Loss of heterozygosity and mutation analysis of the p16 (9p21) and p53 (17p13) genes in squamous cell carcinoma of the head and neck.

Loss of heterozygosity and mutation analysis of the p16 (9p21) and p53 (17p13) genes in squamous cell carcinoma of the head and neck.
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头颈鳞状细胞癌中 p16 (9p21) 和 p53 (17p13) 基因的杂合性丢失和突变分析。

DOI:
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发表时间:
1995
影响因子:
11.5
通讯作者:
E. Coto
E. Coto
中科院分区:
医学1区
文献类型:
--
作者:
María Verónica González;M. F. Pello;C. López;C. Suárez;M. Menéndez;E. Coto

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我们分析了35例原发性头颈部鳞状细胞癌中p53基因(17 p13)和染色体9 p21区域的等位基因丢失。p53和9 p21的杂合性丢失(洛)分别为50%和75%。p53基因的洛缺失并不随肿瘤分期而显著增加,但在中、低分化肿瘤中的发生率高于高分化肿瘤。洛+p53突变或纯合性缺失仅限于晚期和低分化肿瘤。9 p21等位基因丢失在早期头颈部鳞状细胞癌中很常见,与p53的洛缺失无显著相关性。19例p16/MTS 1/CDKN 2基因第二外显子中有1例在9 p21处发生洛缺失,其余18例直接测序未发现突变。提示p16在头颈部鳞状细胞癌的发生发展中作用有限。
We analyzed allelic loss at the p53 gene (17p13) and at chromosome region 9p21 in 35 primary head and neck squamous cell carcinomas. Loss of heterozygosity (LOH) at p53 and 9p21 was found in 50 and 75% of informative cases, respectively. LOH at the p53 gene did not increase significantly with tumor stage, but was more frequent in moderately and poorly differentiated tumors than in well-differentiated tumors. LOH plus mutation or homozygous deletion of p53 was limited to advanced stage and poorly differentiated tumors. Allelic loss at 9p21 is frequent in early stage head and neck squamous cell carcinoma and is not significantly associated with LOH at p53. The second exon of the p16/MTS1/CDKN2 gene was found to be homozygously deleted in 1 of 19 cases showing LOH at 9p21, but direct sequencing did not show mutations in the remaining 18 cases. This suggests that p16 plays a limited role in the development of head and neck squamous cell carcinoma.
DOI: --
发表时间: 1994-10
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影响因子: 11.2
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