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1.
Lee KM Park SK Hamajima N Tajima K Yoo KY Shin A Noh DY Ahn SH Hirvonen A Kang D 《Breast cancer research and treatment》2005,90(2):149-155
Objective. The proliferation of malignant breast epithelial cells is regulated by various stimuli including cytokines and growth factors, thus the variants of those genes may modify the breast cancer risk. To evaluate the potential influences of TGF-1 T29C and TNF- A252G gene polymorphisms on breast cancer risk, a case–control study was conducted in Korea.Methods. Histologically confirmed breast cancer cases (n = 560) and controls (n=509) with no previous history of cancer were recruited from three teaching hospitals in Seoul, Korea. Genotypes were determined by PCR-CTPP (polymerase chain reaction with confronting two-pair primers) method. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression model adjusting for age, body mass index, education, parity, age at first full-term pregnancy, and family history of breast cancer. Results. The TGF-1 29C-allele containing genotypes posed an increased risk of breast cancer (OR=1.3, 95% CI=1.02–1.79), especially in postmenopausal women (OR=1.6, 95% CI=1.01–2.44). Similarly, the TNF- 252G-allele containing genotypes posed an increased risk of postmenopausal breast cancer (OR=1.7, 95% CI=1.09–2.55). The risk of postmenopausal breast cancer increased in parallel with the number of the risk genotypes (p for trend <0.01). When data were stratified by the presumed non-genetic risk factors, TGF-1 C-allele containing genotypes were found to increase breast cancer risk almost two-fold in postmenopausal women with greater than median body mass index (>22.8 kg/m2) (OR=1.9, 95% CI=1.04–3.37).Conclusion. The results of this study therefore suggest that polymorphisms of TGF-1 and TNF- genes may modify individual susceptibility to breast cancer in Korean women. 相似文献
2.
Common <Emphasis Type="Italic">ERBB2</Emphasis> polymorphisms and risk of breast cancer in a white British population: a case–control study 下载免费PDF全文
Introduction
About two-thirds of the excess familial risk associated with breast cancer is still unaccounted for and may be explained by multiple weakly predisposing alleles. A gene thought to be involved in low-level predisposition to the disease is ERBB2 (HER2). This gene is involved in cell division, differentiation, and apoptosis and is frequently amplified in breast tumours. Its amplification correlates with poor prognosis. Moreover, the coding polymorphism I655V has previously been associated with an increased risk of breast cancer. 相似文献3.
Zhang L Gu L Qian B Hao X Zhang W Wei Q Chen K 《Breast cancer research and treatment》2009,114(2):327-338
Estrogen plays a role in breast cancer development, and genetic polymorphisms in estrogen receptor gene ER-α and genes regulating estrogen biosynthesis and metabolisms are associated with the risk of breast cancer in women in western
countries. Therefore, we hypothesized that SNPs in ER-α and other estrogen-metabolizing genes contribute to breast cancer risk in Chinese women. In this study, we genotyped polymorphisms
in the regulatory regions of ER-α (rs3798577) and other two estrogen-metabolizing enzyme genes CYP17 (rs743572) and CYP19 (rs10046) among 300 breast cancer cases and 390 controls in a Chinese population. Crude and adjusted odds ratios (aORs) and
95% confidence intervals (CIs) were calculated by unconditional logistic regression analyses to estimate breast cancer risk
associated with these polymorphisms. We found that the T allele frequency of ER-α was significantly higher in cases (59.8%) than controls (54.5%) (P = 0.047), but no significant difference was found in the genotype distribution. However, postmenopausal breast cancer risk
was associated with the CYP17 TC genotype (aOR = 1.77, 95% CI = 1.11–2.83) compared with the TT genotype. The CYP19 variant TC + TT genotypes were associated with both overall cancer risk (TT + TC vs. TT aOR = 1.73, 95% CI = 1.13–2.65) and
premenopausal cancer risk (TT + TC vs. TT aOR = 1.78, 95% CI = 1.03–3.09), particularly for ER +/PR + tumors. Furthermore,
there were joint effects between CYP19 T and ER-α T varint genotypes (aOR = 1.67, 95% CI = 1.03–2.69 for CYP19 TC + TT vs. CC among ER-α T variant carriers) and between CYP19 T and CYP17 C variant genotypes (aOR = 1.77, 95% CI = 1.11–2.83 for CYP19 TC + TT vs. CC among CYP17 variant C carriers). This study provides evidence that polymorphisms CYP17 rs743572, CYP19 rs10046 and ER-α rs3798577 are associated with breast cancer risk among Chinese women. 相似文献
4.
5.
Comen E Davids M Kirchhoff T Hudis C Offit K Robson M 《Breast cancer research and treatment》2011,129(1):185-190
Approximately 10% of Ashkenazi Jewish (AJ) women with breast cancer (BC) carry a founder mutation in BRCA1 or BRCA2. There is an association between BRCA1 mutations and “triple-negative” breast cancer (TNBC) [estrogen receptor (ER) and progesterone receptor (PR) negative, HER2
negative]. We sought to determine the predictive value of the TNBC phenotype for the presence of a BRCA mutation in AJ women ascertained without respect to family history. DNA samples were collected between 8/2000 and 6/2004
from a prevalent cohort of unselected AJ women with breast cancer (median age at diagnosis 56 years). Samples (n = 451) were genotyped for AJ founder mutations. 352 (78.0%) cancers were ER positive, 254 (56.3%) PR positive, and 91 (20.2%)
ER negative/PR negative. 63 (14.0%) cancers were HER2 positive (immunohistochemistry 3+ or FISH >2.2). TNBC was observed in
64 patients (14.2%). Founder mutations were detected in 48 samples (10.6%) including 25/64 TNBC (39.1%; 19 BRCA1, 6 BRCA2). Among TNBC patients with family history (FH) information, 6/15 (40%) mutations were found in women without breast or ovarian
cancer in a close relative. The positive predictive value of TNBC for a BRCA1 mutation was 30% overall, 50% in women diagnosed<50 years, and 14% in women diagnosed ≥50. TNBC was significantly associated
with detecting a mutation in either BRCA1 or BRCA2, but only 25/52 (48%) mutation-associated cancers were TNBC. The prevalence of BRCA founder mutations exceeds 50% in subsets of AJ women with TNBC. FH is an imperfect predictor of mutation status in this group.
A significant number of mutation-associated TNBC are due to BRCA2. 相似文献
6.
Introduction Alcohol intake has been consistently associated with breast cancer risk, but the importance of timing of intake and the impact
of beverage type are unclear.
Methods We evaluated whether early, lifetime or recent alcohol intake was associated with breast cancer risk, and whether risk varied
by type of alcoholic drinks in 1,728 newly diagnosed population-based breast cancer patients and 435 control subjects aged
20–49 years. We used multivariable logistic regression models to estimate odds ratios (OR) and 95% confidence intervals (CI)
as measures of the relative risk of breast cancer associated with intake of alcoholic drinks.
Results Intake of alcoholic drinks during the recent five year period before the breast cancer diagnosis was associated with increased
breast cancer risk (P
trend = 0.04). Intake of two or more alcoholic drinks per day during this five year period was associated with an 82% increase
in breast cancer risk relative to never drinkers (OR = 1.82, 95% CI = 1.01–3.28). No risk increase was observed for alcohol
intake at ages 15–20 years or for lifetime alcohol intake. Risk did not vary by type of alcohol consumed.
Conclusions Our results suggest that recent alcohol consumption may be associated with increased breast cancer risk in young women. 相似文献
7.
8.
Polymorphisms of the DNA polymerase <Emphasis Type="Italic">β</Emphasis> gene in breast cancer 总被引:1,自引:0,他引:1
Sliwinski T Ziemba P Morawiec Z Kowalski M Zadrozny M Blasiak J 《Breast cancer research and treatment》2007,103(2):161-166
DNA polymerase β (Polβ) provides most of the gap-filling synthesis at apurinic/apyrimidine sites of damaged DNA in the base excision repair pathway.
Mutations in the gene encoding DNA polβ have been identified in various carcinomas. We performed a case–control study to test the association between two polymorphisms
in the polβ gene: a Pro → Arg change at codon 242 (the Pro242Arg polymorphism) and a Lys → Met change at codon 289 (the Lys289Met polymorphism)
and breast cancer risk and cancer progression. Genotypes were determined in DNA from peripheral blood lymphocytes of 150 breast
cancer patients and 150 cancer-free, age-matched women (controls) by PCR-RFLP. A strong association between breast cancer
occurrence and the Met/Met phenotype of the Lys289Met polymorphism [odds ratio (OR) 3.67; 95% confidence interval (CI) 1.87–7.56]
and the Pro/Arg phenotype of the Pro242Lys polymorphism (OR 1.96; 95% CI 1.15–3.34) was found. Polymorphism–polymorphism interaction
between the Met/Met phenotype of the Lys289Met and the Pro/Arg phenotype of the Pro242Arg variants increased the risk of breast
cancer (OR 3.05; 95% CI 1.31–7.09). We did not observe any correlation between studied polymorphisms and breast cancer progression
evaluated by node-metastasis, tumor size and Bloom–Richardson grading. In conclusion, Polβ may play a role in the breast carcinogenesis and the Lys289Met polymorphism of the polβ gene may be considered as an independent, early, molecular diagnostic marker in breast cancer. The Pro242Arg polymorphism
may contribute to the carcinogenesis through the interaction with the Lys289Met and therefore may be regarded as a dependent,
auxiliary marker. 相似文献
9.
Are <Emphasis Type="Italic">BRCA1</Emphasis>- and <Emphasis Type="Italic">BRCA2</Emphasis>-related breast cancers associated with increased mortality? 下载免费PDF全文
There has been contradictory evidence as to whether BRCA1 associated breast cancers have a poorer prognosis than non-BRCA1 cancers. In this issue of Breast Cancer Research Robson and colleagues provide further evidence for poorer survival in BRCA1 carriers and show that it could be attributed to failure to treat small node-negative grade 3 breast cancers with chemotherapy. There still remains little evidence for a survival difference for BRCA2 related breast cancers. Although the high contralateral breast cancer risk is confirmed by this study there is no real evidence for an increase in ipsilateral recurrence or new primary breast cancers in mutation carriers up to the 10-year point. 相似文献
10.
Julián Esteban Londo?o Hernández Marcia Llacuachaqui Gonzalo Vásquez Palacio Juan David Figueroa Jorge Madrid Mauricio Lema Robert Royer Song Li Garrett Larson Jeffrey N Weitzel Steven A Narod 《Hereditary cancer in clinical practice》2014,12(1):11
Background
Approximately 5% of all breast cancers can be attributed to a mutation in the BRCA1 or BRCA2 gene. The genetic component of breast cancer in Colombia has been, for the most part, studied on cases from the Bogota region. Five different founder mutations have been identified in two studies of breast cancer patients in the Bogota region. It is important that the frequency of mutations be established among unselected cases of breast cancer of other regions of Colombia in order to estimate the genetic burden of this cancer in Colombia and to plan genetic services. The aim of this study was to establish the mutation frequencies of the BRCA genes in breast cancer patients unselected for family history or age, from Medellin, Colombia.Methods
We enrolled 280 unselected women with breast cancer from a large public hospital in Medellin, Colombia. A detailed family history from each patient and a blood sample was obtained and processed for DNA analysis. Mutations in BRCA1 and BRCA2 were sought using a combination of techniques including a panel of recurrent Hispanic BRCA mutations which consists of fifty BRCA1 mutations and forty-six BRCA2 mutations, including the five recurrent Colombian BRCA mutations. All mutations were confirmed by direct sequencing.Results
Genetic testing was successfully completed for 244 of the 280 cases (87%). Among the 244 cases, three deleterious mutations were identified (two in BRCA1 and one in BRCA2), representing 1.2% of the total. The average age of breast cancer in the mutation-positive cases was 34 years. The two BRCA1 mutations were known founder mutations (3450del4 in exon 11 and A1708E in exon 18). The BRCA2 mutation was in exon 11 (5844del5) and has not been previously reported in individuals of Colombian descent. Among the three mutation-positive families was a breast cancer family and two families with no history of breast or ovarian cancer.Conclusion
The frequency of BRCA mutations in unselected breast cancer cases from the Medellin region of Colombia is low and is approximately 1.2%.11.
Maciej Jakub Żelazowski Elżbieta Płuciennik Grażyna Pasz-Walczak Piotr Potemski Radzisław Kordek Andrzej Kazimierz Bednarek 《Tumour biology》2011,32(3):551-560
The WWOX gene is a tumour suppressor gene affected in various types of malignancies. Numerous studies showed either loss or reduction
of the WWOX expression in variety of tumours, including breast, ovary, liver, stomach and pancreas. Recent study demonstrated that breast
cancer patients exhibiting higher WWOX expression showed significantly longer disease-free survival in contrast to the group with lower relative WWOX level. This work was undertaken to show whether similar phenomena take place in colon tumours and cell lines. To assess the
correlation of WWOX gene expression with prognosis and cancer recurrence in 99 colorectal cancer patients, we performed qRT-PCR analysis. We
also performed analysis of WWOX promoter methylation status using MethylScreen method and analysis of loss of heterozygosity (LOH) status at two WWOX-related loci, previously shown to be frequently deleted in various types of tumours. A significantly better disease-free survival was
observed among patients with tumours exhibiting high level of WWOX (hazard ratio = 0.39; p = 0.0452; Mantel–Cox log-rank test), but in multivariate analysis it was not an independent prognostic factor. We also found
that although in colorectal cancer WWOX expression varies among patients and correlates with DFS, the exact mode of decrease in this type of tumour was not found.
We failed to find the evidence of LOH in WWOX region, or hypermethylation in promoter regions of this gene. Although we provide the evidence for tumour-suppressive role
of WWOX gene expression in colon, we were unable to identify the molecular mechanism responsible for this. 相似文献
12.
Epplein M Nomura AM Hankin JH Blaser MJ Perez-Perez G Stemmermann GN Wilkens LR Kolonel LN 《Cancer causes & control : CCC》2008,19(8):869-877
Objective The risk factors most strongly associated with gastric cancer are the gastric bacteria Helicobacter pylori and diet. Utilizing data from a case–control study among residents in Hawaii, we examined the association of diet, presence
of H. pylori, and non-cardia gastric cancer risk.
Methods Serum taken at diagnosis for cases (n = 212) and at interview for controls (n = 336) was assayed for IgG antibodies to H. pylori group antigens and to a recombinant fragment of the cytotoxin-associated antigen A (CagA) protein, and subjects completed
food frequency questionnaires. Risk measures were calculated using logistic regression. The likelihood ratio test was used
to assess interactions.
Results Inverse associations were found between gastric cancer risk and increasing intake of several micronutrients and vegetables
among all individuals. For H. pylori/CagA-positive subjects, significant trends were present for total, green, and yellow vegetables, while a significant trend
was present only for yellow vegetables among H. pylori/CagA-negative individuals. For intestinal gastric cancer, there was a suggestion that intake of vegetables, especially cruciferous
vegetables, had a stronger protective effect for the H. pylori/CagA-positive group.
Conclusions Diet may play a greater role in the etiology of non-cardia gastric cancer among individuals with evidence of H. pylori infection than among those without.
G. N. Stemmermann is now deceased. 相似文献
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14.
Summary A proportion of breast cancers acquire genetic alterations at 17q11.2–q12 (HER-2/neu), 20q13.2 (ZNF217 gene) and 17p13.1 (p53). We describe a unique technique (Comet–FISH) in which we documented relative genetic instability at p53 and HER-2/neu gene loci within a panel of malignant breast cancer cell lines (MCF-7; MDA-MB-468 and CRL-2336). Furthermore, Comet–FISH data were consistent with preferential repair of the p53 locus following gentoxic insult and suggest that this assay may be quite useful for the study of genetic instability. 相似文献
15.
Hong CC Thompson HJ Jiang C Hammond GL Tritchler D Yaffe M Boyd NF 《Breast cancer research and treatment》2004,88(3):217-230
Mammographic density is associated with increased breast cancer risk and is influenced by sex hormones. A T27C polymorphism (alleles A1 and A2, respectively) in the 5 promoter region of CYP17 may be associated with elevated sex hormone levels. In a cross-sectional study of 181 pre- and 173 postmenopausal women, we examined the relationship of this polymorphism with mammographic density and other risk factors for breast cancer. Subjects were recruited across five categories of density. Risk factor and dietary information, anthropometric measures, and blood samples were obtained. Sex hormone, lipid, growth factor levels, and CYP17 genotypes were determined. CYP17 genotype was not associated with mammographic density levels before or after adjusting for risk factors for breast cancer. In premenopausal women, the A2 allele was associated with higher levels of dehydroepiandrosterone sulfate, and in postmenopausal women, with higher levels of total estradiol and lower levels of follicle stimulating hormone. Among premenopausal women, interactions were observed between CYP17 genotype and endogenous insulin levels as well as dietary variables associated with mammographic density. Our findings suggest that the CYP17 A2 allele is associated with hormone levels, and interacts with insulin levels and diet to affect breast density levels and potentially breast cancer risk. 相似文献
16.
Bernholtz S Laitman Y Kaufman B Shimon-Paluch S Friedman E 《Breast cancer research and treatment》2012,132(2):669-673
BRCA1 and BRCA2 mutation carriers have an increased risk for developing breast (and ovarian) cancer. Non-carriers from within such families
(=true negatives) are counseled that their risk for developing breast cancer is similar to that of the average-risk population.
Breast cancer diagnosed in a non-carrier from a family with a known mutation is coined phenocopy. The rate of breast cancer
phenocopy and the risk for breast cancer in true negatives are unsettled. The rate of phenocopy breast cancer was assessed
in non-carriers from Jewish families with a BRCA1 or BRCA2 mutation, identified at the Sheba medical center. Analysis was performed by t test for comparison of mean age at counseling or breast cancer diagnosis, and by calculating a standardized incidence ratio
(SIR). Overall, 1318 females from 884 mutation carrying families (620 with BRCA1 264 with BRCA2 mutations) were genotyped, of whom 307 women from 245 families were assigned a true negative status (mean age at counseling
43.01 ± 13.03 years (range 19.7–92.8 years). Of these true negatives, 20 women (6.51–2.26% of families) developed breast cancer
at a mean age of 54.1 ± 12.9 years (range 48.1 –60.1 years). The SIR for breast cancer in true negatives was not significantly
different than the expected in the average-risk Israeli population [observed 20-expected 23.8 cases SIR = 0.84, 95% CI (0.51,
1.30)]. The rate of phenocopy breast cancer in non-carriers from Israeli BRCA1
BRCA2 mutation carrier families is 2.26% with no increased breast cancer risk over the average-risk population. 相似文献
17.
<Emphasis Type="Italic">SULT1A1</Emphasis> genotype,active and passive smoking,and breast cancer risk by age 50 years in a German case–control study 下载免费PDF全文
Introduction
Sulfotransferase 1A1 (encoded by SULT1A1) is involved in the metabolism of procarcinogens such as heterocyclic amines and polycyclic aromatic hydrocarbons, both of which are present in tobacco smoke. We recently reported a differential effect of N-acetyltransferase (NAT) 2 genotype on the association between active and passive smoking and breast cancer. Additional investigation of a common SULT1A1 genetic polymorphism associated with reduced enzyme activity and stability might therefore provide deeper insight into the modification of breast cancer susceptibility. 相似文献18.
c-<Emphasis Type="Italic">myc</Emphasis>, not <Emphasis Type="Italic">her</Emphasis>-2/<Emphasis Type="Italic">neu</Emphasis>, can predict the prognosis of breast cancer patients: how novel,how accurate,and how significant? 下载免费PDF全文
The predictive and prognostic implication of oncogene amplification in breast cancer has received great attention in the past
two decades. her-2/neu and c-myc are two oncogenes that are frequently amplified and overexpressed in breast carcinomas. Despite the extensive data on these
oncogenes, their prognostic and predictive impact on breast cancer patients remains controversial. Schlotter and colleagues
have recently suggested that c-myc, and not her-2/neu, could predict the recurrence and mortality of patients with node-negative breast carcinomas. Regardless of the promising
results, caution should be exercised in the interpretation of data from studies assessing gene amplification without in situ analysis. We address the novelty, accuracy and clinical significance of the study by Schlotter and colleagues. 相似文献
19.
Geneviève Larouche Jocelyne Chiquette Jacques Simard Michel Dorval 《Familial cancer》2017,16(1):35-40
Little is known about the change in mammograms use by women after BRCA1/2 genetic testing. We compared the rate of bilateral mammograms after and prior to BRCA1/2 testing, according to test result. Information from the Quebec Health Insurance Board database was used to identify all registered mammograms delivered between May 1, 1998 and March 31, 2012 to a cohort of 396 unaffected French Canadian women tested for BRCA1/2 mutations. Mammograms incidence density ratios were calculated using the Cox proportional hazards model for repeated events. BRCA1/2 mutation carriers and women with an inconclusive result had more mammograms after, than prior to, genetic testing. Non-carriers did not receive more mammograms. The observed increase in mammography screening in BRCA1/2 carriers is consistent with the high risk of developing breast cancer in this group. The estimation of the cancer risk associated with an inconclusive result is based on familial cancer history, and women who received this result appear to have received follow-up as if at high risk. The fact that non-carriers did not change their use of mammograms after genetic testing may possibly reflect a ‘defensive medicine’ approach by some physicians or the women’s preference. 相似文献
20.
Chen Du Dorothea Mark Barbara Wappenschmidt Beatrix Böckmann Brigitte Pabst Saki Chan Han Cao Susanne Morlot Caroline Scholz Bernd Auber Kerstin Rhiem Rita Schmutzler Thomas Illig Brigitte Schlegelberger Doris Steinemann 《Breast cancer research and treatment》2018,169(3):561-571