Rapid automatized naming (RAN) and rapid alternating stimulus (RAS) are measures that involve naming familiar items quickly and accurately. They are also reliable predictors of dyslexia. The high correlations between RAN, RAS, and reading could be due to genetic factors that they share in common, and that modify an underlying biological mechanism. We describe genetic […]
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Resectable Lung Lesions Malignancy Assessment and Cancer Detection by Ultra-Deep Sequencing of Targeted Gene Mutations in Plasma Cell-Free DNA
Liquid biopsy detecting circulating tumor DNA in the blood is promising in non-invasively providing valuable molecular information on the small nodules found on the low dose CT images. In a cohort of 192 patients with nodules sized between 0.5 – 3 cm and diagnosed by pathology to be one quarter of benign disease and 85% […]
Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: Results of the observational AGO-TR1 study
For individuals with ovarian cancer, therapy options mainly depend on BRCA1/2 germline status. As part of the observational AGO-TR1 study (NCT02222883), we conducted a paired blood/tumor analysis of 473 patients with ovarian cancer. Deleterious germline variants were found in 26.4% of the individuals, including BRCA1 and BRCA2. Tumor sequencing of the BRCA1, BRCA2, PIK3CA and […]
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report
The Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA – https://enigmaconsortium.org/) is a global research active consortium in which members have expertise in developing and bringing together a robust evidence base to underpin robust clinical utilization of inherited variants in breast and ovarian cancer susceptibility genes. The consortium was created a decade ago […]
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
Balanced chromosomal rearrangements associated with intellectual disability and / or malformations are rare events but are still challenging for genetic counselling since breakpoints characterisation is not performed routinely. We used whole genome sequencing to characterise the breakpoints of chromosomal rearrangements in 55 patients with ID/M. We were able to identify the rearrangement in 49/55 patients […]
Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension
The penetrance of a genetic disorder is the risk for disease onset, given the disease-causing mutation. Heritable pulmonary arterial hypertension (PAH) is a rare genetic disorder characterised by mutations mostly occurring in the bone morphogenetic protein receptor type 2 (BMPR2) gene, and a wide heterogeneity of penetrance modifier mechanisms. In this study, we genotyped 32 […]
Review of the scientific evolution of gene therapy for the treatment of homozygous familial hypercholesterolaemia: past, present and future perspectives
Familial hypercholesterolaemia (FH) is a devastating disease that leads to extremely high cholesterol levels and severe cardiovascular disease. The severe homozygous variety (HoFH) is not successfully treated with standard cholesterol-lowering therapies. Because HoFH is mainly due to mutations in the LDLR, this disease has been proposed as an ideal candidate for gene therapy. Several preclinical […]
Evidence for Heightened Genetic Instability in Precancerous Spasmolytic Polypeptide Expressing Gastric Glands
Spasmolytic polypeptide expressing metaplasia (SPEM) is present in more than 90% of resected gastric cancer tissues. However, although widely regarded as a pre-cancerous tissue, its genetic characteristics have not been well studied. In this work, we show for the first time that elevated genetic instability is a critical property of SPEM cells (TFF2 positive cells […]
Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome
Colorectal cancer (CRC) patients with mismatch repair-deficient (dMMR) tumors without MLH1 methylation or germline MMR pathogenic variants (PVs) were previously thought to have Lynch syndrome (LS). It’s now appreciated that they can have double somatic (DS) MMR PVs. We explored clinical characteristics between patients with DS tumors and LS in two population-based cohorts (Ohio 2013-2016, […]
Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest
Successful human reproduction requires normal spermatogenesis, oogenesis, fertilization, and early embryonic development, and abnormalities in any of these processes will result in infertility. Early embryonic arrest is commonly observed in infertile patients with recurrent failure of assisted reproductive technology (ART). However, the genetic basis for the phenotype is largely unknown. In this study, we identified […]