Article
Oncology
Zoia Rossokha, Liliia Fishchuk, Olga Lobanova, Viktoriia Vershyhora, Nataliia Medvedieva, Valeriy Cheshuk, Roman Vereshchako, Svitlana Podolska, Natalia Gorovenko
Summary: The clinical significance of RUNX3 gene hypermethylation in the pathogenetic mechanisms of breast cancer in women, with its cohypermethylation with the BRCA1 gene, was evaluated. Hypermethylation of the RUNX3 gene promoter region was significantly higher in breast cancer patients compared to the control group, as well as the cohypermethylation of RUNX3 and BRCA1 genes. These findings highlight the importance of further investigations into suppressor gene cohypermethylation in breast cancer patients.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2023)
Article
Multidisciplinary Sciences
Yu-Hsin Chu, Yi-Chen Huang, Pei-Yun Chiu, Wen-Hung Kuo, Yan-Ru Pan, Yuan-Ting Kuo, Rong-Hsuan Wang, Yu-Chin Kao, Yi-Hsiang Wang, Yi-Fan Lin, Kai-Ti Lin
Summary: Breast cancer is a leading cause of cancer-related death in women, and triple-negative breast cancer (TNBC) is a particularly aggressive subtype. Using bioinformatic approaches, researchers found that the microRNA-708 promoter is highly methylated in breast carcinomas, which is associated with a poor prognosis. By combining the hypomethylating agent decitabine with a synthetic glucocorticoid, they were able to increase the expression of microRNA-708 and suppress breast cancer cell proliferation, migration, and invasion in TNBC patients.
Article
Oncology
Olga Lobanova, Nataliia Medvedieva, Liliia Fishchuk, Olha Dubitska, Valeriy Cheshuk, Roman Vereshchako, Liubov Zakhartseva, Zoia Rossokha, Natalia Gorovenko
Summary: This study compared the contribution of pathogenic variants of the BRCA1/2 genes and hypermethylation of the BRCA1 gene promoter to the risk of breast cancer and clinical features. The results showed that hypermethylation of the BRCA1 gene promoter is a risk factor for breast cancer and possibly an early biological marker of clinical onset.
BREAST CANCER RESEARCH AND TREATMENT
(2022)
Article
Oncology
Anna Plym, Yiwen Zhang, Konrad H. Stopsack, Yon Ho Jee, Fredrik Wiklund, Adam S. Kibel, Peter Kraft, Edward Giovannucci, Kathryn L. Penney, Lorelei A. Mucci
Summary: Family history and inherited polygenic risk assessment can help identify men at higher risk of developing and dying from prostate cancer.
CLINICAL CANCER RESEARCH
(2022)
Article
Multidisciplinary Sciences
Bing Wei, Fengxin Wu, Wenqun Xing, Haibo Sun, Chi Yan, Chengzhi Zhao, Dongqing Wang, Xiaobing Chen, Yanli Chen, Mingming Li, Jie Ma
Summary: The novel panel of three established lung cancer methylation biomarkers showed high sensitivity and specificity in distinguishing between malignant and benign lung disease. It was effective in detecting lung cancer noninvasively and was not biased by age, gender, smoking, or the presence of other (nonlung) cancers.
SCIENTIFIC REPORTS
(2021)
Article
Multidisciplinary Sciences
Buze Chen, Xiaojuan Ding, Ailing Wan, Xin Qi, Xiaoman Lin, Haihong Wang, Wenyu Mu, Gang Wang, Junnian Zheng
Summary: TLX2 plays an important role in multiple tumors and its abnormal expression is associated with a poor overall survival rate in several cancer types. The most common type of alteration in TLX2 is amplification, and it co-occurs with alterations in other genes. TLX2 has high methylation levels in various tumors. Its expression is related to immune infiltration, immune checkpoint genes, and chemoresistance.
SCIENTIFIC REPORTS
(2023)
Article
Multidisciplinary Sciences
Ricardo Ribeiro Gama, Lidia Maria Rebolho Batista Arantes, Bruna Pereira Sorroche, Pedro De Marchi, Matias Eliseo Melendez, Raiany Santos Carvalho, Marcos Alves de Lima, Andre Luiz Vettore, Andre Lopes Carvalho
Summary: This study evaluated the biological action of valproic acid in HNSCC patients and found that the use of valproic acid in oral rinse led to a significant decrease in DCC gene methylation.
SCIENTIFIC REPORTS
(2021)
Article
Immunology
Fatima Khan, Preeti Agarwal, Sameer Gupta, Malti Kumari Maurya, Pooja Singh, Apoorva Agarwal, Kulranjan Singh, Abhinav Arun Sonkar, Madhu Mati Goel
Summary: This study aimed to assess the methylation status of BRCA1 in breast cancer patients and investigate its association with hormone profile and prognostic parameters. The results showed a significant correlation between BRCA1 promoter methylation and loss of BRCA1 protein, hormone profile, tumor grade, lymph vascular invasion, as well as nodal metastasis. These findings suggest that BRCA1 loss in sporadic breast cancer could potentially be a biomarker for targeted therapy.
INDIAN JOURNAL OF MEDICAL RESEARCH
(2023)
Article
Multidisciplinary Sciences
R. A. Zorzo, V. M. M. Suen, J. E. Santos, W. A. Silva-Jr, V. K. Suazo, A. L. S. C. Honorato, R. D. Santos, C. E. Jannes, A. Pereira, J. E. Krieger, R. D. R. Liberatore
Summary: This study found that methylation in one CpG island of the LDLR gene may be associated with the phenotype of familial hypercholesterolemia (FH), while there was no relationship between methylation in the APOB and PCSK9 genes and FH phenotype.
SCIENTIFIC REPORTS
(2023)
Article
Oncology
Jennifer A. Karlow, Siddhartha Devarakonda, Xiaoyun Xing, Hyo Sik Jang, Ramaswamy Govindan, Mark Watson, Ting Wang
Summary: This study identified recurrent methylation patterns in brain metastases of non-small cell lung cancer (NSCLC), which may serve as prognostic biomarkers and contribute to disease progression. The altered DNA methylation was associated with the loss of EZH2 occupancy at developmental genes and changes in epigenetic regulation.
Article
Oncology
Gregory S. Calip, John Kidd, Ryan Bernhisel, Hannah C. Cox, Jennifer Saam, Garth H. Rauscher, Johnathan M. Lancaster, Kent F. Hoskins
Summary: The study found that male breast cancer (MBC) patients without BRCA1/2 mutations have significantly higher odds of a family history of breast cancer, suggesting the existence of unidentified MBC susceptibility alleles.
BREAST CANCER RESEARCH AND TREATMENT
(2021)
Review
Oncology
Siddhartha Deb, Anannya Chakrabarti, Stephen B. Fox
Summary: The importance of identifying and targeting in treating familial breast cancers is recognized. This review paper focuses on prognostic and predictive tumour biomarkers within familial breast cancer. These cancers are different from sporadic cases, with earlier age of onset and specific breast cancer subtypes. However, there is limited research on relevant prognostic and predictive biomarkers within this breast cancer subgroup.
Article
Medicine, General & Internal
Sophia H. L. George, Talia Donenberg, Cheryl Alexis, Vincent DeGennaro, Hedda Dyer, Sook Yin, Jameel Ali, Raleigh Butler, Sheray N. Chin, DuVaughn Curling, Dwight Lowe, John Lunn, Theodore Turnquest, Gilian Wharfe, Danielle Cerbon, Priscila Barreto-Coelho, Matthew P. Schlumbrecht, Mohammad R. Akbari, Steven A. Narod, Judith E. Hurley
Summary: This multisite genetic association study in the Caribbean found that hereditary breast and ovarian cancer accounted for a significant proportion among individuals with breast and ovarian cancer, with varying rates across different islands. Family history was strongly associated with germline variants in BRCA1 and BRCA2, and BRCA1 variants were specifically linked to triple negative breast cancer.
Article
Environmental Sciences
Arpan Dey Bhowmik, Tanmoy Das, Ansuman Chattopadhyay
Summary: Globally, 200 million people suffer from toxic manifestations of fluoride, including dental and skeletal fluorosis, with no currently available treatment. A study on mice exposed to environmentally relevant concentrations of fluoride revealed that fluoride may adversely affect collagen, leading to skeletal fluorosis. The study also found epigenetic regulation and changes in gene expression associated with impaired collagen synthesis and mineralization.
ENVIRONMENTAL RESEARCH
(2023)
Article
Genetics & Heredity
Irene Hidalgo Mayoral, Ainhoa Almeida Santiago, Jose Manuel Sanchez-Zapardiel, Beatriz Hidalgo Calero, Miguel de la Hoya, Alicia Gomez-Sanz, Montserrat de Miguel Reyes, Luis Robles
Summary: Hereditary breast and ovarian cancer syndrome (HBOC) is a clinical condition with increased risks of breast and ovarian cancer. Genetic diagnosis is based on identifying heterozygous germinal variants in HBOC susceptibility genes. Recently, constitutional mosaic variants have been found to contribute to the development of HBOC. These variants occur early in development, affecting multiple tissues, and are often overlooked during genetic studies. They can be passed to offspring and impact genetic counseling. This study reports a specific mosaic variant and proposes a diagnostic algorithm for identifying mosaic findings via Next Generation Sequencing (NGS).
