Women with inherited BRCA1/2 gene alterations are at high risk of ovarian cancer, so usually opt for surgery to remove their ovaries and tubes. Many women delay surgery to complete families or avoid premature menopause. This study confirmed previous research showing that a 4-monthly blood test can detect ovarian cancer at earlier stages, resulting in […]
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New insights into CC2D2A-related Joubert syndrome
Joubert syndrome (JS) is a complex, genetic, neurological disorder which includes a specific cerebellum malformation. Multiple genes are implicated in this disease. It is known to be a severe disorder because it causes important neurodevelopmental disabilities and other complications such as low vision, kidney disorder and liver fibrosis. In our French cohort, JS patients caused […]
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities. Pierron, et al.
Autosomal dominant neurogenetic diseases are characterized by progressive motor and cognitive impairment without curative treatment. They present with variable disease severities and possible transmission to the offspring can be experienced as burdensome. All are accessible to assisted reproductive options. We conducted a survey to assess individual perception of disease severity, opinion on reproductive options and […]
GERMLINE MUTATIONS IN WNK2 COULD BE ASSOCIATED WITH SERRATED POLYPOSIS SYNDROME, Soares de Lima et al.
Patients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for colorectal cancer. Our main aim was to identify the inherited genetic basis of this disease. We performed germline exome sequencing in 39 SPS patients from 16 families and sequenced specific genes in an independent cohort of 211 unrelated […]
The clinical, neuroimaging, and molecular characteristics of PPP2R5D related neurodevelopmental disorders: an expanded series with functional characterization and genotype-phenotype correlation
Genetics variants in the PPP2R5D gene have been identified to cause a neurodevelopmental disorder characterized by intellectual disabilities, autism spectrum disorder and epilepsy, among others features. Our study, describing 76 individuals, expands the known clinical and molecular spectrum of PPP2R5D related disorders. This allowed us to identify a correlation between groups of variants and their […]
Identifying the molecular drivers of ALS-implicated missense mutations
Genetic mutations have long been identified as contributors to ALS, however, their molecular-consequences have remained elusive. To address this, we analysed the effects of ALS missense mutations in SOD1, FUS and TDP-43 using in silico tools. FUS and TDP-43 mutations affected disordered regions associated with phase separation and aggregation, while SOD1 mutations destabilized the homodimer, […]
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study
BOADICEA is a multifactorial breast cancer risk model for predicting the future risk of developing breast cancer on the basis of the combined effects of cancer family history, lifestyle, hormonal and reproductive risk factors, mammographic density, polygenic risk score and rare pathogenic variants in all eight established breast cancer susceptibility genes. Here, Yang et al […]
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence
Pathogenic variants in BARD1, RAD51C and RAD51D have recently been established as breast cancer susceptibility genes; and pathogenic variants in PALB2 have been shown to be associated with epithelial ovarian cancer risk. No cancer risk prediction model currently exists which incorporates these associations. Here, the BOADICEA multifactorial breast and ovarian cancer risk prediction model was […]
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases
A 313-variant-based polygenic risk score (PRS) is shown to stratify women from breast cancer families into different clinically relevant risk categories. Adding this PRS to family history-based risk prediction would have changed screening advise for 1 out of 3 women diagnosed with breast cancer (BC) at a young age or with a positive family history. […]
Patient-facing Digital Tools for Delivering Genetic Services: A Systematic Review
Digital tools are used to increase patient access and efficiency in genetic services. We reviewed outcomes of patient-facing digital tools used across the genetic testing journey. Our review found that digital tools can improve patient outcomes and system efficiencies. However, most existing tools are developed for the pre-test phase and cancer setting, limiting our understanding […]