Purpose: To perform a systematic review to explore the clinical relevance of hTERT polymorphisms for breast cancer (BC).
Methods: Twenty-nine polymorphic regions were evaluated after comprehensive searching of 1236 articles, and selection of 9 publications (total of 12986 cases and 16758 controls).
Results: About the influence of hTERT variants in BC risk, 3 studies showed that the variant rs2736098 was associated with increasing risk. The variants rs10069690 and rs2853676 were also described as risk factors for BC. Only one variant rs2736100 presented as risk factor for BC. MNS16A genotype influenced the risk of BC in an Iranian, but not in the Greek and American populations. The associations of 5 hTERT variants with expression of hormone receptors were also evaluated in some studies. One study showed that the variant rs10069690 was associated to the estrogen receptor (ER)-negative and triple negative subtype, but other authors did not find the same results. In addition, the association of rs273618 with ER-/progesterone receptor (PR)+ cases, and rs10069690, rs2735940, rs4246742 and rs2736100 with both negative receptors were described. After data reanalyses, we found that the variant rs2735940 and rs2736100 were associated with ER-/PR- cases among patients with BC. Also, the variant rs2736100 was associated with ER+/PR+ cases and the variant rs2736118 was associated to ER+/PR+ and ER-/PR+ cases.
Conclusions: The associations between hTERT variants and BC risk and outcomes could be useful since a polymorphism can be identified before the diagnosis, but the heterogeneity of data and analyses found in different studies lead to many controversies.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Comprehensive genomic profiling for advanced hepatocellular carcinoma in clinical practice.
Hepatol Int
November 2024
Department of Gastroenterology, Kanazawa University Hospital, 13-1 Takaramachi, Kanazawa, Ishikawa, 920-8641, Japan.
Aim: Although several therapeutic agents show efficacy in advanced hepatocellular carcinoma (HCC), biomarkers such as comprehensive genomic profiling (CGP) for the selection of second-line treatments after immunotherapy have not been established. We evaluated the value of CGP for the treatment decision in patients with HCC.
Methods: We retrospectively studied 52 patients with advanced HCC who received CGP tests at three tertiary hospitals between February 2022 and November 2023.
Influence of Genetic Polymorphisms on the Age at Cancer Diagnosis in a Homogenous Lynch Syndrome Cohort of Individuals Carrying the :c.1528C>T South African Founder Variant.
Biomedicines
September 2024
UCT/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, and Affiliated Hospitals, Cape Town 7704, South Africa.
Article Synopsis
- - The study explores variations in the age at cancer diagnosis among Lynch syndrome patients, focusing on how genetic polymorphisms influence this variability, particularly in South Africans with specific germline pathogenic variants.
- - An analysis was conducted on 359 Lynch syndrome variant heterozygotes using advanced genetic testing methods to identify associations between genetic polymorphisms and the age at which cancer was diagnosed.
- - Results showed that certain genotypes increased the likelihood of younger cancer diagnosis, while others provided protective effects, suggesting that a mix of risk and protective genes plays a significant role in cancer onset age among Lynch syndrome patients.
Effect of obesity and NAFLD on leukocyte telomere length and hTERT gene MNS16A VNTR variant.
Sci Rep
October 2024
Istanbul Faculty of Medicine, Department of Medical Biology, Istanbul University, Istanbul, Turkey.
It is known that telomere length (TL) (evaluated with T/S ratio) is shortened in the presence of obesity. In this study, we aimed to investigate how obesity in adolescents and non-alcoholic liver disease (NAFLD) within the obese group affect TL and the clinical significance of the human telomerase reverse transcriptase (hTERT) gene MNS16A VNTR variant in terms of NAFLD. Adolescents with exogenous obesity and healthy controls (aged 10-19 years) who applied to our adolescent outpatient clinic between May-October 2023 were included in this study.
View Article and Find Full Text PDFEffect of aging and exercise on hTERT expression in thymus tissue of hTERT transgenic bacterial artificial chromosome mice.
Geroscience
September 2024
School of Kinesiology, University of Michigan, Ann Arbor, MI, 48109, USA.
Article Synopsis
- Telomere shortening in immune cells is linked to aging, affecting immune function (immunosenescence), and while exercise may help boost telomerase activity in some cells, its effects on the thymus remain unclear.
- A study using transgenic mice examined how aging and different exercise models influenced the alternative splicing of human telomerase reverse transcriptase (hTERT) in thymus tissue.
- Results showed that while aging decreases hTERT expression, exercise helped prevent an age-related shift in hTERT splicing ratios, indicating that aging negatively impacts telomerase expression but that exercise can mitigate some of these changes.
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.
Am J Hum Genet
September 2024
Shiley Eye Institute, University of California, San Diego, San Diego, CA, USA. Electronic address:
Genome analysis of individuals affected by retinitis pigmentosa (RP) identified two rare nucleotide substitutions at the same genomic location on chromosome 11 (g.61392563 [GRCh38]), 69 base pairs upstream of the start codon of the ciliopathy gene TMEM216 (c.-69G>A, c.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!