BRCA1 and BRCA2 mutation carriers have increased risks of breast and ovarian cancer. In this Dutch study the authors examined these risks and their variation. We found that the average risks of breast and ovarian cancer by age 70 were 45% and 31%, respectively, for BRCA1 and 27% and 6%, respectively, for BRCA2 mutation carriers. […]
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Correlation between FMR1 expression and clinical phenotype in discordant dichorionic–diamniotic monozygotic twin sisters with the fragile x mutation
The clinical phenotypes of females with fragile X full mutations vary drastically. The authors describe a pair of discordant monozygotic female twins (dichorionic–diamniotic type) with full mutation and the degrees of their phenotypic discordance regarding physical, psychiatric and behavioural features were quantified in a series of neuropsychological test. This paper identified FMR1 expression in hair-root, […]
Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis
Polyps are the primary precursor lesions of colorectal cancer (CRC). Patients with large numbers of polyps (polyposis) are relatively rare and most of them can currently be explained by two strong predisposition genes (APC and MUTYH). However, the remaining 20-30% of polyposis patients remains genetically unexplained. The authors studied 252 genetically unexplained polyposis patients and […]
The spectrum of RB1 mutations identified in 403 retinoblastoma patients
The Retinoblastoma Genetic Screening Unit tests blood and tumour samples for mutations in the Retinoblastoma gene (RB1). RB1 mutations predispose for the development of retinoblastoma, a childhood eye cancer which can be inherited. Tumours form due to two RB1 mutations, either of which may be heritable. Knowing whether the retinoblastoma is heritable helps to inform […]
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
This article reports on the first clinical delineation of 3q28q27.3 interstitial deletions, by the description of 7 patients gathered through the Decipher database. Affected patients present with a recognisable dysmorphism and marfanoïd habitus, psychotic troubles and intellectual disability. The deleted region encompasses candidate genes, including SST for the neuropsychiatric findings; and AHSG, encoding a secreted […]
Association analyses identifying two common susceptibility loci shared by psoriasis and systemic lupus erythematosus in the Chinese Han population
Genome-wide association studies (GWASs) have revealed a large number of genetic risk loci for many autoimmune diseases. One clear finding emerging from the published genetic studies of autoimmunity is that different autoimmune diseases share susceptibility loci, such as psoriasis and systemic lupus erythematosus (SLE), share susceptibility loci. To identify additional susceptibility loci shared by psoriasis […]
Genetic variants in CHI3L1 influencing YKL-40 levels: resequencing 900 individuals and genotyping 9000 individuals from the general population
YKL-40, is a plasma protein mainly produced by inflammatory cells and cancer cells during tissue remodelling processes. Consequently, plasma YKL-40 levels are elevated in patients with diseases characterized by inflammation and cancer. Despite its role in many serious diseases, the genetic background for plasma YKL-40 still has not been systematically catalogued. In this study, we […]
Criteria and prediction models for mismatch repair gene mutations: a review
Carrying a mismatch repair gene mutation substantially increases risk of colorectal, endometrial and other cancers (Lynch syndrome). Several criteria have been developed to triage colorectal cancer cases for genetic testing, and several statistical prediction tools have been developed to provide probability of having a mismatch repair gene mutation. We have systematically reviewed each of these […]
Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing
Silver-Russell Syndrome is a rare imprinting disorder characterised by fetal and postnatal growth failure and body asymmetry. The spectrum of features is broad and it can be difficult to diagnose clinically. Furthermore, current genetic testing is only positive in about 50% of cases (the genetic basis for the remainder are currently unknown). We have evaluated […]
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis
The diagnosis of neurofibromatosis type I (NF1) has traditionally rested upon the presence of certain clinical features, including café-au-lait macules and freckling on the skin, and a variety of tumours, particularly neurofibromas. Skin changes are often the earliest manifestation, and therefore of particular significance when assessing people at risk of NF1. A rare, atypical, form […]