 19‐bp deletion in additional 5 out of 153 (3%) breast cancer patients but in none of 400 female controls (p = 0.0015). The deletion was enriched in patients with a positive family history (5%,p = 0.0009) and co‐segregated with breast cancer in the initial pedigree. The mutant allele was lost in 4/6 breast tumors from mutation carriers which may be consistent with the hypothesis that RCC1 dysfunction provides a selective disadvantage at the stage of tumor progression. In summary, we proposeRCC1 as a likely breast cancer susceptibility gene in the Tunisian population. [ABSTRACT FROM AUTHOR]- Published
- 2018
- Full Text
- View/download PDF
14. Germline variation in TP53 regulatory network genes associates with breast cancer survival and treatment outcome
- Author
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Jamshidi, Maral, primary, Schmidt, Marjanka K., additional, Dörk, Thilo, additional, Garcia-Closas, Montserrat, additional, Heikkinen, Tuomas, additional, Cornelissen, Sten, additional, van den Broek, Alexandra J., additional, Schürmann, Peter, additional, Meyer, Andreas, additional, Park-Simon, Tjoung-Won, additional, Figueroa, Jonine, additional, Sherman, Mark, additional, Lissowska, Jolanta, additional, Keong, Garrett Teoh Hor, additional, Irwanto, Astrid, additional, Laakso, Marko, additional, Hautaniemi, Sampsa, additional, Aittomäki, Kristiina, additional, Blomqvist, Carl, additional, Liu, Jianjun, additional, and Nevanlinna, Heli, additional
- Published
- 2012
- Full Text
- View/download PDF
15. Nijmegen Breakage Syndrome mutations and risk of breast cancer
- Author
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Bogdanova, Natalia, primary, Feshchenko, Sergei, additional, Schürmann, Peter, additional, Waltes, Regina, additional, Wieland, Britta, additional, Hillemanns, Peter, additional, Rogov, Yuri I., additional, Dammann, Olaf, additional, Bremer, Michael, additional, Karstens, Johann H., additional, Sohn, Christof, additional, Varon, Raymonda, additional, and Dörk, Thilo, additional
- Published
- 2007
- Full Text
- View/download PDF
16. Association of two mutations in theCHEK2 gene with breast cancer
- Author
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Bogdanova, Natalia, primary, Enβen-Dubrowinskaja, Natalia, additional, Feshchenko, Sergei, additional, Lazjuk, Gennady I., additional, Rogov, Yuri I., additional, Dammann, Olaf, additional, Bremer, Michael, additional, Karstens, Johann H., additional, Sohn, Christof, additional, and Dörk, Thilo, additional
- Published
- 2005
- Full Text
- View/download PDF
17. Association of genomic variants at PAX8 and PBX2 with cervical cancer risk.
- Author
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Ramachandran D, Wang Y, Schürmann P, Hülse F, Mao Q, Jentschke M, Böhmer G, Strauß HG, Hirchenhain C, Schmidmayr M, Müller F, Runnebaum I, Hein A, Koch M, Ruebner M, Beckmann MW, Fasching PA, Luyten A, Dürst M, Hillemanns P, and Dörk T
- Abstract
Cervical malignancy is triggered by human papillomavirus infection but the risk for cervical cancer has a hereditary component. From a recent Genome Wide Association Study meta-analysis, 2q14.1 (PAX8) and 6p21.32 (PBX2) have been proposed as novel cervical cancer susceptibility loci. We investigated the two main signals at these loci in an independent case-control series of 2578 cases with cervical dysplasia or carcinoma and 1483 healthy females. We find significant associations for both variants, rs10175462 at PAX8 and rs2856437 at PBX2, with overall cervical disease (rs10175462: odds ratio [OR] 0.82, 95% confidence interval [CI] 0.74-0.91, P = 2.4 × 10
-4 ; rs2856437: OR 1.52, 95% CI 1.14-2.02, P = .004). Both variants showed evidence of association with invasive squamous cervical cancer (rs10175462: OR 0.80, 95% CI 0.68-0.94, P = .006; rs2856437: OR 1.56, 95% CI 1.03-2.36, P = .036) and with high-grade dysplasia (rs10175462: OR 0.79, 95%CI 0.70-0.90, P = 1.9 × 10-4 ; rs2856437: OR 1.58, 95% CI 1.15-2.17, P = .005). A combined analysis of high-grade dysplasia and invasive cervical cancer also showed significant associations for both variants (rs10175462: OR 0.81, 95% CI 0.73-0.91, P = 2.4 × 10-4 ; rs2856437: OR 1.57, 95% CI 1.18-2.10, P = .002). No association was detected for rs2856437 with low-grade dysplasia, while rs10175462 showed weak evidence of association (P = .05). RNA analyses in cervical samples revealed that PAX8 transcripts were upregulated in HPV-positive lesions (P = .008) but this was not observed in the presence of the protective minor allele of rs10175462. The rs10175462 genotype also correlated with reduced levels of the lncRNA PAX8-AS1 (P < .001). Taken together, our results extend the evidence for a link between genomic risk variants at the HLA region (PBX2) with cervical disease and support PAX8 as the first consistent non-HLA cervical cancer susceptibility locus., (© 2021 The Authors. International Journal of Cancer published by John Wiley & Sons Ltd on behalf of UICC.)- Published
- 2021
- Full Text
- View/download PDF
18. Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene.
- Author
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Riahi A, Radmanesh H, Schürmann P, Bogdanova N, Geffers R, Meddeb R, Kharrat M, and Dörk T
- Subjects
- Adult, Aged, Aged, 80 and over, Case-Control Studies, Exome genetics, Female, Frameshift Mutation, Genetic Association Studies, Genotype, Humans, Middle Aged, Pedigree, Tunisia, Breast Neoplasms genetics, Cell Cycle Proteins genetics, Genetic Predisposition to Disease genetics, Guanine Nucleotide Exchange Factors genetics, Nuclear Proteins genetics
- Abstract
Breast cancer is a genetic disease but the known genes explain a minority of cases. To elucidate the molecular basis of breast cancer in the Tunisian population, we performed exome sequencing on six BRCA1/BRCA2 mutation-negative patients with familial breast cancer and identified a novel frameshift mutation in RCC1, encoding the Regulator of Chromosome Condensation 1. Subsequent genotyping detected the 19-bp deletion in additional 5 out of 153 (3%) breast cancer patients but in none of 400 female controls (p = 0.0015). The deletion was enriched in patients with a positive family history (5%, p = 0.0009) and co-segregated with breast cancer in the initial pedigree. The mutant allele was lost in 4/6 breast tumors from mutation carriers which may be consistent with the hypothesis that RCC1 dysfunction provides a selective disadvantage at the stage of tumor progression. In summary, we propose RCC1 as a likely breast cancer susceptibility gene in the Tunisian population., (© 2018 UICC.)
- Published
- 2018
- Full Text
- View/download PDF
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