Mutations in a variety of Ras-MAPK pathway genes are detected in 70-80% of patients with Noonan Syndrome (NS) and related disorders, collectively referred to as RASopathies. Certain patients with RASopathies are predisposed to developing juvenile myelomonocytic leukemia (JMML), a myeloproliferative disorder of early childhood. We recently identified somatic mutations in RRAS2 in JMML and hypothesized […]
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Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels (Contributed by Elisa van Leeuwen)
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 […]
Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations (Contributed by Dr. Ranjit Manchanda)
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 (Contributed by Dr. Zheng-mao Hu)
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 (Contributed by Drs. Geoff Woods and Stella Zhang, for the authors.)
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 (Contributed by Dr. Xubao Liu)
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 (Contributed by Victoria Sopik and William Foulkes)
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 (Contributed by Dr. John Sayer)
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 (Contributed by Dr. Maria J. Baker)
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 (Contributed by Ada Collura)
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 […]