Differences in potential key genes and pathways between primary and radiation-associated angiosarcoma of the breast

Wei, Yuanfeng; Yang, Xi; Gao, Limin; Xu, Yong; Yi, Cheng

doi:10.1016/j.tranon.2022.101385

Cited by 10 publications

(2 citation statements)

References 69 publications

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“…This TF participates in the interaction of the TATA (promoter)-binding protein and DNA (the promoter region of the gene "TATA" box), which provides the assembly and stability of the "RNA polymerase-promoter" complex necessary for the start of transcription (the pre-initiation stage of transcription) [78]. The GTF2A1L gene is cancer-significant, and there are materials on the relationship of its expression with such oncological diseases as breast angiosarcoma [79], endometrial carcinoma [80], bladder cancer [81], and medulloblastoma in children [82].…”

Section: Discussionmentioning

confidence: 99%

Obesity-Dependent Association of the rs10454142 PPP1R21 with Breast Cancer

Ponomarenko,

Pasenov,

Churnosova

et al. 2024

Biomedicines

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The purpose of this work was to find a link between the breast cancer (BC)-risk effects of sex hormone-binding globulin (SHBG)-associated polymorphisms and obesity. The study was conducted on a sample of 1498 women (358 BC; 1140 controls) who, depending on the presence/absence of obesity, were divided into two groups: obese (119 BC; 253 controls) and non-obese (239 BC; 887 controls). Genotyping of nine SHBG-associated single nucleotide polymorphisms (SNP)—rs17496332 PRMT6, rs780093 GCKR, rs10454142 PPP1R21, rs3779195 BAIAP2L1, rs440837 ZBTB10, rs7910927 JMJD1C, rs4149056 SLCO1B1, rs8023580 NR2F2, and rs12150660 SHBG—was executed, and the BC-risk impact of these loci was analyzed by logistic regression separately in each group of obese/non-obese women. We found that the BC-risk effect correlated by GWAS with the SHBG-level polymorphism rs10454142 PPP1R21 depends on the presence/absence of obesity. The SHBG-lowering allele C rs10454142 PPP1R21 has a risk value for BC in obese women (allelic model: CvsT, OR = 1.52, 95%CI = 1.10–2.11, and pperm = 0.013; additive model: CCvsTCvsTT, OR = 1.71, 95%CI = 1.15–2.62, and pperm = 0.011; dominant model: CC + TCvsTT, OR = 1.95, 95%CI = 1.13–3.37, and pperm = 0.017) and is not associated with the disease in women without obesity. SNP rs10454142 PPP1R21 and 10 proxy SNPs have adipose-specific regulatory effects (epigenetic modifications of promoters/enhancers, DNA interaction with 51 transcription factors, eQTL/sQTL effects on five genes (PPP1R21, RP11-460M2.1, GTF2A1L, STON1-GTF2A1L, and STON1), etc.), can be “likely cancer driver” SNPs, and are involved in cancer-significant pathways. In conclusion, our study detected an obesity-dependent association of the rs10454142 PPP1R21 with BC in women.

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Section: Discussionmentioning

confidence: 99%

Obesity-Dependent Association of the rs10454142 PPP1R21 with Breast Cancer

Ponomarenko,

Pasenov,

Churnosova

et al. 2024

Biomedicines

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“…Wei et al (42) explored the mechanisms of primary and secondary breast angiosarcoma for the discovery of new biomarkers and research into potential therapeutic targets. The study identified 18 differentially expressed genes (DEGs) enriched in the transforming growth factor-β (TGF-β), Wnt, Hippo, and PI3K-Akt signaling pathways.…”

Section: Discussionmentioning

confidence: 99%

Primary breast angiosarcoma: A case report

Qian

Chen

et al. 2023

Front. Surg.

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BackgroundPrimary breast angiosarcoma (PBA) is a rare sarcoma, accounting for only 0.04% of all breast malignancies, with a difficult diagnosis and a poor prognosis. Mastectomy is the standard treatment, and the role of adjuvant treatment (chemotherapy and/or radiotherapy following surgery) remains uncertain with very few studies.Case PresentationWe report the case of a 17-year-old female patient who presented with a right breast lump that had rapidly increased in size and was hemorrhaging. She was diagnosed with breast angiosarcoma by needle biopsy and pathological evaluation. However, the mass showed a quick tendency to bleed during biopsies. After that, we performed angiography and tumor vascular embolization. The patient underwent a mastectomy followed by adjuvant chemotherapy.ConclusionTumor vascular embolization reduced the surgical risk of PBA with hemorrhage complications. Postoperative therapeutic roles still need further exploration and verification.

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Genomic landscape and preclinical models of angiosarcoma

Benton,

Liu,

Gartenhaus

et al. 2024

Molecular Oncology

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Angiosarcoma is a cancer that develops in blood or lymphatic vessels that presents a significant clinical challenge due to its rarity and aggressive features. Clinical outcomes have not improved in decades, highlighting a need for innovative therapeutic strategies to treat the disease. Genetically, angiosarcomas exhibit high heterogeneity and complexity with many recurrent mutations. However, recent studies have identified some common features within anatomic and molecular subgroups. To identify potential therapeutic vulnerabilities, it is essential to understand and integrate the mutational landscape of angiosarcoma with the models that exist to study the disease. In this review, we will summarize the insights gained from reported genomic alterations in molecular and anatomic subtypes of angiosarcoma, discuss several potential actionable targets, and highlight the preclinical disease models available in the field.

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Differences in potential key genes and pathways between primary and radiation-associated angiosarcoma of the breast

Cited by 10 publications

References 69 publications

Obesity-Dependent Association of the rs10454142 PPP1R21 with Breast Cancer

Obesity-Dependent Association of the rs10454142 PPP1R21 with Breast Cancer

Primary breast angiosarcoma: A case report

Genomic landscape and preclinical models of angiosarcoma

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