So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies. These associations are largely driven by common variants, their function is often not known, and many are likely to be markers for the causal variants. In this study we aimed to identify more new rare and low-frequency functional […]
Latest articles
Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations
Newer genetic counselling approaches are needed to test large populations for cancer gene alterations. We compared traditional face-to-face counselling with a DVD assisted approach. This randomised study was undertaken in the London Jewish population while testing for BRCA gene alterations. We found DVD assisted counselling was not inferior to traditional face-to-face counselling for increase in […]
AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis (AIS) is a common spinal deformities found in adolescent populations, while Mendelian-inherited family cases are quite rare. An autosomal-dominant inherited AIS family has been investigated and one missense mutation harbored in AKAP2 gene was found. The AKAP2 gene is located in a previously reported linkage locus (IS4) on chromosome 9q31.2-q34.2, which could […]
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain
Congenital Insensitivity to Pain (CIP) is a very rare condition. Affected people are entirely unable to feel pain. This is usually caused by faults in a handful of genes; genes that are normally involved in pain sensing. In 2015 a new pain gene was been identified called PRDM12. The features of people with PRDM12 […]
Circular RNAs: a new frontier in the study of human diseases
Circular RNAs (circRNAs) represent a recent research hotspot in the RNA field. Reports are linking heterogeneous circRNA groups and many different human disorders, especially cancer. In this review, we focused on the rapidly advancing field of circRNAs that are involved in human diseases. First, we discuss tools (for example, public databases) that scan genome spans […]
Risky Business: Getting a Grip on BRIP
BRIP1 has been implicated in hereditary breast cancer due to its role in DNA repair and cell-cycle control. BRIP1 was first associated with breast cancer in 2006, when a study of 1,212 familial breast cancer cases and 2,081 controls reported a significant two-fold increased risk. Many commercial laboratories include this gene on breast cancer susceptibility […]
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel
Cystic kidney disease is an inherited condition that can present before birth, using antenatal ultrasound scanning. The finding of cystic kidney disease is important as it can be associated with other developmental problems affecting the brain, heart and skeleton. The genetic changes underlying cystic kidney disease are numerous. Here we have used a panel of […]
An interstitial deletion within 9p21.3 and extending beyond CDKN2A predisposes to melanoma, neural system tumours and possible haematological malignancies
We report a 52 year old Caucasian male with a referring diagnosis of neurofibromatosis type 1 (NF1), due to multiple nerve sheath tumors, who was subsequently found to have a large deletion spanning CDKN2A,the major melanoma susceptibility gene, and including approximately 24 additional genes underlying his strong family history of melanoma and neural system tumors. […]
HSP110 T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancer
Every colorectal cancer (CRC) patient should be tested for Microsatellite Instability (MSI), as a first screen for Lynch syndrome (LS). Recently, clinical benefit from immune checkpoint blockade was reported in metastatic MSI CRCs. Hence, there is a high level of interest in studying the MSI phenotype as a potential prognostic and predictive biomarker in CRC […]
Multigene testing of moderate-risk genes: be mindful of the missense
What fraction of early-onset breast cancer patients inherited a clinically actionable moderate-risk genotype? To estimate this, we applied both multi-gene mutation screening and SNP genotyping to 1,297 early onset breast cancer cases and 1,121 controls. Mutation screening revealed that 2.1% of the cases carried an obviously pathogenic protein-truncating variant in one of nine moderate-risk genes, […]