New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer

Castillo-Guardiola, Verónica; Sarabia-Meseguer, M.D.; Marín-Vera, Miguel; Sánchez-Bermúdez, A.I.; Alonso-Romero, José Luis; Noguera-Velasco, José Antonio; Ruíz-Espejo, Francisco

doi:10.1016/j.cancergen.2018.06.002

Cited by 4 publications

(1 citation statement)

References 11 publications

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“…Age is the most significant risk factor of BC, followed by a positive family history of BC. Hereditary susceptibility created by mutations in BRCA1/2 genes is responsible for 5 to 10% of all BCs among women (6). The genetic alterations in BC can be classified into two separate categories.…”

Section: Contextmentioning

confidence: 99%

Prominent Prognostic Factors in Aggressive Breast Cancer: A Review

et al. 2021

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Context: Breast cancer (BC) is the most common cancer in women worldwide. Hereditary susceptibility created by mutations in autosomal dominant genes is responsible for 5 to 10% of all BC cases in women. Recent studies have identified genes associated with increased risk for aggressive BC, providing the basis for better risk management. Evidence Acquisition: The latest information in National Center for Biotechnology Information (NCBI), Google Scholar, ScienceDirect, and Scopus were the main databases for finding articles. A combination of keywords of ‘metastasis’, ‘invasion’, ‘aggressive breast cancer’, ‘prognostic factor’, ‘mutation’, and ‘cancer treatment’ was searched in the databases to identify related articles. Titles and abstracts of the articles were studied to choose the right articles. Results: Mutations in breast cancer type 1 susceptibility protein (BRCA1) and breast cancer type 2 susceptibility protein (BRCA2) genes are two central players related to the high risk of BC. Mutation in tumor protein p53 (TP53) is another important mutation that leads to triple-negative BC. Although the majority of BC types are not associated with high-throughput mutant genes such as BRCA1, BRCA2, and TP53, they are associated with low-throughput genes, including DNA repair protein Rad50 (RAD50), Nijmegen breakage syndrome gene (NBS1), checkpoint kinase 2 (CHEK2), BRCA1-interacting protein 1 (BRIP1), E-cadherin gene (CDH1) and PALB2, UCHL1, aldehydedehydrogenase1A3 (ALDH1A3), androgen receptor (AR), 5-bisphosphate 3-kinase (PIK3CA), phosphatidylinositol-4, and luminal gene expression that are generally mutated in the global population. High tumor mutational burden (TMB) was associated with improved progression-free survival. Conclusions: The lymph node status, early tumor size, ER, PR, human epidermal growth factor receptor-2 (HER2), and Ki-67 are conventional prognostic factors for BC. However, these factors cannot exactly predict the aggressive behavior of BC. Hence, in this review, we discussed new prognostic factors of aggressive BCs that are useful for the treatment of patients with BC.

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Section: Contextmentioning

confidence: 99%

Prominent Prognostic Factors in Aggressive Breast Cancer: A Review

et al. 2021

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Impact ofTP53mutations in breast cancer: Clinicopathological features and prognosisImpact ofTP53mutations in breast CA

Chen

Wang

et al. 2020

Thoracic Cancer

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BackgroundTP53 is a crucial tumor suppressor gene. However, the mutation pattern of TP53 in Chinese patients with breast cancer has not yet been determined.MethodsA total of 411 untreated patients with invasive breast cancer diagnosed at Guangdong Provincial People's Hospital (GDPH) between June 2017 to September 2018 were recruited into the study. Mutational alterations in TP53 were detected and correlations between TP53 mutations and clinicopathological features analyzed. Comparative analysis of the data in the GDPH cohort with those in the METABRIC cohort were carried out.ResultsA significantly higher rate of TP53 mutations was detected in the GDPH cohort (51.3%) compared with the METABRIC cohort (34.4%) (P < 0.01). In the GDPH cohort, 77.8% of the mutations were located in the conserved areas across exons 5–8 of TP53; among these, 112 were identified as missense mutations and mainly clustered in the DNA‐binding region. R273C/H (n = 11) and R248Q/W (n = 10) were two of the most common mutation sites of TP53 detected in the cohort of GDPH patients. Logistic regression multivariate analysis showed that histological grade III, ki‐67 > = 25%, HR‐ and Her2+ in breast cancer had higher mutation probability of TP53 (P < 0.001 in the GDPH cohort). Furthermore, receiver operating characteristic (ROC) model combining molecular typing and Ki‐67 was established to predict the mutation of TP53, and the AUC was 0.846.ConclusionsA significantly higher rate of TP53 mutation was detected in the Chinese cohort compared with the METABRIC. Correlation analysis revealed a significant association of TP53 mutation with HR‐ and HER2+, higher Ki‐67 and histological grade in breast cancer patients.

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Identification of Immune Infiltration and Prognostic Biomarkers in Small Cell Lung Cancer Based on Bioinformatic Methods from 3 Studies

Cao

2023

CCHTS

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Aims: To investigation the correlation between gene expression and immune cell infiltration, the overall survival rate in tumor tissues, which may contribute to the therapy and prognosis of small cell lung cancer (SCLC) patients. Background: SCLC is the most aggressive type of lung neoplasms. There is no proper marker for treatment and prediction of prognosis in SCLC. Objectives: Three gene expression profiles of SCLC patients were obtained from The Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) were identified between normal lung samples and SCLC lung samples. Methods: Functional enrichment analysis of all DEGs was conducted to explore the linkage between DEGs and tumor immune and SCLC tumorigenesis. The common genes among the 3 groups in Venn diagram and hub genes in protein-protein interaction (PPI) networks were considered as potential key genes in SCLC patients. TIMER (tumor immune estimation resource) database calculation and Kaplan-Meier survival curves were conducted for investigating the association between potential key genes and immune infiltrates prognosis of SCLC patients, respectively. Results: A total of 750 (top 250 from each study) differentially expressed genes (DEGs) were identified. CLDN18 and BRIP1 were significantly related to immune infiltration in the tumor microenvironment. SHCBP1 and KIF23 were the most related to the prognosis in SCLC patients. Conclusion: The present study may provide some potential biomarkers for the therapy and prognosis of SCLC.

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New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer

Cited by 4 publications

References 11 publications

Prominent Prognostic Factors in Aggressive Breast Cancer: A Review

Prominent Prognostic Factors in Aggressive Breast Cancer: A Review

Impact ofTP53mutations in breast cancer: Clinicopathological features and prognosisImpact ofTP53mutations in breast CA

Identification of Immune Infiltration and Prognostic Biomarkers in Small Cell Lung Cancer Based on Bioinformatic Methods from 3 Studies

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