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1 day ago · Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments.Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic ...
Overview of VACTERL association - Journal of Medical Genetics
VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo-oesophageal fistula (TE), renal dysplasia (R) and limb abnormalities (L ...
Protein-truncating and rare missense variants in
Dec 31, 2020 · Background Deleterious germline variants in ATM and CHEK2 have been associated with a moderately increased risk of breast cancer. Risks for other cancers remain unclear. Methods Cancer associations for coding variants in ATM and CHEK2 were evaluated using whole-exome sequence data from UK Biobank linked to cancer registration data (348 488 participants), and analysed both as a retrospective ...
Novel germline TP53 variant (p. (Phe109Ile)) confers high risk of ...
We present five children all carrying a germline c.325T>A, p.(Phe109Ile) variant in the TP53 gene. Of these, three children have had a total of five cancers (Burkitt lymphoma, Hodgkin lymphoma, hypodiploid acute lymphoblastic leukaemia (ALL), precursor B-ALL and astrocytoma), with two being a second primary cancer before age 18. All children were conceived by the help of a …
The revised Ghent nosology for the Marfan syndrome
The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm syndrome and to improve patient management and counselling. These Ghent criteria, comprising a set of major and minor manifestations in different body systems, have proven to …
Topic Collections | Journal of Medical Genetics
Six at Sixty. September 2024 marks an exciting and important milestone for Journal of Medical Genetics as we celebrate 60 years of publishing. Over the past 6 decades, we have established ourselves as a trusted source for robust research on areas that cover the molecular basis of human disease including germline cancer genetics, clinical ...
Genetics of prostate cancer: a review of latest evidence
Prostate cancer (PrCa) is a largely heritable and polygenic disease. It is the most common cancer in people with prostates (PwPs) in Europe and the USA, including in PwPs of African descent. In the UK in 2020, 52% of all cancers were diagnosed at stage I or II. The National Health Service (NHS) long-term plan is to increase this to 75% by 2028, …
Genetic complexity of diagnostically unresolved Ehlers-Danlos …
Background The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. The genetic basis for hypermobile Ehlers-Danlos syndrome (hEDS) remains unknown. Methods Whole exome sequencing (WES) was undertaken on 174 EDS patients recruited from a national diagnostic service for complex EDS and a specialist clinic for hEDS.
Garrett A, et al. Med Genet 2020;0:1–8. doi:10.1136/jmedgenet-2020-107248 1 POSITION STATEMENT Combining evidence for and against pathogenicity for variants in ...
16p13.11 microduplication in 45 new patients: refined clinical ...
Background The clinical significance of 16p13.11 duplications remains controversial while frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or autism spectrum disorder (ASD). Previously reported patients were not or poorly characterised. The absence of consensual recommendations leads to interpretation discrepancy and makes genetic counselling ...