Loss of heterozygosity on 10q and mutational status of PTEN and BMPR1A in colorectal primary tumours and metastases
| Autor: | Philippe Rougier, Robert Malafosse, Ute Zimmermann, Christine Muti, Brams A, Catherine Julié, Karoui M, Bernard Nordlinger, A. M. Robreau, C Tresallet, Staroz F, Hélène Hofmann-Radvanyi, Pruvot Fr, Brigitte Franc, Boulard C, Christophe Penna, Catherine Boileau, J.P. Thiery, François Radvanyi, Hervé Puy |
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| Jazyk: | angličtina |
| Rok vydání: | 2004 |
| Předmět: |
Cancer Research
PTEN Colorectal cancer Molecular Sequence Data Loss of Heterozygosity colorectal cancer Protein Serine-Threonine Kinases Metastasis chromosome 10 medicine LOH metastasis Humans Juvenile polyposis syndrome Genes Tumor Suppressor Receptors Growth Factor Neoplasm Metastasis Lung cancer Bone Morphogenetic Protein Receptors Type I Germ-Line Mutation BMPR1A biology Base Sequence Chromosomes Human Pair 10 Endometrial cancer Tumor Suppressor Proteins PTEN Phosphohydrolase Microsatellite instability Cancer Genetics and Genomics medicine.disease Phosphoric Monoester Hydrolases Oncology Cancer research biology.protein Colorectal Neoplasms Microsatellite Repeats |
| Zdroj: | British Journal of Cancer |
| ISSN: | 1532-1827 0007-0920 |
| Popis: | Colorectal carcinoma is one of the most common cancers in Western countries. Most deaths related to colorectal cancer are caused by metastasis. Little is known about the genetic alterations associated with the metastatic phenotype. Deletions of the long arm of chromosome 10 have been reported in many types of tumour, including colorectal carcinomas (Frayling et al, 1997), and are correlated with tumour progression and/or metastasis formation in several of these cancers, such as glial tumours (Balesaria et al, 1999), lung cancer (Petersen et al, 1998), head and neck squamous cell carcinomas (Bockmuhl et al, 2002), bladder (Cappellen et al, 1997), prostate (Komiya et al, 1996) and breast carcinomas (Bose et al, 1998). Several putative or known tumour-suppressor genes have been mapped to 10q, including BMPR1A on 10q23.2 and PTEN/MMAC1/TEP1 on 10q23.3. Mutations in PTEN are associated with hereditary cancer predisposition syndromes (Liaw et al, 1997; Marsh et al, 1997) and, to a greater or lesser extent, with a wide variety of sporadic cancers (Ali et al, 1999; Bonneau and Longy, 2000). With the exception of endometrial cancer (Mutter et al, 2000), alterations to PTEN in cancer are almost exclusively detected in advanced stages of disease. Mutations in PTEN have been studied only in primary colorectal tumours, and this gene appears to be involved only in tumours with microsatellite instability (MSI+) (Guanti et al, 2000; Shin et al, 2001; Zhou et al, 2002). The presence of germ-line-inactivating mutations in the BMPR1A gene has been found to be responsible for a significant proportion of cases of juvenile polyposis syndrome, an inherited hamartomatous polyposis syndrome with a risk of colon cancer (Howe et al, 2001; Zhou et al, 2001). Although BMPR1A was a good candidate for involvement in the pathogenesis of sporadic colon cancer, no mutations have yet been identified in primary colorectal tumours displaying LOH at the BMPR1A locus (Howe et al, 2001). |
| Databáze: | OpenAIRE |
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