Title |
A mutation at IVS1 + 5 of the von Hippel-Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report
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Published in |
BMC Medical Genomics, March 2012
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DOI | 10.1186/1471-2350-13-23 |
Pubmed ID | |
Authors |
Takeshi Asakawa, Mariko Esumi, Sohei Endo, Akinori Kida, Minoru Ikeda |
Abstract |
Von Hippel-Lindau disease (VHL) is a dominantly inherited familial cancer syndrome predisposing the patient to a variety of malignant and benign neoplasms, most frequently hemangioblastoma, renal cell carcinoma, pheochromocytoma, and pancreatic tumors. VHL is caused by mutations of the VHL tumor suppressor gene on the short arm of chromosome 3, and clinical manifestations develop if both alleles are inactivated according to the two-hit hypothesis. VHL mutations are more frequent in the coding region and occur occasionally in the splicing region of the gene. Previously, we reported that the loss of heterozygosity (LOH) of the VHL gene is common in squamous cell carcinoma tissues of the tongue. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 6% |
Unknown | 17 | 94% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 5 | 28% |
Student > Master | 4 | 22% |
Student > Bachelor | 2 | 11% |
Other | 2 | 11% |
Student > Ph. D. Student | 2 | 11% |
Other | 0 | 0% |
Unknown | 3 | 17% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 5 | 28% |
Agricultural and Biological Sciences | 4 | 22% |
Nursing and Health Professions | 2 | 11% |
Biochemistry, Genetics and Molecular Biology | 2 | 11% |
Computer Science | 1 | 6% |
Other | 1 | 6% |
Unknown | 3 | 17% |