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Background
BRCA1 and BRCA2 are the two most important genes associated with familial breast and ovarian cancer susceptibility. In addition, PALB2 has recently been identified as a breast cancer susceptibility gene in several populations. Here we have evaluated whether large genomic rearrangement in these genes could explain some of Finnish breast and/or ovarian cancer families. 相似文献3.
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Vallian Sadeq Nassiri Isar Tavassoli Manoochehr 《Medical oncology (Northwood, London, England)》2011,28(2):420-423
PTEN/MMAC1/TEP1 encodes a tumor suppressor protein, which regulates cell cycle progression, translation, and apoptosis by blocking the activation
of Akt/PKB. The loss of PTEN function increases cell survival and induces tumor invasion. In this study, PTEN promoter status and its correlation with genetic and pathologic parameters were analyzed in genomic DNA from Iranian patients
with breast cancer. DNA methylation patterns in the CpG islands were determined by a methylation-specific PCR (MSP) assay.
PTEN promoter methylation was found to be present in 37 of 53(70%) tumor tissues and none in 20 normal counterparts. Moreover,
promoter methylation was found in patients with heterozygote mutation in the PTEN gene. The pathological history of cancerous tissue sections showed that PTEN gene could be inactivated at the stages III and IV in sporadic breast cancer. These findings suggested that promoter hypermethylation
of PTEN might contribute to the progression of sporadic breast cancer in human. 相似文献
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<Emphasis Type="Italic">BRCA1</Emphasis>mutation analysis in breast and ovarian cancer families from Greece 下载免费PDF全文
I Konstantopoulou C Croupis A Ladopoulou A Pantazidis E Lianidou K Venetsanou E Efstathiou M Petersen J Janinis G Fountzilas E Chiotellis D Yannoukakos 《Breast cancer research : BCR》2000,2(1):P1.05
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BRCA1 and BRCA2 genes have a high allelic heterogeneity. The knowledge of the most prevalent mutations and their geographical distribution
can be useful in designing efficient mutational screening. In the present work we reviewed the frequency of BRCA1 and BRCA2 recurrent mutations in seven geographic areas of Spain to evaluate the effects of their heterogeneous prevalence in genetic
testing. We observed that prevalence of recurrent mutations vary according to the geographical origin of the studied families,
and accounted for a variable number of positive families depending on the series. Therefore, more upcoming data of larger
Spanish population cohorts collected from different areas in the country will allow to design a wider comprehensive panel
of recurrent mutations that may be applicable worldwide to families with Hispanic origin. 相似文献
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Yixing Jiang Heath Mackley Hua Cheng Jaffer A. Ajani 《Current colorectal cancer reports》2010,6(4):206-211
Ras and Raf proteins are two major players in the MAP kinase pathway. They are crucial downstream regulators of multiple receptor
tyrosine kinase-mediated cell growth, transformation, and maintenance of the malignant phenotype in human cancers. Mutations
have been identified in K-Ras and B-Raf in patients with colorectal cancer. Clinical studies in colorectal cancers demonstrate that the therapeutic efficacy of cetuximab,
a chimeric monoclonal antibody against epidermal growth factor receptor, depends on the presence of wild-type K-Ras. However, mutations in B-Raf do not predict cetuximab resistance. These observations have led to the use of K-Ras as a predictive biomarker, allowing clinicians to direct the therapy of cancer patients based on their K-Ras mutational status. 相似文献
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Histopathological features of breast tumours in <Emphasis Type="Italic">BRCA1</Emphasis>, <Emphasis Type="Italic">BRCA2</Emphasis> and mutation-negative breast cancer families 下载免费PDF全文
Introduction
Histopathological features of BRCA1 and BRCA2 tumours have previously been characterised and compared with unselected breast tumours; however, familial non-BRCA1/2 tumours are less well known. The aim of this study was to characterise familial non-BRCA1/2 tumours and to evaluate routine immunohistochemical and pathological markers that could help us to further distinguish families carrying BRCA1/2 mutations from other breast cancer families.Methods
Breast cancer tissue specimens (n = 262) from 25 BRCA1, 20 BRCA2 and 74 non-BRCA1/2 families were studied on a tumour tissue microarray. Immunohistochemical staining of oestrogen receptor (ER), progesterone receptor (PgR) and p53 as well as the histology and grade of these three groups were compared with each other and with the respective information on 862 unselected control patients from the archives of the Pathology Department of Helsinki University Central Hospital. Immunohistochemical staining of erbB2 was also performed among familial cases.Results
BRCA1-associated cancers were diagnosed younger and were more ER-negative and PgR-negative, p53-positive and of higher grade than the other tumours. However, in multivariate analysis the independent factors compared with non-BRCA1/2 tumours were age, grade and PgR negativity. BRCA2 cases did not have such distinctive features compared with non-BRCA1/2 tumours or with unselected control tumours. Familial cases without BRCA1/2 mutations had tumours of lower grade than the other groups.Conclusions
BRCA1 families differed from mutation-negative families by age, grade and PgR status, whereas ER status was not an independent marker.15.
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Sang-Geun Jang Il-Jin Kim Hio Chung Kang Hye-Won Park Sun-A Ahn Hyun-Ju Yoon Kun Kim Hai-Rim Shin Jin Soo Lee Jae-Gahb Park 《BMC cancer》2007,7(1):16
Background
Glutathione S -transferases are a group of enzymes that participate in detoxification and defense mechanisms against toxic carcinogens and other compounds. These enzymes play an important role in human carcinogenesis. In the present study, we sought to determine whether GSTT2 promoter single nucleotide polymorphisms (SNPs) are associated with colorectal cancer risk. 相似文献18.
Angelo Zullo Cesare Hassan Alessandro Andriani Francesca Cristofari Chiara Bassanelli Gian Paolo Spinelli Silverio Tomao Sergio Morini 《Medical oncology (Northwood, London, England)》2010,27(2):291-295
The most favourable therapeutic strategy for gastric MALT-lymphoma not responding to Helicobacter pylori eradication still remains unclear, neither official guidelines nor randomised studies being available. We therefore performed
a systematic review of the literature to evaluate the efficacy of different therapeutic approaches in these patients. Data
regarding 315 patients were valuable, and lymphoma remission following the first therapeutic attempt was achieved in 90.1%
cases. The most used therapy was radiotherapy (112 patients), followed by surgery (80 patients) and chemotherapy (68 patients),
whilst a combination therapy was less frequent. Radiotherapy achieved a higher remission rate as compared to chemotherapy
(97.3 vs. 85.3%; P = 0.007), being similar to surgery (97.3 vs. 92.5%; P = 0.2). No difference emerged when comparing lymphoma remission rate achieved by a single therapy with that of combined treatments
(89.6 vs. 96.4%; P = 0.6). This is the first pooled-data analysis assessing the efficacy of different oncologic therapeutic approaches to treat
gastric MALT-lymphoma unresponsive to H. pylori eradication. Radiotherapy seems to be the most suitable treatment in these patients. 相似文献
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Background
The host immunogenetic background plays an important role in the development of breast cancer. Cytotoxic T-lymphocyte antigen-4 (CTLA-4) is a molecule expressed predominantly on activated T cells and is important during the down-regulation of T-cell activation. To evaluate the potential influences of CTLA-4 gene polymorphisms on breast cancer risk, a case-control study was conducted in Han women of Northeast China. 相似文献20.
Outi Kilpivaara Matias Rantanen Anitta Tamminen Kristiina Aittomäki Carl Blomqvist Heli Nevanlinna 《BMC cancer》2008,8(1):71