BRCA1 is the major risk gene for breast cancer. However, not all women who carry harmful BRCA1 mutations (‘BRCA1 carriers’) develop breast cancer, and those who do can be diagnosed at very different ages, suggesting that additional factors influence the risk of BRCA1 carriers. This study analyzed the protein-coding genes of 321 Israeli women who […]
Category: Uncategorized
VHL gene fragment analysis: large inversion detection in Alu region for clinical applications (Contributed by Ryan Baugher)
Von Hippel-Lindau (VHL) syndrome is a disorder that puts patients at increased risk of developing benign and malignant tumors within various organs. While current genetic tests demonstrate successful detection of minor mutations, large structural rearrangements of the genome are undetectable by existing tests, indicating need for custom test to confirm these large alterations. We validated […]
Field Watch: FDA’s genome-editing guidance
The FDA’s new draft guidance on safety assessment for human genome-editing therapies reflects increasing regulatory attention to off-target edits, chromosomal alterations, and sequencing-based approaches to safety evaluation. It gives a sense of the questions likely to shape the next stage of clinical development, particularly how unintended genomic effects are detected, interpreted, and weighed. As genome […]
Optical Genome Mapping Identifies Previously Undetected Causal Variants in Early-Onset Developmental Epileptic Encephalopathies (Contributed by Sanem Yilmaz)
Developmental epileptic encephalopathies (DEEs) are severe childhood conditions that cause early-onset seizures and developmental delay. Although genetic testing can identify a cause in many patients, some remain undiagnosed despite extensive investigations. In this study, we used a newer method called optical genome mapping (OGM), which can detect certain genetic changes missed by standard tests. Among […]
Clinical Characteristics and Prognosis of SDHD Pathogenic Variant Carriers: A Systematic Review and Meta-Analysis (Contributed by Professor Bo Shen)
Individuals with an inherited pathogenic variant in the SDHD gene are at risk of developing rare tumours known as PPGLs. Our study synthesized global research to clarify how this cancer risk evolves across a patient’s lifetime. We found that the likelihood of developing a tumour rises significantly with age, reaching 82% by the age of […]
JMG investigated and acted
JMG acted: a guest-edited special issue was retracted following an investigation into concerns about the integrity of peer review and editorial handling. The journal remains committed to rigorous editorial standards and research integrity (https://jmg.bmj.com/content/early/2026/04/12/jmg-2026-56-1-2019ret). […]
ACAN-related disorder, antenatal presentation and phenotypic variability: A Case Series (Contributed by Dr Nikhil Pattani)
ACAN-related disorder may present as a non-syndromic cause of short stature or a skeletal dysplasia. Advanced bone age is considered its unique characteristic. Our study investigated four paediatric and five adult patients across four affected families, possessing two previously reported and two novel ACAN variants. Of the children, one presented before birth with shortened long […]
Journal Watch: Base Editing of HBG1 and HBG2 Promoters in Sickle Cell Disease
In a recent report published in the New England Journal of Medicine, Gupta, Sharma, Frangoul, Kanter, Mapara, Dalal, Alavi, and colleagues described interim results from the phase 1–2 BEACON study evaluating ristoglogene autogetemcel (risto-cel) in patients with sickle cell disease. This base-editing approach targets the HBG1 and HBG2 promoters to increase fetal hemoglobin production while […]
Expanded carrier screening in a Southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants account for nearly half of the at-risk couple rate (Contributed by Sha Liu)
A study of over 3,700 people in China found that carrying hidden gene variants is common. Certain variants found mainly in East Asians significantly influence the chance that both partners carry the same condition. Screening based only on global data may miss these variants. Incorporating population-specific information can therefore provide a clearer picture for genetic […]
Population Genetics and the Future of Cancer Screening
Population genetics is changing how we think about cancer screening. This short report identifies ATM c.7374_7375insAlu as a founder pathogenic variant in French Canadians associated with increased risk of pancreatic and breast cancer. The broader point is clinical as much as genetic: populations with shared ancestry can carry recurrent disease-causing variants that may be overlooked […]