Relationship of microRNA genes methylation level with their expression level and pathomorphological characteristics of breast cancer

Abstract Background Although APOBEC-mutational signature is found in tumor tissues of multiple cancers, how a common germline APOBEC3A/B deletion affects the mutational signature remains unclear. Methods Using data from 10 cancer types generated as part of TCGA, we performed integrative genomic and association analyses to assess inter-relationship of expressions for isoforms APOBEC3A and APOBEC3B, APOBEC-mutational signature, germline APOBEC3A/B deletions, neoantigen loads, and tumor infiltration lymphocytes (TILs). Results We found that expression level of the isoform uc011aoc transcribed from the APOBEC3A/B chimera was associated with a greater burden of APOBEC-mutational signature only in breast cancer, while germline APOBEC3A/B deletion led to an increased expression level of uc011aoc in multiple cancer types. Furthermore, we found that the deletion was associated with elevated APOBEC-mutational signature, neoantigen loads and relative composition of T cells (CD8+) in TILs only in breast cancer. Additionally, we also found that APOBEC-mutational signature significantly contributed to neoantigen loads and certain immune cell abundances in TILs across cancer types. Conclusions These findings reveal new insights into understanding the genetic, biological and immunological mechanisms through which APOBEC genes may be involved in carcinogenesis, and provide potential genetic biomarker for the development of disease prevention and cancer immunotherapy.

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Relationship of mammographic densities to breast cancer risk

Egyptian Journal of Radiology and Nuclear Medicine ◽

10.1186/s43055-021-00497-y ◽

2021 ◽

Vol 52 (1) ◽

Author(s):

Engy A. Ali ◽

Mariam Raafat

Keyword(s):

Breast Cancer ◽

Breast Density ◽

Statistical Significance ◽

Significant Risk ◽

Close Relation ◽

Mammographic Screening ◽

Mammographic Breast Density ◽

Study Results ◽

Relationship Of ◽

Mammographic Densities

Abstract Background Our goal was to find out the relation between mammographic densities and cancer of the breast according to the recent ACR classification. From the medical records of Kasereliny Hospital, 49,409 women were subjected to digital mammography for screening, of which 1500 breast cancer cases were collected. The mammographic categories of breast density were ACR-A, B, C, and D, which were detected by two senior radiologists. All radiological classifications were made using both standard mammographic views bilaterally. Two-sided tests of statistical significance were represented by all the P values. Results From 2014 to 2019, 49,409 women came for digital mammographic screening, their age ranges between 40 and 65, and all of them are included in the study. One thousand cases of breast cancer cases were radiologically and pathologically diagnosed. Different densities were arranged in descending pattern depending on the frequency of positive cases: D (13.7%), C (3.3%), B (2.7%), A (2.2%). There is positive significant risk ratio among every higher mammographic density in comparison to the lower density. Conclusion Our study results show that the risk of breast cancer is in close relation to the mammographic breast density.

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The relationship of self-acceptance with decision making duration in cancer patient to perform mastectomy

Breast Disease ◽

10.3233/bd-219016 ◽

2021 ◽

pp. 1-5

Author(s):

Ayu Ratuati Setiawan ◽

Feny Tunjungsari ◽

Mochamad Aleq Sander

Keyword(s):

Breast Cancer ◽

Decision Making ◽

Cancer Patients ◽

Breast Cancer Patients ◽

Cross Sectional ◽

Abnormal Growth ◽

Self Acceptance ◽

Observation Method ◽

Relationship Of ◽

The Relationship

BACKGROUND: Cancer is a disease caused by abnormal growth of body cells that turn malignant and continue to grow uncontrollably. One of the treatments for breast cancer is mastectomy. The quickness of decision-making determines the survival rate of prognosis patients. OBJECTIVE: This study aimed to determine the relationship of self-acceptance with decision-making duration in cancer patients to perform a mastectomy. METHODS: An analytic observation method with cross-sectional design. The samples were taken by purposive sampling method with 50 samples of breast cancer patients. Data collected include age, last level of education, marital status, profession, stage of cancer during mastectomy, self-acceptance score, and decision-making duration to perform a mastectomy. RESULTS: The data analyzed with the Kruskal–Wallis test. The test showed the relationship of self-acceptance (p = 0.027) with decision-making duration in breast cancer patients to perform a mastectomy. CONCLUSION: In Conclusion, there is a relationship of self-acceptance with decision-making duration in breast cancer patients to perform a mastectomy.

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The BIRC Family Genes Expression in Patients with Triple Negative Breast Cancer

International Journal of Molecular Sciences ◽

10.3390/ijms22041820 ◽

2021 ◽

Vol 22 (4) ◽

pp. 1820

Author(s):

Anna Makuch-Kocka ◽

Janusz Kocki ◽

Anna Brzozowska ◽

Jacek Bogucki ◽

Przemysław Kołodziej ◽

...

Keyword(s):

Breast Cancer ◽

Gene Expression ◽

Clinical Data ◽

Triple Negative Breast Cancer ◽

Triple Negative ◽

Lymphatic Vessels ◽

The Cancer Genome Atlas ◽

Expression Level ◽

Cancer Tissue ◽

Expression Levels

The BIRC (baculoviral IAP repeat-containing; BIRC) family genes encode for Inhibitor of Apoptosis (IAP) proteins. The dysregulation of the expression levels of the genes in question in cancer tissue as compared to normal tissue suggests that the apoptosis process in cancer cells was disturbed, which may be associated with the development and chemoresistance of triple negative breast cancer (TNBC). In our study, we determined the expression level of eight genes from the BIRC family using the Real-Time PCR method in patients with TNBC and compared the obtained results with clinical data. Additionally, using bioinformatics tools (Ualcan and The Breast Cancer Gene-Expression Miner v4.5 (bc-GenExMiner v4.5)), we compared our data with the data in the Cancer Genome Atlas (TCGA) database. We observed diverse expression pattern among the studied genes in breast cancer tissue. Comparing the expression level of the studied genes with the clinical data, we found that in patients diagnosed with breast cancer under the age of 50, the expression levels of all studied genes were higher compared to patients diagnosed after the age of 50. We observed that in patients with invasion of neoplastic cells into lymphatic vessels and fat tissue, the expression levels of BIRC family genes were lower compared to patients in whom these features were not noted. Statistically significant differences in gene expression were also noted in patients classified into three groups depending on the basis of the Scarff-Bloom and Richardson (SBR) Grading System.

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DNA methylation mediated RSPO2 to promote follicular development in mammals

Cell Death and Disease ◽

10.1038/s41419-021-03941-z ◽

2021 ◽

Vol 12 (7) ◽

Author(s):

Xiaofeng Zhou ◽

Yingting He ◽

Nian Li ◽

Guofeng Bai ◽

Xiangchun Pan ◽

...

Keyword(s):

Dna Methylation ◽

Wnt Signaling ◽

Signaling Pathway ◽

Methylation Level ◽

Molecular Mechanisms ◽

Cpg Island ◽

Wnt Signaling Pathway ◽

Follicular Development ◽

Expression Level

AbstractIn female mammals, the proliferation, apoptosis, and estradiol-17β (E2) secretion of granulosa cells (GCs) have come to decide the fate of follicles. DNA methylation and RSPO2 gene of Wnt signaling pathway have been reported to involve in the survival of GCs and follicular development. However, the molecular mechanisms for how DNA methylation regulates the expression of RSPO2 and participates in the follicular development are not clear. In this study, we found that the mRNA and protein levels of RSPO2 significantly increased during follicular development, but the DNA methylation level of RSPO2 promoter decreased gradually. Inhibition of DNA methylation or DNMT1 knockdown could decrease the methylation level of CpG island (CGI) in RSPO2 promoter and upregulate the expression level of RSPO2 in porcine GCs. The hypomethylation of −758/−749 and −563/−553 regions in RSPO2 promoter facilitated the occupancy of transcription factor E2F1 and promoted the transcriptional activity of RSPO2. Moreover, RSPO2 promoted the proliferation of GCs with increasing the expression level of PCNA, CDK1, and CCND1 and promoted the E2 secretion of GCs with increasing the expression level of CYP19A1 and HSD17B1 and inhibited the apoptosis of GCs with decreasing the expression level of Caspase3, cleaved Caspase3, cleaved Caspase8, cleaved Caspase9, cleaved PARP, and BAX. In addition, RSPO2 knockdown promoted the apoptosis of GCs, blocked the development of follicles, and delayed the onset of puberty with decreasing the expression level of Wnt signaling pathway-related genes (LGR4 and CTNNB1) in vivo. Taken together, the hypomethylation of −758/−749 and −563/−553 regions in RSPO2 promoter facilitated the occupancy of E2F1 and enhanced the transcription of RSPO2, which further promoted the proliferation and E2 secretion of GCs, inhibited the apoptosis of GCs, and ultimately ameliorated the development of follicles through Wnt signaling pathway. This study will provide useful information for further exploration on DNA-methylation-mediated RSPO2 pathway during follicular development.

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