Obesity is a global severe health problem, highly influenced by environmental factors such as a sedentary lifestyle and unhealthy eating habits. In rare cases, a genetic defect can be identified as the main cause of obesity. Our article summarizes the genetic obesity test results of 1230 Dutch obese patients. This test included 52 obesity-associated genes. […]
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Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect
Hereditary lobular breast cancer is an inherited syndrome that is associated with the CDH1 germline mutations. The CDH1 gene plays a crucial role in the correct function of human cells. Loss of the encoded protein, so called E-cadherin, represents a dramatic event; in human epithelial cancers, as diffuse gastric and lobular breast tumors, this loss […]
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses
Rolandic epilepsy (RE) is the most common genetic childhood epilepsy, with focal nocturnal seizures and neurodevelopmental impairments. In this study of 186 children with RE from ethnically diverse populations, we identified rare copy number variation (CNV, large duplications or deletions of DNA) in 84. Children with RE carried CNVs that disrupt genes known to cause […]
Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study
Prader-Willi syndrome (PWS) is the most common known cause of life-threatening obesity due to errors in genomic imprinting from chromosome 15 defects. We summarized the frequency and characterized the PWS molecular classes using advanced genomic technology in 510 individuals as the largest cohort to date (paternal 15q11-q13 deletion in 60% of cases, maternal disomy 15 […]
Evaluation of polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study
Identifying women at high epithelial ovarian cancer (EOC) risk can inform personalised decisions on risk-reducing surgery and can facilitate early detection strategies. Genome-wide association studies have identified >30 single nucleotide polymorphisms (SNPs) associated with EOC. We evaluated their combined effects (polygenic risk scores – PRS) on EOC risk and assessed their implications for EOC risk […]
Old gene, new phenotype: Splicing altering variants in CEACAM16 cause recessive non-syndromic hearing impairment
CEACAM16 is an adhesion protein that plays a critical role in ensuring proper auditory function. Defects in this protein have been linked to dominant hearing loss through a dominant-negative mechanism. Here we report that novel splice-altering variants in CEACAM16 gene are associated with autosomal recessive nonsyndromic hearing loss. Our findings broaden the pathogenic mechanisms of […]
Genetic and phenotypic difference in CD8+ T cell exhaustion between chronic hepatitis B infection and hepatocellular carcinoma
To date, few studies have investigated the differences in T cell exhaustion between chronic infection and cancer. In this study, we assayed the phenotypes and functional states of CD8+ T cells separating from human chronic hepatitis B (CHB) tissues and hepatocellular carcinoma (HCC) tissues, and re-analyze the single-cell sequencing data (GSE98638) of T cells from […]
CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe
The CDKN2A gene is the most important susceptibility gene for skin melanoma. Carriers of a mutation in this gene not only have a high risk to develop one or more melanomas at a young age, but also have an increased risk for other cancers, especially pancreatic cancer and upper airway cancer (mouth and throat). We […]
Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population
Women carrying a fault in BRCA1/BRCA2 genes are at increased risk of breast and ovarian cancer. Identification of BRCA-carriers through genetic testing offers opportunities of early diagnosis, targeted treatment and cancer prevention. Our study evaluated the current rate at which BRCA-carriers have been detected and the time it would take to detect all identifiable BRCA-carriers […]
Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders
Chitayat-Hall syndrome (CHS) causes contractures of hands and feet, intellectual disability and growth hormone (GH) deficiency, among other features. GH deficiency leads to poor growth and may cause recurrent episodes of hypoglycemia, which can damage the developing brain if untreated. We identify mutations in MAGEL2, located within the Prader-Willi syndrome region at 15q11-q13, as the […]