Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer
| العنوان: | Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer |
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| المؤلفون: | Richard Fishel, Steffen Pistorius, H. K. Schackert, Jens Plaschke, Hans Detlev Saeger, Henning Dralle, Tina Bocker, Christian Kruppa, René Tischler, Josef Rüschoff |
| المصدر: | International Journal of Cancer. 85:606-613 |
| بيانات النشر: | Wiley, 2000. |
| سنة النشر: | 2000 |
| مصطلحات موضوعية: | Adult, Male, Cancer Research, Genotype, Base Pair Mismatch, Colorectal cancer, Mutation, Missense, Biology, medicine.disease_cause, Germline, Germline mutation, Breast cancer, Proto-Oncogene Proteins, Carcinoma, medicine, Humans, Intestinal Mucosa, Frameshift Mutation, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Aged, DNA Primers, Sequence Deletion, Genetics, Mutation, Nuclear Proteins, Microsatellite instability, Exons, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Immunohistochemistry, Introns, Neoplasm Proteins, DNA-Binding Proteins, MutS Homolog 2 Protein, Amino Acid Substitution, Oncology, Female, DNA mismatch repair, Carrier Proteins, Colorectal Neoplasms, MutL Protein Homolog 1, Microsatellite Repeats |
| الوصف: | To evaluate the involvement of hMSH6 in colorectal cancer, the complete coding sequence and flanking intron regions of the gene were analyzed by DNA sequencing in 10 patients fulfilling Bethesda Guidelines for colorectal tumors and 10 patients with sporadic colorectal carcinoma. In addition, 10 mono- and 10 dinucleotide repeat markers were analyzed for microsatellite instability. A protein-truncating T insertion at codon 218 was identified in the index person of a hereditary non-polyposis colorectal cancer (HNPCC)-like kindred and was accompanied by a somatic T deletion in the tumor. The tumor of this patient was positive for mono- but negative for dinucleotide repeat instability and lacked allelic losses at loci frequently affected in colorectal carcinomas. A novel amino acid change, F340S, was found in a patient with sporadic colon and breast cancer and leukemia but was not detected in 246 chromosomes from healthy anonymous blood donors. In addition, we describe 2 silent and 15 intronic sequence variants not previously reported. Although the frequency is low, we present further evidence for hMSH6 germline mutations that predispose patients to HNPCC-like phenotypes and suggest that mono- and dinucleotide repeat instability testing may be useful for distinguishing between individuals harboring an hMSH2 or hMLH1 mutation and a mutation of the hMSH6 gene. |
| تدمد: | 1097-0215 0020-7136 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0849f7d96005aae98135b6fdf00b053Test https://doi.org/10.1002Test/(sici)1097-0215(20000301)85:5<606::aid-ijc2>3.0.co;2-b |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....e0849f7d96005aae98135b6fdf00b053 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10970215 00207136 |
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