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Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations.
Clin Epigenetics
December 2024
Hereditary Cancer Group, ONCOBELL Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Spain.
Background: Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are "primary" epimutations, arising de novo without any apparent underlying cis-genetic cause, and are reversible between generations.
View Article and Find Full Text PDFCharacteristics of Cancer in Subjects Carrying Lynch Syndrome-Associated Gene Variants in Taiwanese Population: A Hospital-Based Study in Taiwan.
Cancers (Basel)
October 2024
Department of Medical Research, Taichung Veterans General Hospital, Taichung 40705, Taiwan.
Lynch syndrome (LS) is an autosomal dominant disorder characterized by increased risks of colorectal and endometrial cancers. LS is defined by pathogenic variants in mismatch repair (MMR) genes, including MLH1, MSH2, and MSH6. Data on the prevalence and associated cancer risks of LS in the Han Chinese population remain limited.
View Article and Find Full Text PDFTwo-hit model for the development of aldosterone-producing adenoma: supporting from two new cases.
J Hypertens
October 2024
NHC Key Laboratory of Endocrinology, Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences.
Article Synopsis
- - A two-hit model for aldosterone-producing adenoma (APA) development has been proposed, and new cases have been documented that support this model, with two cases of primary aldosteronism (PA) featuring large functional adenomas and mutations in relevant genes.
- - The first patient also had a colorectal cancer history and exhibited mutations in the APC gene, confirmed by immunohistochemistry, while the second patient had a mutation in the CTNNB1 gene.
- - This study highlights that the two-hit model involves a sequence of events: the first mutation promotes cell proliferation, while the second results in hormonal hypersecretion, although further research is needed to identify the factors behind the first hit that triggers cell proliferation. *
Clinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series.
J Cutan Pathol
December 2024
Department of Pathology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Article Synopsis
- Basal cell nevus syndrome (BCNS) can lead to multiple early-onset basal cell carcinomas (BCCs), with some cases linked to germline SUFU mutations, resulting in varying phenotypes, including multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC).
- A study involving three patients with the MHIBCC phenotype identified new pathogenic SUFU variations, highlighting the different health risks associated with these mutations compared to other types of BCNS.
- It’s important for healthcare providers to recognize the MHIBCC phenotype to offer appropriate care, as the implications of germline SUFU mutations differ from those of other genetic syndromes like BCNS.
Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure.
J Allergy Clin Immunol Glob
November 2024
Department of Clinical Immunology, Kochi Medical School, Kochi University, Nankoku, Japan.
Article Synopsis
- The study investigates a young boy with severe autoimmune conditions who was found to have a germline gain-of-function mutation in the STAT3 gene through whole-exome sequencing.* -
- Treatment with the targeted therapy tocilizumab led to a reduction in hospital stays and slowed the progression of pulmonary fibrosis, showing promise for managing his condition without increasing steroid use.* -
- The findings suggest that genetic testing and functional analysis of STAT3 mutations are important for diagnosing early-onset autoimmune diseases and for considering targeted treatment options.*
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