Superior survival of breast cancer BRCA1 /2 mutation carriers harboringG/G at the -309 position at the MDM2 promoter compared to those harboring T/T or G/T at this SNP

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 10600-10600
Author(s):  
H. Nechushtan ◽  
T. Hamburger ◽  
S. Mendelson ◽  
L. Kadouri ◽  
N. Sharon ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Germ Line ◽  
Age Of Onset ◽  
Disease Onset ◽  
Rank Test ◽  
Breast Cancer Patients ◽  
Mdm2 Snp309 ◽  
Li Fraumeni Syndrome ◽  
Mutation Carriers

10600 Background: A germ line single polymorphism in the promoter of the gene encoding the important modulator of P53, MDM2 has been described. The findings of G/G nucleotides at this position in contrast to G/Tor T/T were demonstrated to increase MDM2 transcriptional levels and were correlated with younger onset of cancers in patients with the Li-Fraumeni syndrome. Furhtermore gastric cancer patients harboring T/T at this position and treated with chemotherapy were found to have decresed survival compared to the other SNP carriers. P53 mutations appear in high frequency in tumors associated with BRCA1/2 mutations. Indeed it has been suggested that mutations in the p53 gene are a necessary step in tumorigenesis in BRCA tumors. Methods: Here we investigate the effect of the MDM2 SNP309 on overall survival and age of onset in breast cancer patients. MDM2 SNP309 was evaluated in Breast cancer Ashkenazy patients analyzed for the three common mutations in BRCA1/2- 180 patients who are positive for either of these mutation and 272 negative ones. 194 negative, Disease onset age and survival were analyzed for the different subgroups Results: Around a quarter of the whole population analyzed were identified as carriers of G/G at the -309 MDM2. There was no correlation between age of disease onset in either BRCA1/2mutation carriers and the specific genotype. In the BRCA1/2 mutation carriers we found a survival advantage in patients harboring the SNP309 G/G genotype(p-0.001 log rank test). Such an effect was not demonstrated in patients tested negative for the known Ashkenazy mutations Conclusions: In specific subgroups of breast cancer patients SNP309 G/G is associated with improved patient survival. A possible explanation for this finding could be the presence of a P53 which can be reactivated in the MDM2 SNP309 G/G carriers. No significant financial relationships to disclose.

scholarly journals Impact of BRCA Mutation on the Survival and Risk of Contralateral Breast Cancer in Asian Breast Cancer Patients

2021 ◽  
Author(s):  
Po-Han Lin ◽  
Shin-Cheh Chen ◽  
Ling-Ming Tseng ◽  
King-Jen Chang ◽  
Ai-Chu Huang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Triple Negative Breast Cancer ◽  
Contralateral Breast Cancer ◽  
Triple Negative ◽  
Age Of Onset ◽  
Brca Mutation ◽  
Contralateral Breast ◽  
Breast Cancer Patients ◽  
Mutation Carriers

Abstract Purpose Breast cancer is increasing around the globe, including Asia. We aimed to examine the survival and risk of contralateral breast cancer (CBC) in Asian breast cancer patients with BRCA mutations. MethodsA total of 128 breast cancer patients with germline BRCA mutations and 4,754 control breast cancer patients were enrolled. Data on clinical pathologic characteristics, survival and CBC were collected from the medical record. The rates of survival and CBC were estimated by Kaplan-Meier method. Results The mean age of onset in BRCA mutation carriers was significantly younger than control patients (BRCA vs. Non-BRCA: 43.9 vs. 53.2 years-old). BRCA mutation carriers had a higher proportion of triple-negative breast cancer (TNBC) (52%) than control patients (12%, p<0.001). The risk of CBC was significantly higher in BRCA mutation patients than in control cases (hazard ratio (HR) = 3.95, 95% CI 2.71-5.75); when stratified by genotype, the HRs (95%CI) were 4.84 (3.00-7.82) for BRCA1 and 3.13 (1.78-5.49) for BRCA2 carriers, respectively. Moreover, BRCA1 mutation patients with triple-negative breast cancer (TNBC) as their first breast cancer had the highest risk of CBC (HR = 5.55, 95% CI 3.29-9.34). However, we did not observe any differences in relapse-free survival and overall survival between mutation carriers and control patients. ConclusionOur study suggest that BRCA patients had a significantly higher risk of developing CBC, particularly for BRCA1 mutation carriers with TNBC as the first breast cancer.

Correlation of AGR2 expression with the incidence of metastasis in luminal breast cancer

2021 ◽  
pp. 1-5
Author(s):  
David Samuel Kereh ◽  
John Pieter ◽  
William Hamdani ◽  
Haryasena Haryasena ◽  
Daniel Sampepajung ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Mean Value ◽  
Rank Test ◽  
Luminal Breast Cancer ◽  
P Value ◽  
Strong Positive Correlation ◽  
Breast Cancer Patients ◽  
The Mean ◽  
Spearman Test

BACKGROUND: AGR2 expression is associated with luminal breast cancer. Overexpression of AGR2 is a predictor of poor prognosis. Several studies have found correlations between AGR2 in disseminated tumor cells (DTCs) in breast cancer patients. OBJECTIVE: This study aims to determine the correlation between anterior Gradient2 (AGR2) expression with the incidence of distant metastases in luminal breast cancer. METHODS: This study was an observational study using a cross-sectional method and was conducted at Wahidin Sudirohusodo Hospital and the network. ELISA methods examine AGR2 expression from blood serum of breast cancer patients. To compare the AGR2 expression in metastatic patients and the non-metastatic patient was tested with Mann Whitney test. The correlation of AGR2 expression and metastasis was tested with the Rank Spearman test. RESULTS: The mean value of AGR2 antibody expression on ELISA in this study was 2.90 ± 1.82 ng/dl, and its cut-off point was 2.1 ng/dl. Based on this cut-off point value, 14 subjects (66.7%) had overexpression of AGR2 serum ELISA, and 7 subjects (33.3%) had not. The mean value AGR2 was significantly higher in metastatic than not metastatic, 3.77 versus 1.76 (p < 0.01). The Spearman rank test obtained a p-value for the 2 tail test of 0.003 (p < 0.05), which showed a significant correlation of both, while the correlation coefficient of 0.612 showed a strong positive correlation of AGR2 overexpression and metastasis. CONCLUSIONS: AGR2 expression is correlated with metastasis in Luminal breast cancer.

scholarly journals Surgery for primary tumor benefits survival for breast cancer patients with bone metastases: a large cohort retrospective study

BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhangheng Huang ◽  
Xin Zhou ◽  
Yuexin Tong ◽  
Lujian Zhu ◽  
Ruhan Zhao ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Prognostic Factors ◽  
Bone Metastases ◽  
Cancer Patients ◽  
Primary Tumor ◽  
Predictive Accuracy ◽  
Rank Test ◽  
Breast Cancer Patients ◽  
Risk Of Death ◽  
The Impact

Abstract Background The role of surgery for the primary tumor in breast cancer patients with bone metastases (BM) remains unclear. The purpose of this study was to determine the impact of surgery for the primary tumor in breast cancer patients with BM and to develop prognostic nomograms to predict the overall survival (OS) of breast cancer patients with BM. Methods A total of 3956 breast cancer patients with BM from the Surveillance, Epidemiology, and End Results database between 2010 and 2016 were included. Propensity score matching (PSM) was used to eliminate the bias between the surgery and non-surgery groups. The Kaplan-Meier analysis and the log-rank test were performed to compare the OS between two groups. Cox proportional risk regression models were used to identify independent prognostic factors. Two nomograms were constructed for predicting the OS of patients in the surgery and non-surgery groups, respectively. In addition, calibration curve, receiver operating characteristic (ROC) curve, and decision curve analysis (DCA) were used to evaluate the performance of nomograms. Result The survival analysis showed that the surgery of the primary tumor significantly improved the OS for breast cancer patients with BM. Based on independent prognostic factors, separate nomograms were constructed for the surgery and non-surgery groups. The calibration and ROC curves of these nomograms indicated that both two models have high predictive accuracy, with the area under the curve values ≥0.700 on both the training and validation cohorts. Moreover, DCA showed that nomograms have strong clinical utility. Based on the results of the X-tile analysis, all patients were classified in the low-risk-of-death subgroup had a better prognosis. Conclusion The surgery of the primary tumor may provide survival benefits for breast cancer patients with BM. Furthermore, these prognostic nomograms we constructed may be used as a tool to accurately assess the long-term prognosis of patients and help clinicians to develop individualized treatment strategies.

scholarly journals FOLLOW-UP OF PATIENTS AND PROGNOSTIC IMPACT OF TUMOUR MARKER CA 15-3 ON PATIENTS OF BREAST CANCER: A RETROSPECTIVE COHORT STUDY

2020 ◽  
Vol 8 (11) ◽  
pp. 656-660
Author(s):  
Anjali Vinocha ◽  
Keyword(s):  
Breast Cancer ◽  
Cohort Study ◽  
Cancer Patients ◽  
Retrospective Cohort Study ◽  
Retrospective Cohort ◽  
Relative Survival ◽  
Rank Test ◽  
Prognostic Impact ◽  
Breast Cancer Patients

Introduction:Breast cancer is the most common cancer in women, with 5- and 10-year relative survival rates are 91% and 84%, respectively for women with invasive breast cancer. This study aimed to detect the role of serum breast cancer marker CA 15-3 for early detection of metastasis, relapse or recurrence for management of breast cancer patients. Methods: It was a retrospective cohort study with a total of 132 breast cancer patients from the year 2010 to march 2020 were taken and followed up. For these patients demographic, biochemical parameters, radiological and clico-pathological data were collected and analysed. Result: The mean age at the time of presentation and mean duration of follow-up was 47 years and 31 months respectively. There was elevation in the serum level of CA 15-3 at the time of diagnosis of metastasis, recurrence or residual disease in 41 patients. This shows that sensitivity of elevated CA 15-3 (> 30 IU/ml) level in Ca Breast patients was 84%, 75 % and 75 % with respect to metastasis, recurrence and relapse. Log Rank test Chi- square value was 7.39 which was statistically significant (p=0.007). Cox proportional hazard model was created for effect of age at presentation, CA 15-3 at the time of diagnosis and MRM on distant metastasis and was statistically significant (p=0.037). Conclusion: We recommend that for the management of breast cancer patients, Cancer antigen (CA 15-3) levels can be used as prognostic marker for early diagnosis of metastasis, recurrence or relapse.

scholarly journals P4: CIRCULATING MIRNA PROFILES POINT TO DYSREGULATION IN TGFBETA/SMAD3 TUMOR SUPPRESSOR SIGNATURE IN BRCA POSITIVE BREAST CANCER PATIENTS

2016 ◽  
Vol 64 (3) ◽  
pp. 818.2-818
Author(s):  
I Shapira ◽  
T Bhuiya ◽  
S Arora ◽  
N Mukhi ◽  
S Datla ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Tumor Suppressor ◽  
Real Time ◽  
Cancer Patients ◽  
Survival Data ◽  
Real Time Pcr ◽  
Germ Line ◽  
Germline Mutations ◽  
Breast Cancer Patients ◽  
Mean Differences

Purpose of StudyOver 240,000 individuals are diagnosed with breast cancer (BrCa) of which 12,000 individuals carry BRCA germline mutations. MicroRNA dysregulation is common in malignancy and may correlate with germline mutations.Aims:1. Analyze microRNAs in patients with breast cancer with or without BRCA germ line mutations, with and without cancer.2. Identify molecular BRCA mutant patients to deduct reasons for accelerated malignancy.Methods UsedWe analyzed plasma miR expression from 94 br cancer patients (41 BRCA positive) relative to 24 normal controls. All samples were collected between 2010 and 2014 and survival data was known for all cancer patients. TaqMan Open Array panel was used to simultaneously run hundreds of microRNA assays in the Applied Biosystem Open array real time PCR. Using AB open array real time PCR, 756 miRNA species were detected. Two-sample t-test was used for all 2-sample comparison and ANOVA followed by Tukey HSD post-hoc test to compare the miRs mean differences. All tests were 2-tailed and results with a p<0.05 were considered statistically significant.Summary of ResultsBRCA+underexpressed hsa-mir-10a and hsa-mir-376c and over-expressed Hsa- mir- 326 and Hsa-mir-143 relative to BRCA-; p<0.05.Using Coremine data mining linking genes and diseases differentially expressed circulating miRs are linked to tumor suppressor TGFbeta/SMAD3.ConclusionsThe early onset of breast cancer in BRCA mutant patients may recapitulate the pro-oncogenic effects of TGF-β. The context dependent SMAD3 binding & tumor suppression TGF-β effects are abrogated in BRCA mutant patients. TGF-β/Smad3 tumor-suppressor signature suppresses local inflammation in the tumor microenvironment.

Adjuvant Chemotherapy Guidance for pT1-3N0-1 Breast Cancer Patients with HR+, HER2- subtype: a study based on SEER database

2021 ◽  
Author(s):  
juanjuan Qiu ◽  
Li Xu ◽  
Yu Wang ◽  
Jia Zhang ◽  
Jiqiao Yang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Prognostic Factors ◽  
High Risk ◽  
Cancer Patients ◽  
Risk Group ◽  
High Risk Group ◽  
Low Risk ◽  
Rank Test ◽  
Breast Cancer Patients ◽  
Group Score

Abstract Background Although the results of gene testing can guide early breast cancer patients with HR+, HER2- to decide whether they need chemotherapy, there are still many patients worldwide whose problems cannot be solved well by genetic testing. Methods 144 735 patients with HR+, HER2-, pT1-3N0-1 breast cancer from the Surveillance, Epidemiology, and End Results database were included from 2010 to 2015. They were divided into chemotherapy (n = 38 392) and no chemotherapy (n = 106 343) group, and after propensity score matching, 23 297 pairs of patients were left. Overall survival (OS) and breast cancer-specific survival (BCSS) were tested by Kaplan–Meier plot and log-rank test and Cox proportional hazards regression model was used to identify independent prognostic factors. A nomogram was constructed and validated by C-index and calibrate curves. Patients were divided into high- or low-risk group according to their nomogram score using X-tile. Results Patients receiving chemotherapy had better OS before and after matching (p < 0.05) but BCSS was not significantly different between patients with and without chemotherapy after matching: hazard ratio (HR) 1.005 (95%CI 0.897, 1.126). Independent prognostic factors were included to construct the nomogram to predict BCSS of patients without chemotherapy. Patients in the high-risk group (score > 238) can get better OS HR 0.583 (0.507, 0.671) and BCSS HR 0.791 (0.663, 0.944) from chemotherapy but the low-risk group (score ≤ 238) cannot. Conclusion The well-validated nomogram and a risk stratification model was built. Patients in the high-risk group should receive chemotherapy while patients in low-risk group may be exempt from chemotherapy.

scholarly journals Cognitive Performance and Psychological Distress in Breast Cancer Patients at Disease Onset

2019 ◽  
Vol 10 ◽  
Author(s):  
Jochen Kaiser ◽  
Jörg Dietrich ◽  
Miena Amiri ◽  
Isa Rüschel ◽  
Hazal Akbaba ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Psychological Distress ◽  
Cancer Patients ◽  
Cognitive Performance ◽  
Disease Onset ◽  
Breast Cancer Patients

Survival in women with breast cancer having children with pediatric tumors—-A nationwide cancer register study

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 20071-20071
Author(s):  
H. Olsson ◽  
A. Bladström
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Census Data ◽  
Breast Cancer Diagnosis ◽  
Population Based ◽  
Breast Cancer Patients ◽  
Genetic Syndromes ◽  
Li Fraumeni Syndrome ◽  
Pediatric Sarcomas ◽  
Hereditary Factors

20071 Background: Breast cancer is a heterogenous disease with a minoruty of cases having a hereditary background. Hereditary factors could affect disease prognosis and it has been postulated that breast cancer patients having p53 germline mutations have an especially bad prognosis. In the present study survival has been compared in women with breast cancer with and without having a child with a pediatric tumour. Methods: Using and linking the population based fertility registry and cancer registry the offspring of all women with breast cancer diagnosed between 1961–1999 was traced in Sweden. All women with breast cancer with a pregnancy were included. Further all childhood cancer cases < 21 years of age were identified among the offspring. Likewise using census data the women’s overall survival was followed. Results: Patients with breast cancer having a child with a childhood malignancy (n = 254) had a significant worse survival compared with other women with breast cancer (n = 74,781), RR = 1.25, 95% CI 1.02–1.55, p < 0.04, adjusted for age at diagnosis, year of diagnosis, parity and time since last pregnancy. Mothers with children with pediatric sarcomas or acute myeloid leukemias seemed to be strongest associated with a worse survival in the mother (RR = 1.38 and RR = 1.69). The worse survival of the mother was present regardless if the breast cancer diagnosis was before or after 50 years of age. Conclusion: The results suggest that genetic syndromes such as the Li-Fraumeni syndrome and possibly other childhood/adult cancer syndromes if present worsens the survival for breast cancer patients. This familial factor may be of importance for future treatment stratification. It is unknown whether other tumor diseases in the mother may be associated with a worse survival if their children have had cancer. No significant financial relationships to disclose.

scholarly journals GENOME-WIDE ASSOCIATION STUDY OF LOSS OF HETEROZYGOSITY AND METASTASIS-FREE SURVIVAL IN BREAST CANCER PATIENTS

2017 ◽  
Vol 39 (2) ◽  
pp. 145-150 ◽  
Author(s):  
I V Deryusheva ◽  
M M Tsygano ◽  
E Y Garbukov ◽  
M K Ibragimova ◽  
Ju G Kzhyshkovska ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Loss Of Heterozygosity ◽  
Genome Wide Association Study ◽  
Malignant Tumors ◽  
Chromosome Analysis ◽  
Rank Test ◽  
Breast Cancer Patients ◽  
Free Survival ◽  
Genome Wide

One of the factors providing the diversity and heterogeneity of malignant tumors, particularly breast cancer, are genetic variations, due to gene polymorphism, and, especially, the phenomenon of loss of heterozygosity (LOH). It has been shown that LOH in some genes could be a good prognostic marker. Aim: To perform genome-wide study on LOH in association with metastasisfree survival in breast cancer. Materials and Methods: The study involved 68 patients with breast cancer. LOH status was detected by microarray analysis, using a high density DNA-chip CytoScanTM HD Array (Affymetrix, USA). The Chromosome Analysis Suite 3.1 (Affymetrix, USA) software was used for result processing. Results: 13,815 genes were examined, in order to detect LOH. The frequency of LOH varied from 0% to 63%. The association analysis identified four genes: EDA2R, PGK1, TAF9B and CYSLTR1 that demonstrated the presence of LOH associated with metastasis-free survival (log-rank test, p < 0.03). Conclusions: The presence of LOH in EDA2R, TAF9B, and CYSLTR1 genes is associated with metastasis-free survival in breast cancer patients, indicating their potential value as prognostic markers.

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