scholarly journals Genetic susceptibility to radiation-induced breast cancer after Hodgkin lymphoma

Blood ◽  
2019 ◽  
Vol 133 (10) ◽  
pp. 1130-1139 ◽  
Author(s):  
Annemieke W. J. Opstal-van Winden ◽  
Hugoline G. de Haan ◽  
Michael Hauptmann ◽  
Marjanka K. Schmidt ◽  
Annegien Broeks ◽  
...  

Abstract Female Hodgkin lymphoma (HL) patients treated with chest radiotherapy (RT) have a very high risk of breast cancer. The contribution of genetic factors to this risk is unclear. We therefore examined 211 155 germline single-nucleotide polymorphisms (SNPs) for gene-radiation interaction on breast cancer risk in a case-only analysis including 327 breast cancer patients after chest RT for HL and 4671 first primary breast cancer patients. Nine SNPs showed statistically significant interaction with RT on breast cancer risk (false discovery rate, <20%), of which 1 SNP in the PVT1 oncogene attained the Bonferroni threshold for statistical significance. A polygenic risk score (PRS) composed of these SNPs (RT-interaction-PRS) and a previously published breast cancer PRS (BC-PRS) derived in the general population were evaluated in a case-control analysis comprising the 327 chest-irradiated HL patients with breast cancer and 491 chest-irradiated HL patients without breast cancer. Patients in the highest tertile of the RT-interaction-PRS had a 1.6-fold higher breast cancer risk than those in the lowest tertile. Remarkably, we observed a fourfold increased RT-induced breast cancer risk in the highest compared with the lowest decile of the BC-PRS. On a continuous scale, breast cancer risk increased 1.4-fold per standard deviation of the BC-PRS, similar to the effect size found in the general population. This study demonstrates that genetic factors influence breast cancer risk after chest RT for HL. Given the high absolute breast cancer risk in radiation-exposed women, these results can have important implications for the management of current HL survivors and future patients.

2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Jing Zhou ◽  
Lijuan Wang ◽  
Sijun Liu ◽  
Wen Zhou ◽  
Yue Jiang ◽  
...  

MicroRNAs (miRNAs) of the miR-30 family are closely linked with tumor metastasis and play key roles in the complex malignant phenotypes of cancers by targeting many tumor-related genes. Deregulated expression of miR-30 family members has been commonly observed in breast cancer. However, associations between the genetic variants in the regulatory region of miR-30 family and the risk of breast cancer are still limited, especially in the Chinese Han population. In the present study, we conducted a case-control analysis wherein 1064 breast cancer patients and 1073 healthy controls underwent genotyping of 10 SNPs in the regulatory region of miR-30 family members. Multivariate logistic regression analyses illustrated that the rs763354 variant in the miR-30a regulatory region was linked with a significant decrease in breast cancer risk in an additive model (adjusted OR=0.86, 95% CI: 0.75-0.98, P=0.022). Further, eQTL analyses also indicated that this SNP was associated with miR-30a expression levels in breast cancer samples compiled in the TCGA database (P=0.020). The Kaplan-Meier plotter showed that breast cancer patients with higher miR-30a expression have significantly better outcomes than do patients expressing low levels of this miRNA (HR=0.75, 95% CI: 0.61-0.91, P=0.0041). Together, these findings suggest that the miR-30a rs763354 SNP is an important regulator of breast cancer risk, thus making it a potentially viable prognostic biomarker and one that can be used to guide therapeutic treatment in affected patients.


2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Wen-Ke Cai ◽  
Jia-Bin Zhang ◽  
Niu-Min Wang ◽  
Ying-Lin Wang ◽  
Can-Hu Zhao ◽  
...  

Histamine H2receptor (HRH2) was previously suggested to affect the proliferation of breast cancer cells and disease-free survival of breast cancer patients. Furthermore, a common polymorphism, rs2067474, was identified in an enhancer element of theHRH2gene promoter and was reported to be associated with various diseases including cancer. However, the relationship between this polymorphism and breast cancer risk and malignant degree remains unclear. The aim of this study was to clarify the clinical association of rs2067474 polymorphism with breast cancer. A total of 201 unrelated Chinese Han breast cancer patients and 238 ethnicity-matched health controls were recruited and rs2067474 polymorphism was genotyped. Logistic regression analyses were performed to calculate the odds ratios (ORs) as a measure of association of genotype with breast cancer according to 3 genetic models (dominant, recessive, and additive). Although the percentage of hormone receptor negative cases tended to be higher in AA genotypes, we did not find any significant associations of rs2067474 polymorphism with breast cancer risk or with related clinicopathological parameters in the present study, which indicates that rs2067474 polymorphism ofHRH2gene might not be a risk factor in the development of breast cancer in Chinese Han population.


Author(s):  
Sule Olgun ◽  
Berna Dizer

Abstract Background Breast cancer risk increases by 80% in the presence of BRCA1 and BRCA2 gene mutations in the same family. In particular, a woman whose sister or mother has breast cancer has a 2- to 5-fold higher risk of developing breast cancer compared with other women. For this reason, recommendations should have been made regarding breast cancer prevention and/or early detection for women with first-degree family history of breast cancer. Aim The aim of this study was to evaluate the effect of health education, which was provided to first-degree female relatives of breast cancer patients, on their health beliefs and behaviors. Study Design and Methods The study sample included 50 women with a first-degree relative being treated for breast cancer in the chemotherapy and radiotherapy unit of a university hospital. A one-group pretest-posttest design was used. The pretest consisted of the health belief model scale and a questionnaire regarding the women’s sociodemographic information and breast cancer screening behaviors. After the pretest, the patients received health education regarding breast cancer risk factors and screening methods. The posttest was conducted 3 weeks after the education using the same assessment tools. Results After education, there were statistically significant increases in rates of practicing breast self-examination, having clinical breast examinations, and undergoing breast ultrasound/mammography compared with pretest results. Conclusions Health workers should possess knowledge and experience about breast cancer which will enable them to effectively undertake an educational role, especially for high-risk groups such as women with first-degree family history of breast cancer.


2019 ◽  
Vol 10 (1) ◽  
pp. 175-183 ◽  
Author(s):  
Isabelle Touwendpoulimdé Kiendrebeogo ◽  
Abdou Azaque Zoure ◽  
Pegdwendé Abel Sorgho ◽  
Albert Théophane Yonli ◽  
Florencia Wendkuuni Djigma ◽  
...  

AbstractBackground and objectiveBreast cancer remains the most common cause of cancer mortality in women. The aim of this study was to investigate associations between genetic variability in GSTM1 and GSTT1 and susceptibility to breast cancer.MethodsGenomic DNA was extracted from blood samples for 80 cases of histologically diagnosed breast cancer and 100 control subjects. Genotyping analyses were performed by PCR-based methods. Associations between specific genotypes and the development of breast cancer were examined using logistic regression to calculate odds ratios [1] and 95% confidence intervals (95%CI).ResultsNo correlation was found between GSTM1-null and breast cancer (OR = 1.83; 95%CI 0.90-3.71; p = 0.10), while GSTT1-null (OR = 2.42; 95%CI 1.17-5.02; p= 0.01) was associated with increased breast cancer risk. The GSTM1/GSTT1 double null was not associated with an increased risk of developing breast cancer (OR = 2.52; 95%CI 0.75-8.45; p = 0.20). Furthermore, analysis found no association between GSTM1-null (OR =1.12; 95%CI 0.08-15.50; p = 1.00) or GSTT1-null (OR = 1.71; 95%CI 0.13-22.51; p = 1.00) and the disease stage of familial breast cancer patients or sporadic breast cancer patients (GSTM1 (OR = 0.40; 95%CI 0.12-1.32; p = 0.20) and GSTT1 (OR = 1.41; 95%CI 0.39-5.12; p = 0.75)). Also, body mass index (BMI) was not associated with increased or decreased breast cancer risk in either GSTM1-null (OR = 0.60; 95%CI 0.21-1.68; p = 0.44) or GSTT1-null (OR = 0.60; 95%CI 0.21-1.68; p =0.45).ConclusionOur results suggest that only GSTT1-null is associated with increased susceptibility to breast cancer development.


2020 ◽  
Author(s):  
Mark van Barele ◽  
Delal Akdeniz ◽  
Bernadette AM Heemskerk-Gerritsen ◽  
Margreet HA Baaijens ◽  
Margriet GA Sattler ◽  
...  

2010 ◽  
Vol 4 ◽  
pp. BCBCR.S5248 ◽  
Author(s):  
Megumi Kuchiki ◽  
Takaaki Hosoya ◽  
Akira Fukao

We investigated the relationship between mammary gland volume (MGV) of the breast as measured with three-dimensional chest computed tomography (CT) and breast cancer risk. Univariate analysis was used to assess the relationship between MGV and known risk factors in 427 healthy women. A case control study (97 cases and 194 controls) was conducted to assess breast cancer risk. MGV was significantly smaller for postmenopausal women than for premenopausal women, and was significantly larger for women with a family history of breast cancer than for women without. MGV, body mass index (BMI), and rate of family history of breast cancer were significantly higher among breast cancer patients than among healthy women, and number of deliveries was significantly lower among breast cancer patients. In postmenopausal women, age at menarche was significantly younger for breast cancer patients. MGV correlated well with breast cancer risk factors. The highest odds ratio was 4.9 for premenopausal women with the largest MGV. Regardless of menopausal status, the greater the MGV, the higher the odds ratio. Our results constitute the first reliable data on the relationship between MGV and breast cancer obtained through exact volume analysis.


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