Correlation of SASH1 expression and ultrasonographic features in breast cancer

Gong, Xuchu; Wu, Jinna; Wu, Jinhua; Li, Jun; Gu, Haoshuang; Shen, Hao

doi:10.2147/ott.s119244

Cited by 8 publications

(6 citation statements)

References 13 publications

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“…SASH1, a signaling adaptor protein of 1,247 amino acids, is located on chromosome 6q24.3 and contains an evolutionarily conserved SLY domain (401-555), an SH3 domain (557-614) and two SAM domains (633-697; 1177-1241, annotation from the UniProt database) (5). The SASH1 gene, which functions as a potential tumor suppressor, has been reported to be associated with the tumorigenesis of lung cancer, breast cancer, colon cancer, cervical cancer, melanoma and hepatocellular carcinoma cells and is inversely associated with certain critical ultrasonographic features of breast cancer (5,9,(21)(22)(23). In the present study, the human SASH1 gene or mouse Sash1 gene was expressed at the transcriptional level (Fig.…”

Section: Discussionsupporting

confidence: 49%

Mutated SASH1 promotes Mitf expression in a heterozygous mutated SASH1 knock‑in mouse model

Wang

et al. 2020

Int J Mol Med

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The SAM and SH3 domain-containing 1 (SASH1) genes have been identified as the causal genes of dyschromatosis universalis hereditaria (DUH); these genes cause the pathological phenotypes of DUH, and SASH1 variants have been shown to regulate the abnormal pigmentation phenotype in human skin in various genodermatoses. However, investigations into the mutated SASH1 gene have been limited to in vitro studies. In the present study, to recapitulate the molecular pathological phenotypes of individuals with DUH induced by SASH1 mutations, a heterozygous BALB/c mouse model, in which the human SASH1 c.1654 T>G (p. Tyr 551Asp, Y551D) mutation was knocked in was first generated. The in vivo functional experiments on Y551D SASH1 indicated that the increased expression of microphthalmia-associated transcription factor (Mitf) was uniformly induced in the tails of heterozygous BALB/c mice, and an increased quantity of Mitf-positive epithelial cells was also detected. An increased expression of Mitf-and Mitf-positive cells was also demonstrated in the epithelial tissues of Y551D-SASH1 affected individuals. In the present study, Mitf expression was also found to be increased by Y551D SASH1 in vitro. Taken together, these findings indicate that the upregulation of Mitf is the bona fide effector of the Y551D SASH1-mediated melanogenesis signaling pathway in vivo. SASH1 may function as a scaffold molecule for the assembly of a SASH1-Mitf molecular complex to regulate Mitf expression in the cell nucleus and thus to promote the hyperpigmented phenotype in the pathogenesis of DUH and other genodermatoses related to pigment abnormalities.

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Section: Discussionsupporting

confidence: 49%

Mutated SASH1 promotes Mitf expression in a heterozygous mutated SASH1 knock‑in mouse model

Wang

et al. 2020

Int J Mol Med

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“…The role of SASH3 in tumorigenesis and development has not been reported yet, which warrants future investigation. SASH1, containing highly similar protein structure with SASH3, functions as a tumor suppressor to inhibit the development of many cancers, such as colon cancer, gastric cancer, BRCA, and cervical cancer (44)(45)(46)(47). Therefore, we speculate that SASH3 may serve as a tumor suppressor to inhibit the occurrence and development of invasive BRCA.…”

Section: Discussionmentioning

confidence: 99%

Comprehensive Analysis of Prognostic Microenvironment-Related Genes in Invasive Breast Cancer

et al. 2022

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Recent studies reveal that tumor microenvironment contributes to breast cancer (BRCA) development, progression, and therapeutic response. However, the contribution of the tumor microenvironment-related genes in routine diagnostic testing or therapeutic decision making for BRCA remains elusive. Immune/stromal/ESTIMATE scores calculated by the ESTIMATE algorithm quantify immune and stromal components in a tumor, and thus can reflect tumor microenvironment. To investigate the association of the tumor microenvironment-related genes with invasive BRCA prognosis, here we analyzed the immune/stromal/ESTIMATE scores in combination with The Cancer Genome Atlas (TCGA) database in invasive BRCA. We found that immune/stromal/ESTIMATE scores were significantly correlated with the invasive BRCA clinicopathological factors. Based on the immune/stromal/ESTIMATE scores, we extracted a series of differential expression genes (DEGs) related to the tumor microenvironment. Survival analysis was further performed to identify a list of high-frequency DEGs (HF-DEGs), which exhibited prognostic value in invasive BRCA. Importantly, consistent with the results of bioinformatics analysis, immunohistochemistry results showed that high SASH3 expression was associated with a good prognosis in invasive BRCA patients. Our findings suggest that the tumor microenvironment-related HF-DEGs identified in this study have prognostic values and may serve as potential biomarkers and therapeutic targets for invasive BRCA.

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“…Patients with higher tumor sphericity and smaller volumes are more likely to achieve pCR [8][9][10]. A greater size and more irregular morphology of the tumor are linked to increased risks of metastasis and recurrence [11,12]. Consequently, there is a close correlation between tumor morphological features and treatment response and prognosis [13][14][15].…”

Section: Introductionmentioning

confidence: 99%

Quantifying tumor morphological complexity based on pretreatment MRI fractal analysis for predicting pathologic complete response and survival in breast cancer: a retrospective, multicenter study

Huang,

Cao,

Chen

et al. 2024

Preprint

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Background: The tumor morphological complexity is closely associated with treatment response and prognosis in patients with breast cancer. However, conveniently quantifiable tumor morphological complexity methods are currently lacking. Methods: Women with breast cancer who underwent NAC and pretreatment MRI were retrospectively enrolled at four centers from May 2010 to April 2023. MRI-based fractal analysis was used to calculate fractal dimensions (FDs), quantifying tumor morphological complexity. Features associated with pCR were identified using multivariable logistic regression analysis, upon which a nomogram model was developed, and assessed by the area under the receiver operating characteristic curve (AUC). Cox proportional hazards analysis was used to identify independent prognostic factors for disease-free survival (DFS) and overall survival (OS) and develop nomogram models. Results: A total of 1109 patients (median age, 49 years [IQR, 43-54 years]) were enrolled; 435, 351, and 323 patients were recruited in the training, external validation cohorts 1 and 2, respectively. HR status (odds ratio [OR], 0.234 [0.135, 0.406]; P< 0.001), HER2 status (OR, 3.320 [1.923, 5.729]; P < 0.001), and Global FD (OR, 0.352 [0.261, 0.480]; P < 0.001) were independent predictors of pCR. The nomogram model for predicting pCR achieved AUCs of 0.80 (95% CI: 0.75, 0.86) and 0.74 (95% CI: 0.68, 0.79) in the external validation cohorts. The nomogram model, which integrated global FD and clinicopathological variables can stratify prognosis into low-risk and high-risk groups (log-rank test, DFS: P = 0.04; OS: P < 0.001). Conclusions: Global FD can quantify tumor morphological complexity and the model that combines global FD and clinicopathological variables showed good performance in predicting pCR to NAC and survival in patients with breast cancer.

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Correlation of SASH1 expression and ultrasonographic features in breast cancer

Cited by 8 publications

References 13 publications

Mutated SASH1 promotes Mitf expression in a heterozygous mutated SASH1 knock‑in mouse model

Mutated SASH1 promotes Mitf expression in a heterozygous mutated SASH1 knock‑in mouse model

Comprehensive Analysis of Prognostic Microenvironment-Related Genes in Invasive Breast Cancer

Quantifying tumor morphological complexity based on pretreatment MRI fractal analysis for predicting pathologic complete response and survival in breast cancer: a retrospective, multicenter study

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