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 […]
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Old gene, new phenotype: Splicing altering variants in CEACAM16 cause recessive non-syndromic hearing impairment (Contributed by Kevin T Booth)
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 (Contributed by Xiaochen Wang)
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 (Contributed by Dr. Thomas P. Potjer)
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 (Contributed by Dr. Ranjit Manchanda)
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 (Contributed by Dr. Rebekah Jobling)
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 […]
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome (Contributed by Professor Alan Lehmann)
Cockayne Syndrome (CS) is a rare inherited disorder with severe problems of growth and development in many parts of the body, as well as causing sun-sensitivity. In a four-centre study from scientists in Nagoya, Japan, Strasbourg, France, Pavia, Italy and Sussex, UK, we have identified the genetic mutations causing the disorder in 124 CS patients […]
Complex phenotype of chromosomal abnormality and muscle dystrophy (Contributed by Dr. Judit Balog)
Monosomy of several genes as a results of partial or full chromosome arm deletion contributes to the development of a complex phenotype which makes diagnosis and possible therapy difficult. Our study explores if individuals with partial or full deletion of chromosome 18 short arm, resulting in the monosomy of SMCHD1 (and several other) gene, can […]
Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly (Contributed by Dr. Aslı Tolun)
In a Pakistani family with limb malformations that include short fingers, cross fingers, fused fingers, fused finger bones, fused toes and supernumerary toes plus skeletal defects that include scoliosis, dislocated patellae and fibulae and pectus excavatum, we identified the underlying mutation as a homozygous five-amino acid deletion in protein CHST11. Our findings confirm the crucial […]
Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada (Contributed by Dr. W.T. Gibson)
This is an update of previous 2001 Canadian guidelines on how doctors and diagnostic lab specialists should use and interpret a technology called chromosomal microarray analysis (CMA) when this test is done on human DNA during an ongoing pregnancy. The authors developed these guidelines after reading and interpreting up-to-date international literature in the field, and […]