Homepage | Journal of Medical Genetics
4 days 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 ...
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, …
Current Issue - Journal of Medical Genetics
Aug 13, 2024 · Review: Genetics of prostate cancer: a review of latest evidence (13 August, 2024) Free. RoseHall, ElizabethBancroft, NoraPashayan, ZsofiaKote-Jarai, Rosalind AEeles. Original research: Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs) (17 August, 2024)
Authors - Journal of Medical Genetics
Impact factor: 3.5. 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 ...
About - Journal of Medical Genetics
Aims and scope. 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 ...
Variant reclassification and clinical implications
Genomic technologies have transformed clinical genetic testing, underlining the importance of accurate molecular genetic diagnoses. Variant classification, ranging from benign to pathogenic, is fundamental to these tests. However, variant reclassification, the process of reassigning the pathogenicity of variants over time, poses challenges to …
Online First - Journal of Medical Genetics
5 days ago · Online First. October 16, 2024. Cancer genetics. Commentary on Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank. Pål Møller, Toni T Seppälä, Mev Dominguez-Valentin, Julian Sampson. doi: 10.1136/jmg-2024-110385.
Commentary on Estimating cancer risk in carriers of Lynch …
Oct 11, 2024 · In their recent article, Fummey et al 1 reported incidences of colorectal cancer (CRC) and other cancers in carriers of pathogenic mismatch repair ( path_MMR ) variants in a UK Biobank. Although cancer risks with smaller CIs have been determined previously in larger numbers of carriers using the Prospective Lynch Syndrome Database (PLSD),2 the findings from the UK Biobank are important as PLSD ...
JMG at 60 | Journal of Medical Genetics
Six decades have passed since the publication of the first issue of the Journal of Medical Genetics in September 1964. This would seem to be an appropriate time to look back over the Journal’s contribution in publishing new advances in the field. Papers published in JMG have been highly cited over the years, with many having received hundreds of citations while a …
Association between genetic polymorphisms and endometrial …
Introduction Endometrial cancer is one of the most commonly diagnosed cancers in women. Although there is a hereditary component to endometrial cancer, most cases are thought to be sporadic and lifestyle related. The aim of this study was to systematically review prospective and retrospective case–control studies, meta-analyses and genome-wide association studies to identify genomic variants ...