Polymorphisms in Cancer Susceptibility Genes XRCC1, RAD51 and TP53 and the Risk of Breast Cancer in Serbian Women

2016 ◽  
Vol 31 (3) ◽  
pp. 258-263 ◽  
Author(s):  
Ana M. Krivokuca ◽  
Milena R. Cavic ◽  
Emina J. Malisic ◽  
Jelena D. Rakobradovic ◽  
Daniela Kolarevic-Ivankovic ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Hereditary Breast Cancer ◽  
Odds Ratio ◽  
Protective Role ◽  
Genotype Distribution ◽  
Breast Cancer Patients ◽  
Significant Difference ◽  
Young Breast Cancer

Background Thanks to immense improvements in technology over the past few decades, we have witnessed a major shift towards the idea that breast cancer results from a combined effect of multiple common alleles conferring low risk. This study investigates the role of 3 nonsynonymous SNPs in the DNA repair genes XRCC1 (R399Q), RAD51 (G135C) and TP53 (Arg72Pro) in breast cancer in Serbian women. Patients and Methods Cases of BRCA1/2-negative hereditary breast cancer (n = 52), sporadic breast cancer (n = 106) and age-matched cancer-free female controls (n = 104) were obtained from the Institute for Oncology and Radiology of Serbia's blood bank. Restriction fragment length polymorphism analysis was used for genotyping. Descriptive analyses included genotype and allelic frequencies; the odds ratio and 95% confidence interval were calculated as an estimate of the relative risk. Results A significant difference in QQ+RQ versus RR genotype distribution of XRCC1 was observed between hereditary breast cancer patients and cancer-free controls. The association was confirmed among young breast cancer patients from these high-risk families. The existence of 3 recessive alleles in the RAD51 and XRCC1 genotype combination showed an association with hereditary breast cancer. Odds ratio analysis indicated a strong protective role of the RAD51 GG + TP53 ArgArg + XRCC1 RR combined genotype against hereditary breast cancer negative for BRCA1/2 mutations. Conclusions The XRCC1 R399Q polymorphism showed an association with increased breast cancer risk in Serbia, especially in the hereditary form of the disease and in young breast cancer patients. Dominant alleles of RAD51, TP53 and XRCC1 combined genotypes indicated a strong protective role against hereditary breast cancer.

Chemotherapy-induced ovarian failure in young breast cancer patients: The role of vascular toxicity.

2014 ◽  
Vol 32 (15_suppl) ◽  
pp. 9595-9595
Author(s):  
Irit Ben-Aharon ◽  
Tal Granot ◽  
Israel Meizner ◽  
Shulamith Rizel ◽  
Rinat Yerushalmi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Ovarian Failure ◽  
Breast Cancer Patients ◽  
Vascular Toxicity ◽  
Young Breast Cancer

Molecular evaluation of HIF-1α gene variation and determination of its frequency, and association with Breast Cancer susceptibility in Saudi Arabia

2020 ◽  
Vol 20 ◽  
Author(s):  
Rashid Mir ◽  
Faisel M. Abu-Duhier ◽  
Ibrahim Altedlawi Albalawi
Keyword(s):  
Breast Cancer ◽  
Saudi Arabia ◽  
Cancer Patients ◽  
Genotype Distribution ◽  
Breast Cancer Patients ◽  
Data Set ◽  
Gene Variation ◽  
Increased Risk ◽  
Significant Difference ◽  
Inheritance Model

Aim: Hypoxia-inducible factor 1 (HIF-1) is responsible in regulating oxygen homeostasis in tissues. HypoxiaInducible Factor α (HIF1-α) is a central effector of the hypoxic response. HIF-1α protein overexpression has been shown to have prognostic relevance in breast cancer. HIF-1α polymorphism is associated with increased breast susceptibility reported by several case controls studies but results remained controversial. Therefore, we studied the relationship between the HIF1α gene polymorphism with the breast cancer risk in Saudi Arabia. Methods: This study was consisted of 114 histologically confirmed Breast cancer patients and 117 sex -matched healthy women. HIF-1α genotyping was done by Amplification refractory mutation system PCR method. The HIF-1α gene genotypes were correlated with different clinicopathological characteristics of breast cancer patients. Results: A significant difference was observed in genotype distribution of HIF-1α gene variation C1772T between breast cancer cases and sex matched healthy controls (p=0.001). Our findings showed that the HIF- 1α variant was associated with an increased risk of Breast cancer for HIF-1α CC vs CT genotype OR = 0. 38, 95% CI = (0. 22 -0. 65), P = 0.005) in codominant inheritance model. The significant association was reported for HIF1A for genotypes CC vs (CT+ TT) OR = 0. 39, 95% CI = (0. 231 -0. 67), P = 0.007) in dominant inheritance model tested. In case of recessive inheritance model, a significant association of HIF-1 alpha gene variants was reported for CC VS -(CC+ CT) vs TT) OR = 3.10, 95% CI = (0. 12- 77.03), P = 0.56). During the allelic comparison, A allele significantly increased the risk of Breast cancer with odd ratio (OR = 0. 66, 95% CI = 0. 53 -1. 21, P = 0.04) and risk ratio RR= 0. 51 (0. 32 -0. 80) P= 0.004). A significant association of HIF1α polymorphism was reported with stage as well as distant metastasis of the disease. Conclusion: A significant association of HIF- 1α-CT heterozygosity and T allele significantly increased the susceptibility and is associated with the metastasis of Breast cancer. Further studies with larger data set and well-designed models are required to validate our findings.

scholarly journals Inherited thrombophilic risk factors in Serbian breast cancer patients

Genetika ◽  
2019 ◽  
Vol 51 (2) ◽  
pp. 463-472
Author(s):  
Iva Pruner ◽  
Branko Tomic ◽  
Marija Dragojevic ◽  
Maja Gvozdenov ◽  
Mirjana Kovac ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Factors ◽  
Cancer Patients ◽  
Cancer Susceptibility ◽  
Mthfr C677t ◽  
Control Group ◽  
Gene Variants ◽  
Breast Cancer Patients ◽  
Significant Difference

Breast cancer is the leading cause of cancer-related death among women. An increased burden of thrombotic events among breast cancer patients, leading to higher mortality and morbidity rates, is well established. There are a number of genetic risk factors associated with thrombosis, but their contribution to thrombotic tendencies in patients with cancer is not completely elucidated. We aimed to investigate possible role of FV Leiden, FII G20210A, MTHFR C677T and PAI-1 4G/5G gene variants in etiopathology of breast cancer and accompanying thrombosis in cohort of Serbian patients. Our study included 316 subject divided in three groups: breast cancer patients with (97) or without (99) accompanying thrombosis and healthy control group (120). According to our results, the prevalence for all four prothrombotic gene variants were similar in cancer patients with and without thrombosis and no statistically significant difference was observed between these groups. We detected lower frequency of MTHFR 677TT genotype in breast cancer patients when compared to control group (P=0.014; OR=0.145 (95%CI 0.031-0.679)), indicated that MTHFR C677T homozygosity could play a protective role in breast cancer susceptibility. Our study noted the lack of association between common prothrombotic gene variants and increased prothrombotic risk in Serbian breast cancer patients. Also, our results point out possible role of MTHFR 677TT genotype in etiology of breast cancer, but further studies on larger cohort of patients are needed.

scholarly journals Preferences for learning different types of genome sequencing results among young breast cancer patients: Role of psychological and clinical factors

2018 ◽  
Vol 8 (1) ◽  
pp. 71-79 ◽  
Author(s):  
Kimberly A Kaphingst ◽  
Jennifer Ivanovich ◽  
Sarah Lyons ◽  
Barbara Biesecker ◽  
Rebecca Dresser ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Genome Sequencing ◽  
Breast Cancer Patients ◽  
Clinical Factors ◽  
Different Types ◽  
Young Breast Cancer

National population-based study of racial variation in characteristics and outcomes of young breast cancer patients: Analysis of temporal trends.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e18068-e18068
Author(s):  
James Thompson McClain ◽  
Catalina Mosquera ◽  
Praveen Namireddy ◽  
Mahvish Muzaffar
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Statistical Significance ◽  
Temporal Trends ◽  
Poverty Line ◽  
Breast Cancer Patients ◽  
Black Patients ◽  
Significant Difference ◽  
Young Breast Cancer ◽  
White Patients

e18068 Background: Breast cancer outcomes correlate with racial and socioeconomic status. Efforts to reduce disparities in breast cancer among vulnerable populations has had limited success. We sought to examine trends of racial and socioeconomic factors and its impact on outcome in young breast cancer patients. Methods: Using the Surveillance, Epidemiology, and End Results database, we identified female patients aged 20-35 with invasive breast cancer diagnosed from 1990-2012. We performed univariate, multivariate and survival analysis. Variables included patient age, race, stage, receptor status, surgery type and year of diagnosis. Results: A total of 18,999 women were identified. Mean age was 31.7. 80.8% were white and 19.1% were black. A higher percentage of blacks had stage III/IV disease (34% v 27%) and ≥ 4 positive nodes (19% v 16%) compared to whites. 54% of whites were ER receptor positive while 46% of blacks were ER receptor positive (p<0.0001). Analysis of American Community Survey attributes indicated white patents were more likely to live in counties where ≤15% of households were below the poverty line (64% v 45%) and where ≤15% of the population had less than a high school education (35% v 28%) compared to blacks. 31.2% were diagnosed in 1990-2000 while 68.7% were diagnosed in 2001-2012. 5 year disease specific survival (DSS) was 79.1% among all patients diagnosed from 1990-2000 and 84.2% among patients diagnosed from 2001-2012 (p<0.0001). In each time period, white patients had significant difference in 5 year DSS compared to black patients. While the 5 year DSS for white patients improved from 80.9% to 86.3% (p<0.0001), the 5 year DSS improvement for black patients from 1990-2000 to 2001-2012 did not reach statistical significance (71.3% vs 75.7%, p=0.24). Conclusions: Demographic and economic factors are associated with outcomes in young breast cancer patients. Absolute DSS has improved over consecutive time periods, but the improvement was not significant among blacks. More effort is needed to evaluate and address disparity in these patients. [Table: see text]

scholarly journals Long‐Term Follow‐Up of Chemotherapy‐Induced Ovarian Failure in Young Breast Cancer Patients: The Role of Vascular Toxicity

2015 ◽  
Vol 20 (9) ◽  
pp. 985-991 ◽  
Author(s):  
Irit Ben‐Aharon ◽  
Tal Granot ◽  
Israel Meizner ◽  
Noa Hasky ◽  
Ana Tobar ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Ovarian Failure ◽  
Breast Cancer Patients ◽  
Vascular Toxicity ◽  
Long Term Follow Up ◽  
Young Breast Cancer
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