文章基本信息

标题：Tumour suppressor gene CDKN2A/p16 germline mutations in melanoma patients with additional cancer and cancer in their family history
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作者：Dace Pjanova ; Olita Heisele ; Ludmila Engele 等
期刊名称：Environmental and Experimental Biology
印刷版ISSN：1691-8088
出版年度：2003
页码：25-32
出版社：University of Latvia
摘要：Germline mutations of the tumour suppressor gene CDKN2A/p16 have been reported in associationwith familial melanoma, sporadic melanoma and pancreatic cancer. We studied the possibility ofmutations in the CDKN2A/p16 gene in patients with melanoma and additional unrelated cancer andin patients with additional unrelated cancer in their family history as well. Twenty fi ve melanomapatients with additional cancer and twenty six melanoma patients with additional unrelated cancer intheir family history were studied. The entire coding region of the CDKN2A/p16 gene was screenedby single stranded conformation polymorphism analyses and direct DNA sequencing. No germlinemutations were detected in the observed melanoma patients. The previously described Ala148Thrand 500 C/G polymorphism were detected. It appears that the cancer development in the patientsstudied is related to a combination of low-risk susceptibility genes and environmental factors.
关键词：Cancer; CDKN2A/p16; melanoma; mutations; polymorphism; tumour suppressor;gene.