scholarly journals Haplotypes associated to gene expression in breast cancer: can they lead us to the susceptibility markers?

2018 ◽  
Author(s):  
Hege Edvardsen ◽  
Bettina Kulle ◽  
Anya Tsalenko ◽  
Grethe Irene Grenaker Alnӕs ◽  
Fredrik Ekeberg Johansen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gene Expression ◽  
Cancer Patients ◽  
Haplotype Analysis ◽  
Cancer Susceptibility ◽  
Expression Patterns ◽  
Breast Cancer Patients ◽  
Haplotype Distribution ◽  
Significant Difference ◽  
History Of

AbstractWe have undertaken a systematic haplotype analysis of the positional type of biclusters analysing samples collected from 164 breast cancer patients and 86 women with no known history of breast cancer. We present here the haplotypes and LD patterns in more than 80 genes distributed across all chromosomes and how they differ between cases and controls. We aim by this to 1) identify genes with different haplotype distribution or LD patterns between breast cancer patients and controls and 2) to evaluate the intratumoral mRNA expression patterns in breast cancer associated particularly to the cancer susceptibility haplotypes. A significant difference in haplotype distribution between cases and controls was observed for a total of 35 genes including ABCC1, AKT2, NFKB1, TGFBR2 and XRCC4. In addition we see a negative correlation between LD patterns in cases and controls for neighboring markers in 8 genes such as CDKN1A, EPHX1 and XRCC1.

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 Exonic sequencing and MLH3 gene expression analysis of breast cancer patients

2021 ◽  
Vol 67 (3) ◽  
pp. 35-43
Author(s):  
Rozhgar A. Khailany ◽  
Mehmet Ozaslan
Keyword(s):  
Breast Cancer ◽  
Gene Expression ◽  
Exome Sequencing ◽  
Cancer Patients ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Breast Cancer Susceptibility ◽  
Breast Cancer Patients ◽  
Cancer Susceptibility Genes ◽  
Mlh3 Gene

Breast cancer is the most common cancer in women worldwide. Detection of breast cancer susceptibility genes is an important issue. Also, MLH3 is a DNA mismatch repair gene and mutation in this gene is harmful in different cancers. This study aimed to use exome sequencing to uncover previously undetected breast cancer-predisposing variants. Also, we investigated the MLH3 gene expression of breast cancer patients which can be a breast cancer susceptibility gene. A total of 80 samples including 40 paired normal and cancer tissue samples were collected at Zheen International Hospital, Erbil, Iraq. Exome sequencing was used to identify mutations. Different in silico tools were used to predict the effect of mutation on the structural features or protein function. Real-time PCR was used for assessing the expression of MLH3 in breast cancer patients. We identified 26 variants in breast cancer patients, 22 inherited variants were found in MLH3, CHECK2, BRCA1, BRCA2, BLM, TP53, MSH6, NBN and PTEN genes and 4 somatic variants were found in PALB2, RAD50 and RBM10 genes. It was found that the expression of the MLH3 gene in tumor samples was significantly down-regulated compared with normal tissues. Statistically, high significance was found. The decreased expression of MLH3 was significant in all ranges of ages and all breast cancer types. Also, the expression of MLH3 decreased significantly in patients with breast cancer grades of II and III. In conclusion, MLH3 can be used as a susceptibility gene especially in grades II and III of breast cancer.

scholarly journals TWIST1 Gene expression as a biomarker for predicting primary doxorubicin resistance in breast cancer

2019 ◽  
Vol 22 (2) ◽  
pp. 25-30
Author(s):  
S Demir ◽  
MH Müslümanoğlu ◽  
M Müslümanoğlu ◽  
S Başaran ◽  
ZZ Çalay ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gene Expression ◽  
Transcription Factor ◽  
Cancer Patients ◽  
Breast Tumors ◽  
Chemotherapeutic Agents ◽  
Primary Breast Tumor ◽  
Breast Cancer Patients ◽  
Significant Difference ◽  
Transcription Factor Expression

AbstractDoxorubicin is one of the most commonly used chemotherapeutic agents for adjuvant chemotherapy of breast cancer. In the studies focused on finding biomarkers to predict the response of the patients and tumors to the drugs used, the Twist transcription factor has been suggested as a candidate biomarker for predicting chemo-resistance of breast tumors. In this study, we aimed to investigate the relationship between TWIST transcription factor expression and the effectiveness of doxorubicin treatment on directly taken primary tumor samples from chemotherapy-naive breast cancer patients. Twenty-six primary breast tumor samples taken from 26 different breast cancer patients were included in this study. Adenosine triphosphate tumor chemo-sensitivity assay (ATP-TCA) has been used to determine tumor response to doxorubicin and real-time reverse-transcription polymerase chain reaction (RT-PCR) was used for analyzing the TWIST1 gene expression of tumors. There was a significant difference in TWIST gene expression between responder and non responder tumors (p <0.05). The TWIST gene expression of the drug-resistant group was higher than the responsive group. This difference was not dependent on the histopathological features of tumors. In conclusion, compatible with earlier studies that have been performed with cell lines, the current study supports the role of higher TWIST gene expression as a biomarker for predicting the response of breast tumors to chemo-therapeutic agent doxorubicin.

Prognostic Significance of GRP78 Expression Patterns in Breast Cancer Patients Receiving Adjuvant Chemotherapy

2011 ◽  
Vol 26 (3) ◽  
pp. 188-196 ◽  
Author(s):  
Mauricio Z. Baptista ◽  
Luis Otavio Sarian ◽  
José Vassallo ◽  
Glauce A. Pinto ◽  
Fernando A. Soares ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Endoplasmic Reticulum ◽  
Adjuvant Chemotherapy ◽  
Cell Membrane ◽  
Cancer Patients ◽  
Expression Patterns ◽  
Prognostic Significance ◽  
Disease Free Survival ◽  
Breast Cancer Patients ◽  
Significant Difference

This study examined the associations between GRP78 expression and breast cancer recurrence and survival in patients treated with anthracyclines in the adjuvant setting. GRP78 expression was assessed in 106 stage II/III breast cancer patients. Tissue microarray was used to perform immunohistochemistry and to determine the GRP78 expression in endoplasmic reticulum and cell membrane of breast tumors. Four distinct scenarios (low and high thresholds) were developed. For high thresholds, 16% and 40% of our cases were GRP78-positive for endoplasmic reticulum and cell membrane, respectively. For low thresholds, 74% and 87% of our cases were GRP78-positive for endoplasmic reticulum and cell membrane, respectively. In the endoplasmic reticulum high-threshold scenario, GRP78 positive was found to be significantly frequent in T3 tumors (p=0.02), and inversely related to ERBB2 overexpression (p=0.03). There was a lower proportion of GRP78-positive cases among women between 50 and 65 years of age (p=0.02). In the endoplasmic reticulum low-threshold scenario, the proportion of GRP78-positive cases was significantly higher in women younger than 50 years and in those who were premenopausal (p=0.04). No statistically significant difference was found in survival probabilities among the scenarios examined. In our cohort, GRP78 overexpression was not a predictor of overall or disease-free survival of patients receiving anthracycline-based adjuvant chemotherapy.

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