Abstract：
:Germline mutations in genes encoding proteins involved in DNA mismatch repair are responsible for the autosomal dominantly inherited cancer predisposition syndrome hereditary nonpolyposis colorectal cancer (HNPCC). We describe here analysis of hMLH1 and hMSH2 in nine Greek families referred to our centre for HNPCC. A unique disease-causing mutation has been identified in seven out of nine (78%) families. The types of mutations identified are nonsense (five out of seven) (hMLH1: E557X, R226X; hMSH2: Q158X, R359X and R711X), a 2 bp deletion (hMSH2 1704_1705delAG) and a 2.2 kb Alu-mediated deletion encompassing exon 3 of the hMSH2 gene. The majority of mutations identified in this cohort are found in hMSH2 (77.7%). Furthermore, four of the mutations identified are novel. Finally, a number of novel benign variations were observed in both genes. This is the first report of HNPCC analysis in the Greek population, further underscoring the differences observed in the various geographic populations.
journal_name
Br J Cancerjournal_title
British journal of cancerauthors
Apessos A,Mihalatos M,Danielidis I,Kallimanis G,Agnantis NJ,Triantafillidis JK,Fountzilas G,Kosmidis PA,Razis E,Georgoulias VA,Nasioulas Gdoi
10.1038/sj.bjc.6602260subject
Has Abstractpub_date
2005-01-31 00:00:00pages
396-404issue
2eissn
0007-0920issn
1532-1827pii
6602260journal_volume
92pub_type
杂志文章abstract：:Development of thermotolerance is an important phenomenon that must be considered when thermochemotherapy with multiple heat treatments is used clinically. To study the effect of thermotolerance on cellular cisplatin (cDDP) sensitivity at 37 degrees C and 43 degrees C in cell lines with different cDDP sensitivities, t...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1995.100
更新日期：1995-03-01 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1981.97
更新日期：1981-05-01 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1992.219
更新日期：1992-07-01 00:00:00
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journal_title：British journal of cancer
pub_type： 临床试验,杂志文章
doi：10.1038/bjc.1995.255
更新日期：1995-06-01 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1995.124
更新日期：1995-03-01 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1973.9
更新日期：1973-01-01 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1981.95
更新日期：1981-05-01 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6600487
更新日期：2002-07-29 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6605993
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.2012.416
更新日期：2012-10-23 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6603677
更新日期：2007-04-10 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6604066
更新日期：2007-12-03 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6603415
更新日期：2006-11-06 00:00:00
abstract：BACKGROUND:Emergence of drug-resistant cancer phenotypes is a challenge for anti-cancer therapy. Cancer stem cells are identified as one of the ways by which chemoresistance develops. METHOD:We investigated the anti-inflammatory combinatorial treatment (DA) of doxorubicin and aspirin using a preclinical microfluidic m...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/s41416-018-0301-9
更新日期：2019-02-01 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1993.206
更新日期：1993-05-01 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6600577
更新日期：2002-11-04 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章,meta分析
doi：10.1038/bjc.2017.106
更新日期：2017-05-23 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1979.173
更新日期：1979-08-01 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6606085
更新日期：2011-03-01 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6602568
更新日期：2005-05-23 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1054/bjoc.2000.1394
更新日期：2000-10-01 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6604912
更新日期：2009-02-24 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1054/bjoc.2000.1364
更新日期：2000-09-01 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章,评审
doi：10.1054/bjoc.2000.1174
更新日期：2000-05-01 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.1986.158
更新日期：1986-07-01 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.2013.753
更新日期：2014-02-04 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/bjc.2017.89
更新日期：2017-05-09 00:00:00
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journal_title：British journal of cancer
pub_type： 杂志文章,meta分析
doi：10.1038/bjc.2017.262
更新日期：2017-10-10 00:00:00
abstract：BACKGROUND:This study aimed to evaluate the safety and efficacy of dose-dense weekly chemotherapy, followed by resection and/or thoracic radiotherapy. METHODS:Patients with histologically documented thymoma with unresectable stage III disease received 9 weeks of chemotherapy: cisplatin 25 mg m(-2) on weeks 1-9; vincri...
journal_title：British journal of cancer
pub_type： 杂志文章
doi：10.1038/sj.bjc.6605731
更新日期：2010-06-29 00:00:00
