共查询到20条相似文献,搜索用时 15 毫秒
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Lindsay A. Brown Karynn Johnson Samuel Leung Tarek A. Bismar Javier Benítez William D. Foulkes David G. Huntsman 《Breast cancer research and treatment》2010,121(2):347-354
Amplification of chromosome 11q13 is commonly seen in breast carcinomas and candidate genes from this region include CCND1 and EMSY. Here, we investigate the prognostic significance of CCND1 and EMSY amplification in a large series of breast carcinomas and in BRCA1 and BRCA2 mutation positive breast cancers. Amplification
of CCND1 and EMSY was assessed by fluorescent in situ hybridization. Both CCND1 and EMSY amplifications were associated with a significantly worse outcome in ER-positive patients treated with tamoxifen only, in
contrast to nonamplified tumors (P = 8.55 × 10−4 and P = 8.35 × 10−5, respectively). In multivariable Cox models, which included standard prognostic markers, co-amplification of CCND1 and EMSY was significantly more predictive of outcome than was amplification of either gene alone or neither gene amplified in ER-positive
tamoxifen-treated patients (P = 5.47 × 10−5). EMSY gene amplification was a significantly less common event in BRCA2 mutation carriers as compared to BRCA1 mutation carriers
(9 versus 24%, respectively). In contrast, CCND1 amplification occurred at a similar frequency in both BRCA1 and BRCA2 breast cancers (22 versus 18%, respectively). In summary,
co-amplification of CCND1 and EMSY identified a poor prognostic subset of ER-positive tamoxifen-treated patients. In addition, EMSY amplification occurred at a lower frequency in BRCA2 mutation carriers providing evidence to support EMSY amplification as a somatic surrogate for BRCA2 loss in sporadic breast cancer. 相似文献
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Zhong-Zhe Lin Yung-Ming Jeng Fu-Chang Hu Hung-Wei Pan Hsin-Wei Tsao Po-Lin Lai Po-Huang Lee Ann-Lii Cheng 《BMC cancer》2010,10(1):461
Background
To investigate the significance of Aurora B expression in hepatocellular carcinoma (HCC). 相似文献4.
We analyzed mutation of the APC, AXIN1, and GSK3genes in 14 pituitary adenomas with abnormal nuclear accumulations of CTNNB1. These tumors did not harbor mutation of the CTNNB1 gene. The genes analyzed encode proteins associated with ubiquitin-mediated degradation of CTNNB1. Although the regions encoding functional domains of these protein products were analyzed, no significant genetic alterations were found. Furthermore, the antibody for the C-terminus of APC detected normal expression of the APC protein in these pituitary adenomas. Our present results imply that an unknown mechanism(s) accelerates the accumulation of CTNNB1 that plays an important role in the pathogenesis of human pituitary adenomas. However, the possibility that mutation of regions outside of our survey or epigenetic mechanism play an important role cannot be excluded. 相似文献
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Flavia RM Latini Jefferson P Hemerly Beatriz CG Freitas Gisele Oler Gregory J Riggins Janete M Cerutti 《BMC cancer》2011,11(1):11
Background
Mounting evidence has indicated that ABI3 (ABI family member 3) function as a tumor suppressor gene, although the molecular mechanism by which ABI3 acts remains largely unknown. 相似文献7.
Laura C. Hautala Dario Greco Riitta Koistinen Tuomas Heikkinen Päivi Heikkilä Kristiina Aittomäki Carl Blomqvist Hannu Koistinen Heli Nevanlinna 《Breast cancer research and treatment》2011,128(1):85-95
Glycodelin (encoded by PAEP gene) is a secreted lipocalin protein mainly expressed in reproductive tissues, but also in several tumour types. In the
breast, glycodelin is expressed both in normal epithelial and cancerous tissue. To investigate the association of glycodelin
with clinicopathological features of breast cancer and outcome of patients we evaluated the protein expression of glycodelin
in a large series of breast tumours. Immunohistochemical analysis of tissue microarrays was used to study glycodelin expression
on 399 sporadic and 436 familial non-BRCA1/2 tumours with strong family history. Gene expression analysis was used to define genes co-expressed with PAEP in sporadic and familial non-BRCA1/2 breast tumours. In the sporadic series, the glycodelin expression associated with low proliferation rate (P < 0.001), with a tendency towards well-differentiated tumours (grades 1 and 2, P = 0.012) and high cyclin D1 (P = 0.034) expression. However, in familial non-BRCA1/2 cases with strong family history glycodelin expression associated with a less favourable phenotype, i.e. positive lymph node
status (P = 0.003) and HER2-positive tumours (P = 0.009). Moreover, the patients with glycodelin-positive tumours had an increased risk for distant metastases (P = 0.001) and in multivariate analysis glycodelin expression was an independent predictor of metastasis (hazard ratio (HR) = 2.22,
95% confidence interval (95% CI) = 1.22–4.03, P = 0.009) in familial non-BRCA1/2 breast cancer. Gene expression analysis further revealed different gene expression profiles correlating with the PAEP expression in the sporadic and familial non-BRCA1/2 breast cancers. Our findings suggest differential progression pathways in the sporadic and familial non-BRCA1/2 breast tumours expressing glycodelin. 相似文献
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Slattery ML Sweeney C Wolff R Herrick J Baumgartner K Giuliano A Byers T 《Breast cancer research and treatment》2007,104(2):197-209
Background An insulin-related pathway to breast cancer has been hypothesized.
Methods We examine the 19 CA repeat of the IGF1 gene, the -202 C > A IGFBP3, the G972R IRS, and the G1057D IRS2 polymorphisms among 1,175 non-Hispanic white (NHW) and 576 Hispanic newly diagnosed breast cancer cases and 1,330 NHW and
727 Hispanic controls living in Arizona, Colorado, New Mexico, and Utah.
Results Among post-menopausal women not recently exposed to hormones, not having the 19 CA repeat of IGF1 gene was associated with breast cancer among NHW women [odds ratio (OR) 2.14, 95% confidence interval (CI) 1.21–3.79] and
having an R allele of G972R IRS1 increased breast cancer risk among Hispanic women (OR 2.70, 95% CI 1.13–6.46). Among post-menopausal Hispanic women recently
exposed to hormones the A allele of the -202 C > A IGFBP3 polymorphism increased risk of breast cancer (OR 1.57, 95% CI 1.06–2.33). The IGF1 19 CA repeat polymorphism interacted with hormone replacement therapy (HRT) among NHW post-menopausal women; women who had
the 19/19 IGF1 genotype were at reduced risk of breast cancer (OR 0.64, 95% CI 0.47–0.88) if they did not use HRT. We also observed interaction
between body mass index and IGF1 19 CA repeat (p=0.06) and between weight gain and the -202 C > A IGFBP3 polymorphism (p=0.05) in NHW post-menopausal women not recently exposed to hormones.
Conclusions Our data suggest that associations between insulin-related genes and breast cancer risk among women living in the Southwestern
United States may be dependent on estrogen exposure and may differ by ethnicity. 相似文献
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Francisco Acevedo Zhengyi Deng Victor D. Armengol Kevin Hughes 《Current breast cancer reports》2018,10(2):74-82
Purpose of Review
The use of panel testing of multiple cancer-causing genes has allowed to find a subset of patients with harmful mutations in moderate penetrance genes. While extensive information is available regarding patients with BRCA1 and BRCA2 pathogenic variants, information regarding these less common genes and their management remains scarce. The aim of this review is to discuss penetrance, incidence, and management recommendations for PALB2, ATM, and CHEK2.Recent Findings
NCCN guidelines now provide management recommendation for patients with pathogenic variants in these genes. In addition, more widespread testing has provided more information on penetrance and incidence. Although this is a huge step toward improving quality of care, prospective studies are still needed. We summarize the NCCN and other guidelines/suggestions for these genes and deliver our insight on the matter based on the best information we could find.Summary
PALB2, ATM, and CHEK2 are less penetrant than BRCA1–2 and have a different spectrum, suggesting differing management. Data about incidence and penetrance along with management recommendations for these genes are provided.10.
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Hoda Radmanesh Tessa Spethmann Julia Enßen Peter Schürmann Sabin Bhuju Robert Geffers Natalia Antonenkova Elza Khusnutdinova Ariane Sadr-Nabavi Fatemeh Homaei Shandiz Tjoung-Won Park-Simon Peter Hillemanns Hans Christiansen Natalia Bogdanova Thilo Dörk 《Breast cancer research and treatment》2017,162(1):31-37
Purpose
APOBEC3B belongs to the family of DNA-editing enzymes. A copy number variant targeting the genomic APOBEC3A-APOBEC3B locus has a significant impact on breast cancer risk, but the relative contribution of APOBEC3B is uncertain. In this study, we investigate a loss-of-function mutation that selectively targets APOBEC3B, for its association with breast cancer risk.Methods
We performed exome sequencing on genomic DNA samples of 6 Byelorussian patients with familial breast cancer. We then studied through mutation-specific genotyping four hospital-based breast cancer case–control series from Belarus, Russia, Germany, and Iran, respectively, comprising a total of 3070 breast cancer patients and 2878 healthy females. Results were evaluated using fixed-effects meta-analyses.Results
Exome sequencing uncovered a frameshift mutation, APOBEC3B*c.783delG, that was recurrent in the study populations. Subsequent genotyping identified this mutation in 23 additional breast cancer cases and 9 healthy female controls, with an adjusted Odds Ratio 2.29 (95% CI 1.04; 5.03, P = 0.04) in the combined analysis. There was an enrichment of the c.783delG mutation in patients with breast cancer diagnosed below 50 years of age (OR 3.22, 95% CI 1.37; 7.56, P = 0.007).Conclusions
APOBEC3B*c.783delG showed evidence of modest association with breast cancer and seemed to contribute to earlier onset of the disease. These results may need to be reconciled with proposals to consider APOBEC3B as a possible therapeutic target in breast cancer.12.
Elevated mammaglobin (<Emphasis Type="Italic">h-MAM</Emphasis>) expression in breast cancer is associated with clinical and biological features defining a less aggressive tumour phenotype 总被引:6,自引:0,他引:6 下载免费PDF全文
Núñez-Villar MJ Martínez-Arribas F Pollán M Lucas AR Sánchez J Tejerina A Schneider J 《Breast cancer research : BCR》2003,5(3):R65-R70
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Ming Wu Shuho Semba Naohide Oue Nobunao Ikehara Wataru Yasui Hiroshi Yokozaki 《Gastric cancer》2004,7(4):246-253
Background The BRAF and K-ras genes are the most frequently mutated oncogenes in various human malignancies. We examined BRAF and K-ras mutations in human gastric cancer, and investigated their relationship with microsatellite instability (MSI) and the hypermethylation of promoter regions in hMLH1 and O
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-methylguanine DNA methyltransferase (MGMT).Methods Sixteen gastric cancer cell lines and 62 gastric cancer tissue samples were screened for BRAF and K-ras mutations by direct sequencing. We also performed a microsatellite assay and investigated methylation status in the promoter regions of hMLH1 and MGMT.Results mutation was not found in any of the cancer cell lines examined. One (1.6%) cancer tissue sample showed a point mutation in the BRAF gene (GT_G GA_G; V599E). K-ras mutation (GG_T GA_T, G12D) was detected in five (31%) gastric cancer cell lines and in 1 (1.6%) gastric cancer tissue sample. In the gastric cancer tissue samples examined, MSI was detected in 23 (37%) samples. Hypermethylated promoter regions in hMLH1 and MGMT, respectively, were detected in 6 (10%) and 13 (21%) gastric cancer tissue samples. Microsatellite stable (MSS) tumors showed frequent lymphatic invasion (P = 0.050).Conclusion Although BRAF mutation has been reported in a variety of other human cancers, it is a rare event in the carcinogenesis and progression/development of gastric cancer. 相似文献
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Katsumata K Sumi T Tomioka H Aoki T Koyanagi Y 《International journal of clinical oncology / Japan Society of Clinical Oncology》2003,8(6):352-356
Background We investigated the influence of genes on the apoptosis of colorectal tumor cells, based on DNA and mRNA kinetics.Methods In 30 colorectal cancer patients, we examined the mRNA expression of p53, bax, bcl-2, and p21
WAF1
, and we also investigated the development of tumor cell apoptosis, using a terminal deoxynucleotidyl transferase (TdT)-mediated dUTP-biotin nick-end labeling (TUNEL) method.Results TUNEL-positive cells showed a positive correlation with bax (P = 0.010) and a negative correlation with p21 (P = 0.04). We also investigated the relationship between p53 point mutation, p21 immunostaining degree, and apoptosis, based on DNA ladder expression. A remarkable correlation (P = 0.0090) was found between p21 and apoptosis.Conclusions The present study findings suggest that tumor cell apoptosis is (1) strongly inhibited by p21, (2) induced by bax, and (3) influenced by bcl-2, which, presumably, inhibits tumor cell apoptosis. 相似文献
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Choi DH Cho DY Lee MH Park HS Ahn SH Son BH Haffty BG 《Breast cancer research and treatment》2008,112(3):569-573
The germline CHEK2 1100delC mutation is a low penetrance breast cancer susceptibility allele, frequently observed in patient with family history
of breast cancer and/or young age and the frequency varied according to race or ethnicity. In this study, we evaluated the
significance of CHEK2 1100delC in predisposition to breast cancer by assessing its frequency in a material of 493 Korean breast cancer patients
who had been screened for BRCA1 and BRCA2 mutations (42 patients had deleterious mutation of BRCA1/2). Mutation detection of CHEK2 1100delC was based upon analysis of primer extension products generated for previously amplified genomic DNA using a chip
based MALDI-TOP mass spectrometry platform. After overall measurement automatically, assays which had bad peaks were checked
again manually. None of the 493 Korean patients with breast cancer who were candidate for BRCA1 and BRCA2 test carried the 1100delC mutation observed in Caucasians with limited frequency. In the previous studies, we observed higher
or comparable prevalence of BRCA1 and BRCA2 mutations in Korean patients with breast cancer compared to Caucasian breast cancer population. In the present study, we
evaluated the role of a CHEK2 1100delC as a susceptibility mutation of breast cancer in the Korean population. However, our results suggest that this mutation
is absent or may be very infrequent in Korean patients with breast cancer who have high risk of BRCA1 and BRCA2 mutation, making its screening irrelevant from the practical point view. 相似文献
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<Emphasis Type="Italic">IGFBP3</Emphasis>mRNA expression in benign and malignant breast tumors 下载免费PDF全文
Introduction
Most previous studies have focused on evaluating the association between circulating insulin-like growth factor binding protein 3 (IGFBP-3) levels and breast cancer risk. Emerging evidence over the past few years suggests that IGFBP-3 may act directly on mammary epithelial cells. 相似文献18.
Background
Pituitary tumor transforming gene (PTTG) is a novel oncogene that is expressed abundantly in most tumors. Overexpression of PTTG induces cellular transformation and promotes tumor formation in nude mice. PTTG has been implicated in various cellular processes including sister chromatid separation during cell division as well as induction of apoptosis through p53-dependent and p53-independent mechanisms. The relationship between PTTG and p53 remains unclear, however. 相似文献19.
Scrideli CA Carlotti CG Mata JF Neder L Machado HR Oba-Sinjo SM Rosemberg S Marie SK Tone LG 《Journal of neuro-oncology》2007,83(3):233-239
Overexpression of the EGFR, IGFBP-2 and HIF-2A genes has been observed in high-grade astrocytomas and these genes seem to be functionally related to one another. This study
aimed to define the profile of their expressions, interactions and correlation with clinical features and prognostic significance
in microdissected tumor samples from 84 patients with astrocytomas of different grades and from 6 white matter non-neoplasic
brain tissue sample. EGFR, IGFBP-2 and HIF-2A gene expression levels were analyzed by quantitative real-time PCR and differed significantly between grades I–IV astrocytic
tumors (P < 0.0001, P < 0.0001 and P: 0.0013, respectively) when analyzed by the Kruskal–Wallis test. Grade I astrocytomas presented gene expression levels similar
to those encountered in samples of microdissected white matter of non-neoplastic brain tissue Overexpression of the EGFR, IGFBP-2 and HIF-2A genes was significantly associated with lower 2-year survival (P: 0.009, P: 0.0002 and P: 0.008, respectively). Co-overexpression of these genes was strongly associated with high-grade gliomas and lower survival
in univariate (P < 0.0001) and multivariate (P: 0.009) analysis, suggesting that the co-expression of the EGFR/IGFBP-2/HIF-2A pathway genes may have a more important clinical and biological impact than the expression of each individual gene alone.
These data support the existence of a common pathway involving these genes that could contribute to the design of new target
treatments. 相似文献
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Genetic variants of <Emphasis Type="Italic">CYP3A5</Emphasis>, <Emphasis Type="Italic">CYP2D6</Emphasis>, <Emphasis Type="Italic">SULT1A1</Emphasis>, <Emphasis Type="Italic">UGT2B15</Emphasis> and tamoxifen response in postmenopausal patients with breast cancer 总被引:2,自引:0,他引:2 下载免费PDF全文
Wegman P Elingarami S Carstensen J Stål O Nordenskjöld B Wingren S 《Breast cancer research : BCR》2007,9(1):R7