Molecular Biology In Young Women With Breast Cancer: From Tumor Gene Expression To Dna Mutations

Gómez-Flores-Ramos, Liliana; Castro-Sánchez, Andrea; Peña-Curiel, Omar; Mohar‐Betancourt, Alejandro

doi:10.24875/ric.17002225

Cited by 17 publications

(24 citation statements)

References 111 publications

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“…Age is confirmed as an independent prognostic variable for locoregional-free interval, distant metastasis-free interval and breast cancer specific survival (3)(4)(5)(6). Among women diagnosed with breast cancer during 1996-2000, 44.2% were aged 65 or more years and only 2% were <35 years (7), although the latter incidence may be higher in specific ethnic groups (8). Compared to elderly, postmenopausal patients, young breast cancer patients more often have a family history of malignancy, deleterious germline mutations in BRCA1/2 and other highly penetrant cancer predisposing genes, such as TP53, and they also present with more aggressive disease: poorly differentiated, HER2-positive or triple negative (TNBC) tumors (9).…”

mentioning

confidence: 99%

Tumor Mutational Patterns and Infiltrating Lymphocyte Density in Young and Elderly Patients With Breast Cancer

Nikolaidi

Kotoula

Koliou

et al. 2020

Cancer Genomics Proteomics

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Background/Aim: Age may pertain to different tumor genotype characteristics which may interfere with treatment efficacy and prognosis. We investigated the distribution and prognostic effect of mutations and tumor infiltrating lymphocyte (stromal TIL density) in young (≤35 years) and elderly (>65 years) early breast cancer patients. Materials and Methods: Paraffin tumor genotypes of all clinical subtypes from 345 patients were examined. Results: A total of 638 mutations were detected in 221 patients (64.1%). Compared to young, elderly patients presented with lower TIL density (p<0.

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mentioning

confidence: 99%

Tumor Mutational Patterns and Infiltrating Lymphocyte Density in Young and Elderly Patients With Breast Cancer

Nikolaidi

Kotoula

Koliou

et al. 2020

Cancer Genomics Proteomics

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“…However, the underlying mechanisms need to be further investigated. Our results also suggested that polymorphisms in CLDN1 might help us to identify subtypes of TNBC, as TNBC patients with different age and grade were proved to have unique molecular features [32,43].…”

Section: Discussionmentioning

confidence: 89%

Polymorphisms inCLDN1are associated with age and differentiation of triple-negative breast cancer patients

Ruan

et al. 2019

Bioscience Reports

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Purpose: Triple-negative breast cancer (TNBC) is a highly heterogeneous disease. It is very important to explore novel biomarkers to better clarify the characteristics of TNBC. It has been reported that polymorphisms in claudin 1 (CLDN1) are associated with risk of several cancers. But till now, there is no report about these polymorphisms and TNBC. Patients and methods: Between January 2004 and December 2013, 267 patients with stage I–III primary TNBC were included in our study. We investigated the association between polymorphisms in CLDN1 gene and clinicopathological characteristics or survival of these patients. We used Haploview 4.2 software to identify Tag single nucleotide polymorphisms (SNPs). MassARRAY MALDI-TOF System was used for genotyping. Results: We found that rs10513846 GA genotype was associated with older age [P=0.013, hazard ratios (HR) = 2.231, 95% confidence interval (CI): 1.186–4.195]. Rs10513846 AA genotype carriers were more likely to develop grade 3 tumors (P=0.005, HR = 2.889, 95% CI: 1.389–6.007). And rs9283658 genotypes were also related to grade, more patients with grade 3 tumors were rs9283658 CC genotype carriers (P=0.023, HR = 0.446, 95% CI: 0.222–0.894). There was no association between polymorphisms in CLDN1 and survival of TNBC patients. After multivariate analysis, tumor size (P=0.021, HR = 3.146, 95% CI: 1.185–8.354) and lymph node status (P<0.001, HR = 10.930, 95% CI: 3.276–36.470) were demonstrated to be independent prognostic factors. Conclusion: We first demonstrated that polymorphisms in CLDN1 gene were associated with age and differentiation of TNBC patients.

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“…DNA repair genes display high mutation incidence in cancer, when DNA repair pathways are compromised, mutation rate arises because alternative error-prone repair pathways are used by the cell [11,132]. The study of the repair pathway mechanisms has identified new targets for therapy that might be useful in some types of cancer.…”

Section: Therapy Recommendation For Dna Repair Related Genesmentioning

confidence: 99%

“…About 50–60% of cases of HBC show variants in BRCA1/2 genes. The remaining percentage involves moderate and low penetrance variants in non-BRCA genes [11]. Next generation sequencing (NGS) and other technologies are still identifying variants in genes associated with breast cancer.…”

Section: Introductionmentioning

confidence: 99%

Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy

Urbina-Jara

Rojas-Martı́nez

Martinez-Ledesma

et al. 2019

Genes

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Germline mutations in BRCA1 and BRCA2 (BRCA1/2) genes are present in about 50% of cases of hereditary breast cancer. Proteins encoded by these genes are key players in DNA repair by homologous recombination (HR). Advances in next generation sequencing and gene panels for breast cancer testing have generated a large amount of data on gene variants implicated in hereditary breast cancer, particularly in genes such as PALB2, ATM, CHEK2, RAD51, MSH2, and BARD1. These genes are involved in DNA repair. Most of these variants have been reported for Caucasian, Jewish, and Asian population, with few reports for other communities, like those in Latin American (LA) countries. We reviewed 81 studies from 11 LA countries published between 2000 and 2019 but most of these studies focused on BRCA1/2 genes. In addition to these genes, breast cancer-related variants have been reported for PALB2, ATM, CHEK2, BARD1, MLH1, BRIP1, MSH2, NBN, MSH6, and PMS2 genes. Some of these variants are unique to LA populations. This analysis may contribute to enhance breast cancer variant characterization, and thus to find therapies and implement precision medicine for LA communities.

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Molecular Biology In Young Women With Breast Cancer: From Tumor Gene Expression To Dna Mutations

Cited by 17 publications

References 111 publications

Tumor Mutational Patterns and Infiltrating Lymphocyte Density in Young and Elderly Patients With Breast Cancer

Tumor Mutational Patterns and Infiltrating Lymphocyte Density in Young and Elderly Patients With Breast Cancer

Polymorphisms inCLDN1are associated with age and differentiation of triple-negative breast cancer patients

Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy

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