一例在BRCA2突变及林奇综合征双重杂合性背景下的子宫内膜癌病例。
A case of endometrial cancer in the context of a BRCA2 mutation and double heterozygosity for Lynch syndrome.
作者信息
Gong Ping, Charles Sarah, Rosenblum Norman, Wang Zoe, Witkiewicz Agnieszka K
机构信息
Department of Pathology, Thomas Jefferson University Hospital, Philadelphia, PA, United States.
Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA, United States.
出版信息
Gynecol Oncol Case Rep. 2012 Mar 15;2(3):69-72. doi: 10.1016/j.gynor.2012.03.001. eCollection 2012.
Abstract
► Endometrial cancer with BRCA2 mutation and double heterozygosity for Lynch syndrome. ► Loss of MLH1 and PMS2 by immunohistochemical stain. ► MSH1 and MSH6 gene mutations by genomic sequencing.
摘要
► 伴有BRCA2突变及林奇综合征双杂合性的子宫内膜癌。
► 通过免疫组化染色检测MLH1和PMS2缺失。
► 通过基因组测序检测MSH1和MSH6基因突变。
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本文引用的文献
1
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Fam Cancer. 2011 Sep;10(3):535-43. doi: 10.1007/s10689-011-9444-z.
2
Microsatellite instability in colorectal cancer: from molecular oncogenic mechanisms to clinical implications.结直肠癌中的微卫星不稳定性：从分子致癌机制到临床意义。
Cell Oncol (Dordr). 2011 Jun;34(3):155-76. doi: 10.1007/s13402-011-0024-x. Epub 2011 Apr 12.
3
DNA mismatch repair deficiency in endometrial carcinoma.子宫内膜癌中的DNA错配修复缺陷
Int J Gynecol Pathol. 2009 May;28(3):239-55. doi: 10.1097/PGP.0b013e31818d8fe6.
4
Current and emerging trends in Lynch syndrome identification in women with endometrial cancer.子宫内膜癌女性林奇综合征识别的当前及新出现的趋势
Gynecol Oncol. 2009 Jul;114(1):128-34. doi: 10.1016/j.ygyno.2009.03.003. Epub 2009 Apr 17.
5
Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes.家族性乳腺癌：BRCA1和BRCA2突变的双重杂合性与不同表型。
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6
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7
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8
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