Ultrasonic Features and Molecular Subtype Predict Somatic Mutations in TP53 and PIK3CA Genes in Breast Cancer

Huang, Yao Qi; Yu, Qiang; Jian, Le; Zhou, Jin; Qian, Lijun; Chen, Sheng; Zhou, Shichong; Chang, Cai

doi:10.1016/j.acra.2022.02.021

Cited by 5 publications

(5 citation statements)

References 38 publications

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“…Cluster 1 was dominated by the TP53 mutation and cluster 2 was dominated by the PIK3CA mutation. According to the data provided by previous studies, most TP53 mutations occur in Luminal B/HER2+ and HER2+/ER– subtypes, and most PIK3CA mutations occur in Luminal A and Luminal B/HER2– subtypes 58 . In the present study, ER–, HER+ and Luminal B subtypes in cluster 1 were significantly higher than those in cluster 2, whereas Luminal A and HER‐ were dominant in cluster 2 subtypes.…”

Section: Discussionsupporting

confidence: 75%

“…According to the data provided by previous studies, most TP53 mutations occur in Luminal B/HER2+ and HER2+/ER-subtypes, and most PIK3CA mutations occur in Luminal A and Luminal B/HER2-subtypes. 58 In the present study, ER-, HER+ and Luminal B subtypes in cluster 1 were significantly higher than those in cluster 2, whereas Luminal A and HER-were dominant in cluster 2 subtypes. HRD may be one of the biological prerequisites for inducing targeted adaptive immune I G U R E 7 Pan-cancer prognostic analysis of the model.…”

Section: Discussionsupporting

confidence: 41%

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Homologous recombination deficiency reflects the heterogeneity and monitoring treatment response for patients with breast cancer

Long,

Wang,

2023

The Journal of Gene Medicine

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BackgroundIn breast cancer (BC), homologous recombination defect (HRD) is a common carcinogenic mechanism. It is meaningful to classify BC according to HRD biomarkers and to develop a platform for identifying BC molecular features, pathological features and therapeutic responses.MethodsIn total, 109 HRD genes were collected and screened by univariate Cox regression analysis to determine the prognostic genes, which were used to construct a consensus matrix to identify BC subtype. Differentially expressed genes (DEGs) were filtered by the Limma package and screened by random forest analysis to build a model to analyze the immunotherapy response and sensitivity and prognosis of patients suffering from BC to different drugs.ResultsThirteen out of 109 HRD genes were prognostic genes of BC, and BC was classified into two subgroups based on their expression. Cluster 1 had a significantly backward survival outcome and a significantly higher adaptive immunity score relative to cluster 2. Six genes were identified by random forest analysis as factors for developing the model. The model provided a prediction called risk score, which showed a significant stratification effect on BC prognosis, immunotherapy response and IC50 values of 62 drugs.ConclusionsIn the present study, two HRD subtypes of BC were successfully identified, for which mutation and immunological features were determined. A model based on differential genes of HRD subtypes was established, which was a potential predictor of prognosis, immunotherapy response and drug sensitivity of BC.

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Section: Discussionsupporting

confidence: 75%

Section: Discussionsupporting

confidence: 41%

Homologous recombination deficiency reflects the heterogeneity and monitoring treatment response for patients with breast cancer

Long,

Wang,

2023

The Journal of Gene Medicine

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“…Very recently, Luminal type breast cancer patients have been found to have prognostically important novel PIK3CA mutations and low PTEN expression (in one third and one fourth patients, respectively) 22 . In that study, PIK3CA mutations were associated with resistance to neoadjuvant chemotherapy but do not affect the response to neoadjuvant endocrine therapy [22][23] .…”

Section: Discussionmentioning

confidence: 81%

Very high frequencies of Familial Breast Cancer, low BRCA1/2 mutations and high Luminal molecular subtypes in Eastern Saudi Arabia necessitate the hunt for novel breast cancer hub genes

Al-Qurashi,

Balghonaim,

Albunyan

et al. 2023

Preprint

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This study was carried out to find out incidence of familial breast cancer, frequencies of different histological and molecular subtypes of breast cancer, and proportion of breast cancer patient with BRCA1/2 mutations, to plan for its implementation in early cancer screening and personalized treatment in Eastern Saudi Arabia. The breast cancer incidence increased from 2009-2016 and peaked in 2012. Ductal carcinoma (80%) was the most common histological type and Luminal A/B the most common (74%) molecular types among all patients. The familial and non-familial breast cancer groups were compared based on their demographic and clinical characteristics. The mean age at diagnosis was 51.6±13.5 and 53.5±12.7 for familial and non-familial breast cancer patients respectively. A total of 10 (24.3%) of familial breast cancer patients were tested for BRCA gene mutations, and 5 (12.2%) were abnormal, making it 4.3% of total patients. In the familial group, significant correlation (p 0.04) was found between patients with age less than 50 and with more than one family member affected with breast or ovarian cancer. Significance was found between unilateral familial breast cancer and bone metastasis (p 0.004). In both familial and non-familial groups, significant correlation was found between unilateral breast cancer and liver metastasis (0.005 and 0.017 respectively). There was a significant association between unilateral non-familial breast cancer and luminal A molecular type (p 0.012). Analysis of TNM staging showed that (61%) of familial breast cancer patients were diagnosed at stage II. In conclusion, familial breast cancer incidence is increasingly high in Al-Ahsa region as compared to western populations which could be due to consanguineous marriage and social behaviors. It warrants further studies to explore familial breast cancer hub genes in Eastern Saudi Arabia and its implementation in early diagnosis and patient-tailored treatment of breast cancer.

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“… 41 , 42 Previous radiogenomics studies have demonstrated that specific imaging phenotypes are associated with specific genomic mutations. 10 , 19 For example, imaging features are associated with TP53/PIK3CA mutation based on MRI 43 and US 21 in breast cancer but with limited imaging features. Our study found the radiogenomic features were distinct between TNBC and non-TNBC, with few shared radiomic–gene and radiomic–pathway pairs.…”

Section: Discussionmentioning

confidence: 99%

“…with 8 years of experience, as previously described. 21 The regions of interest (ROI) of US images were delineated using a trained U-NET network 22 (Figure 1). Segmentation revision was performed by an experienced radiologist (L Qian, with 5 years of diagnosis experience in breast medical images) where necessary (where contour of lesion was not precisely drawn).…”

Section: Us Radiomic Features Extractionmentioning

confidence: 99%

Unraveling the Pivotal Network of Ultrasound and Somatic Mutations in Triple-Negative and Non-Triple-Negative Breast Cancer

Huang¹,

Ye²,

Xiao³

et al. 2023

BCTT

Self Cite

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Purpose The emergence of genomic targeted therapy has improved the prospects of treatment for breast cancer (BC). However, genetic testing relies on invasive and sophisticated procedures. Patients and Methods Here, we performed ultrasound (US) and target sequencing to unravel the possible association between US radiomics features and somatic mutations in TNBC (n=83) and non-TNBC (n=83) patients. Least absolute shrinkage and selection operator (Lasso) were utilized to perform radiomic feature selection. The Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis was utilized to identify the signaling pathways associated with radiomic features. Results Thirteen differently represented radiomic features were identified in TNBC and non-TNBC, including tumor shape, textual, and intensity features. The US radiomic–gene pairs were differently exhibited between TNBC and non-TNBC. Further investigation with KEGG verified radiomic–pathway (ie, JAK-STAT, MAPK, Ras, Wnt, microRNAs in cancer, PI3K-Akt) associations in TNBC and non-TNBC. Conclusion The pivotal network provided the connections of US radiogenomic signature and target sequencing for non-invasive genetic assessment of precise BC treatment.

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Ultrasonic Features and Molecular Subtype Predict Somatic Mutations in TP53 and PIK3CA Genes in Breast Cancer

Cited by 5 publications

References 38 publications

Homologous recombination deficiency reflects the heterogeneity and monitoring treatment response for patients with breast cancer

Homologous recombination deficiency reflects the heterogeneity and monitoring treatment response for patients with breast cancer

Very high frequencies of Familial Breast Cancer, low BRCA1/2 mutations and high Luminal molecular subtypes in Eastern Saudi Arabia necessitate the hunt for novel breast cancer hub genes

Unraveling the Pivotal Network of Ultrasound and Somatic Mutations in Triple-Negative and Non-Triple-Negative Breast Cancer

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