Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer
| العنوان: | Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer |
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| المؤلفون: | Lei Fu, Ad Geurts van Kessel, Marc-Manuel Hahn, J. Han van Krieken, Richarda M. de Voer, Hans K. Schackert, Dominique Smeets, Ton van Essen, Gunnar Houge, Nicoline Hoogerbrugge, Conny M. A. van Ravenswaaij-Arts, Robbert D.A. Weren, Eveline J. Kamping, Eugène T P Verwiel, Jian Q. Sheng, Maayke Ariaans, Roland P. Kuiper, Hanka Venselaar, Liesbeth Spruijt, Lilian Vreede, Marjolijn J. L. Ligtenberg |
| المساهمون: | Ethical, Legal, Social Issues in Genetics (ELSI) |
| المصدر: | Gastroenterology, 145(3), 544-547. W B SAUNDERS CO-ELSEVIER INC Gastroenterology, 145, 3, pp. 544-7 Gastroenterology, 145, 544-7 |
| سنة النشر: | 2013 |
| مصطلحات موضوعية: | Chemical and physical biology [NCMLS 7], Adult, Genetics and epigenetic pathways of disease [NCMLS 6], BUB3, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], BUB1, Aneuploidy, Cell Cycle Proteins, Biology, Spindle Assembly Checkpoint, Protein Serine-Threonine Kinases, medicine.disease_cause, Germline, Germline mutation, MITOTIC CHECKPOINT, Translational research [ONCOL 3], Risk Factors, medicine, Biomarkers, Tumor, Humans, Genetics and epigenetic pathways of disease Translational research [NCMLS 6], Poly-ADP-Ribose Binding Proteins, Germ-Line Mutation, Mosaic Variegated Aneuploidy, Genetics, Cancer Predisposition, Mutation, Hepatology, Hereditary cancer and cancer-related syndromes [ONCOL 1], ANEUPLOIDY, Gastroenterology, medicine.disease, Translational research Tissue engineering and pathology [ONCOL 3], Spindle checkpoint, Case-Control Studies, Haploinsufficiency, Colorectal Neoplasms, Genome-Wide Association Study |
| الوصف: | Contains fulltext : 119287.pdf (Publisher’s version ) (Closed access) The spindle assembly checkpoint controls proper chromosome segregation during mitosis and prevents aneuploidy-an important feature of cancer cells. We performed genome-wide and targeted copy number and mutation analyses of germline DNA from 208 patients with familial or early-onset (40 years of age or younger) colorectal cancer; we identified haploinsufficiency or heterozygous mutations in the spindle assembly checkpoint genes BUB1 and BUB3 in 2.9% of them. Besides colorectal cancer, these patients had variegated aneuploidies in multiple tissues and variable dysmorphic features. These results indicate that mutations in BUB1 and BUB3 cause mosaic variegated aneuploidy and increase the risk of colorectal cancer at a young age. |
| وصف الملف: | application/pdf |
| تدمد: | 1528-0012 0016-5085 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9022b67fe0cd157d0e79bc762dcfd273Test https://pubmed.ncbi.nlm.nih.gov/23747338Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....9022b67fe0cd157d0e79bc762dcfd273 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15280012 00165085 |
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