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Lynch Syndrome Associated With PMS2 Mutation: Understanding Current Concepts.与PMS2突变相关的林奇综合征:理解当前概念
Gastrointest Cancer Res. 2011 Sep;4(5-6):188-90.
2
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.MSH6和PMS2突变阳性的澳大利亚林奇综合征家族:新突变、癌症风险及结直肠癌诊断年龄
Hered Cancer Clin Pract. 2010 May 21;8(1):5. doi: 10.1186/1897-4287-8-5.
3
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.因种系PMS2突变导致的林奇综合征的临床表型。
Gastroenterology. 2008 Aug;135(2):419-28. doi: 10.1053/j.gastro.2008.04.026. Epub 2008 May 2.
4
PMS2 involvement in patients suspected of Lynch syndrome.PMS2在疑似林奇综合征患者中的作用。
Genes Chromosomes Cancer. 2009 Apr;48(4):322-9. doi: 10.1002/gcc.20642.
5
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.PMS2的移码突变是林奇综合征的常见病因。
J Med Genet. 2008 Jun;45(6):340-5. doi: 10.1136/jmg.2007.056150. Epub 2008 Jan 4.
6
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.对大量疑似林奇综合征或遗传性错配修复缺陷综合征先证者队列中的PMS2进行全面突变分析。
Hum Mutat. 2016 Nov;37(11):1162-1179. doi: 10.1002/humu.23052. Epub 2016 Aug 21.
7
Somatic Tumor Profile Analysis in a Patient with Germline Mutation and Synchronous Ovarian and Uterine Carcinomas.一名携带胚系突变且同时患有卵巢癌和子宫癌患者的体细胞肿瘤特征分析
J Pers Med. 2021 Jul 5;11(7):634. doi: 10.3390/jpm11070634.
8
Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers.林奇综合征当前预测模型的评估:更新PREMM5模型以识别PMS2突变携带者。
Fam Cancer. 2018 Jul;17(3):361-370. doi: 10.1007/s10689-017-0039-1.
9
A case of early onset rectal cancer of Lynch syndrome with a novel deleterious PMS2 mutation.一例伴有新型有害PMS2突变的林奇综合征早发性直肠癌病例。
Jpn J Clin Oncol. 2015 Oct;45(10):987-92. doi: 10.1093/jjco/hyv108. Epub 2015 Aug 1.
10
Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.在林奇综合征患者中,结直肠癌和子宫内膜癌患者若显示PMS2免疫组化表达单独缺失,则常可检测到胚系MLH1突变。
Am J Surg Pathol. 2015 Aug;39(8):1114-20. doi: 10.1097/PAS.0000000000000425.

引用本文的文献

1
Modeling cancer using patient-derived induced pluripotent stem cells to understand development of childhood malignancies.利用患者来源的诱导多能干细胞对癌症进行建模,以了解儿童恶性肿瘤的发展。
Cell Death Discov. 2018 Feb 1;4:7. doi: 10.1038/s41420-017-0009-2. eCollection 2018 Dec.
2
Jejunal Cancer with WRN Mutation Identified from Next-Generation Sequencing: A Case Study and Minireview.通过下一代测序鉴定出的携带WRN突变的空肠癌:病例研究与综述
Case Rep Surg. 2014;2014:126924. doi: 10.1155/2014/126924. Epub 2014 Jun 15.

本文引用的文献

1
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.林奇综合征中 MLH1、MSH2 和 MSH6 基因种系突变与癌症风险的相关性。
JAMA. 2011 Jun 8;305(22):2304-10. doi: 10.1001/jama.2011.743.
2
Upper urinary tract carcinoma in Lynch syndrome cases.林奇综合征相关上尿路上皮癌。
J Urol. 2011 May;185(5):1627-30. doi: 10.1016/j.juro.2010.12.102. Epub 2011 Mar 21.
3
Endometrial carcinomas with ambiguous features.具有模糊特征的子宫内膜癌。
Semin Diagn Pathol. 2010 Nov;27(4):261-73. doi: 10.1053/j.semdp.2010.09.003.
4
Analysis of EPCAM protein expression in diagnostics of Lynch syndrome.EPCAM 蛋白表达分析在林奇综合征诊断中的应用。
J Clin Oncol. 2011 Jan 10;29(2):223-7. doi: 10.1200/JCO.2010.32.0820. Epub 2010 Nov 29.
5
An intronic mutation in MLH1 associated with familial colon and breast cancer.MLH1 内含子突变与家族性结肠和乳腺癌相关。
Fam Cancer. 2011 Mar;10(1):27-35. doi: 10.1007/s10689-010-9371-4.
6
Germline mutation analysis of hPMS2 gene in Chinese families with hereditary nonpolyposis colorectal cancer.中国遗传性非息肉病性结直肠癌家系 hPMS2 基因胚系突变分析。
World J Gastroenterol. 2010 Aug 14;16(30):3847-52. doi: 10.3748/wjg.v16.i30.3847.
7
Current hypotheses on how microsatellite instability leads to enhanced survival of Lynch Syndrome patients.关于微卫星不稳定性如何导致林奇综合征患者存活率提高的当前假说。
Clin Dev Immunol. 2010;2010:170432. doi: 10.1155/2010/170432. Epub 2010 Jun 10.
8
Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.林奇综合征患者发生尿路上皮膀胱癌的风险增加,尤其是 MSH2 突变携带者。
J Med Genet. 2010 Jul;47(7):464-70. doi: 10.1136/jmg.2010.076992.
9
Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome.意大利疑似林奇综合征的胰腺癌患者中胚系 MLH1 和 MSH2 突变。
Fam Cancer. 2009;8(4):547-53. doi: 10.1007/s10689-009-9285-1.
10
Selection of endometrial carcinomas for DNA mismatch repair protein immunohistochemistry using patient age and tumor morphology enhances detection of mismatch repair abnormalities.利用患者年龄和肿瘤形态学选择子宫内膜癌进行DNA错配修复蛋白免疫组化检测,可提高错配修复异常的检出率。
Am J Surg Pathol. 2009 Jun;33(6):925-33. doi: 10.1097/PAS.0b013e318197a046.

Lynch Syndrome Associated With PMS2 Mutation: Understanding Current Concepts.

作者信息

Gulati Shuchi, Gustafson Shanna, Daw Hamed A

出版信息

Gastrointest Cancer Res. 2011 Sep;4(5-6):188-90.

PMID:22295133
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3269140/
Abstract
摘要