Breast cancer in an MSH2 gene mutation carrier
Breast cancer in an MSH2 gene mutation carrier
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DOI：
10.1016/j.humpath.2005.08.025
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发表时间：
2005-12-01
期刊：
影响因子：
3.3
通讯作者：
Dinjens, WNM
中科院分区：
文献类型：
--
作者：
Westenend, PJ;Schütte, R;Dinjens, WNM
一位49岁的女性患有乳腺癌。她是遗传性非息肉病性结直肠癌综合征家族的一员，在错配修复基因MSH2（c 1705_1706 delGA）的外显子11中发现了2个碱基对缺失。乳腺癌是罕见的遗传性非息肉病性结直肠癌综合征。肿瘤的微卫星分析显示标记Bat25、Bat26和Bat40的微卫星不稳定模式，而标记D2S123和D5S346没有变化，即所谓的微卫星不稳定性高模式。错配修复酶MSH2和MSH6的免疫组织化学染色呈阴性，而肿瘤细胞的MLH1呈阳性，提示双等位基因MSH2基因失活。我们检测了肿瘤的MSH2基因杂合性缺失，发现野生型MSH2等位基因缺失。这些数据有力地表明，MSH2基因参与了该乳腺肿瘤的发展。(c)2005年爱思唯尔公司All rights reserved.
A 49-year-old woman presented with breast cancer. She is a member of a family with the hereditary nonpolyposis colorectal cancer syndrome for which a 2-base pair deletion in exon 11 of the mismatch repair gene MSH2 (c 1705_1706 delGA) had been identified. Breast cancer is rare in the hereditary nonpolyposis colorectal cancer syndrome. Microsatellite analysis of the tumor showed a microsatellite instable pattern for markers Bat25, Bat26, and Bat40, and no changes for markers D2S123 and D5S346, a so-called microsatellite instability-high pattern. Immunohistochemical staining for the mismatch repair enzymes MSH2 and MSH6 was negative, whereas the tumor cells were positive for MLH1, a pattern suggestive for biallelic MSH2 gene inactivation. We tested the tumor for loss of heterozygosity of the MSH2 gene and found loss of the wild-type MSH2 allele. These data strongly suggest that the MSH2 gene was involved in the development of this breast tumor. (c) 2005 Elsevier Inc. All rights reserved.