Our new paper demonstrates that BOADICEA predicts risks accurately in different risk categories and discriminated well in BRCA1/2 carriers! Antonis Antoniou JMG doi.org/10.1136/jmg-20…

Excited to share our recent JMG paper which shows: - POT1 variants present in 5% high-risk melanoma cases - POT1 cases have high naevi counts (>2mm) - naevi locations not assoc with UV damage Congrats Ellie Maas! Integrating Genomics into Medicine UQ Dermatology Research Centre GCR Connect doi.org/10.1136/jmg-20…

🚨 Still on Tatton-Brown-Rahman syndrome: ▶️ Importance of cardiovascular monitoring in patients with TBRS ▶️8 unpublished individuals with TBRS and aortic aneurysms ▶️ Suggested followup for this condition Check: bit.ly/3zCkKs1 ERN-ITHACA VASCERN

#ICYMI – Check out this paper in JMG assessing the value and efficacy of expanded #carrierscreening over traditional ethnicity-based carrier screening, identifying nearly 2X couples at-risk! jmg.bmj.com/content/early/…

🆕 Cancer risk estimates for Lynch syndrome: ▶️ Large population-based cohort: UK Biobank ▶️ 830 carriers of pathogenic or likely pathogenic MMR gene variants ▶️ Results suggest that Breast Cancer is not an LS-related cancer 📌 bit.ly/3WgBA7t 👤 Dr Ian Frayling 🇺🇦 #LongCovid

Launching later this year, BMJ Connections Clinical Genetics and Genomics will be an online only #openaccess journal dedicated to advancing the understanding of human #genetics and #genomics. Read more here: bit.ly/4dlgRGA

🆕 First case of Familial Developmental Dysplasia of the Hip (DDH) explained by a germline variant in the transcription factor TRIM33, affecting its downstream BMP pathway ▶️ Check: bit.ly/4cdAu2p 👥 Yuval Yogev Ohad Birk

⚠️Breast Cancer patients in England: bit.ly/3yr9dvA ▶️ Pathogenic BRCA1/2 variants are less likely in women under 40 w/ grade 1 breast cancer than in those aged 40-49 w/ grade 3 cancer ▶️ Prioritize PV likelihood over age criteria 👥George Burghel - جورج برغل Emma Woodward

Launching later this year, BMJ Connections Clinical Genetics and Genomics will be an online only #openaccess journal dedicated to advancing the understanding of human #genetics and #genomics. Read more here: bit.ly/4dlgRGA

▶️Double mosaic variants at the same GRIN2A nucleotide, like splicing variants, associate with milder phenotypes. ▶️High-coverage sequencing panels are an essential complement to WES and WGS for detecting mosaic variants. Check: 👀 bit.ly/3SGCbP1

🚨 Highlight: Genetics of prostate cancer ▶️Genomics can increase the efficiency of Prostate Cancer screening, a largely heritable and polygenic disease. ▶️ Check this seminal review by oncogenetics experts working with PrCa: bit.ly/3Mg7YTj 👥 Nora Pashayan

▶️ Largest cohort of patients with ALS with SQSTM1 variants ▶️ Identification of novel variants and their associated phenotypes ▶️32 patients with 25 different SQSTM1 variants with a mutant frequency of 1.6% Check: bit.ly/3Mb0il0

▶️ NMTC family identified with a heterozygous variant c.507G>T in the TINF2 gene ▶️ This variant increases the amount of alternative transcripts predicting a truncated protein, together with a novel transcript producing a in-frame deletion ▶️ Check: bit.ly/3YQDkao

🆕 : Novel germline variants that can be associated with gastrointestinal stromal tumours development ▶️ Potencial role for CFHR1 and CFHR3 structural variants Check: bit.ly/3Mb0il0 👥 Javier Martin Broto Daniel López López

Dear friends, did you know that the first issue of JMG was released 60 years ago? 🎉 In September, we're excited to celebrate our incredible journey with you, do not miss our “Six at Sixty” special commentary pieces! We will share some of our most widely read articles,

🆕 Functional impact of splice site variants in patients with MED13L syndrome ▶️ Haploinsufficiency explained by intron retention causing a frameshift and premature translation termination confirmed by RNA analysis 🔍📊 ▶️Combinined in silico and functional analyses provided a

🆕 Novel homozygous loss-of function variants in the JPH1 gene cause a form of congenital myopathy characterised by severe facial and ocular symptoms ▶️ Four unrelated individuals with congenital myopathy characterised by facial, ocular and bulbar involvement presented

🆕 Relative and Absolute risks for all cancer types for carriers of protein-truncating variants (PTVs) and rare missense variants (rMSVs) in ATM and CHEK2 ▶️ Cancer associations for coding variants were evaluated using whole-exome sequence data from UK Biobank ▶️The estimated

🆕 Interested in classifying genomic variants? Check the recently developed PS4-likelihood ratio calculator (PS4-LRCalc)! ▶️ Applicable across both highly penetrant variants such as in ultra-rare Mendelian disease, as well as less penetrant effects from larger case series ▶️ A

🆕 Whole exome sequencing performed in a recurrent preimplantation embryo developmental arrest (RPEA) cohort This study highlights: ▶️ The importance of α-tubulin isotypes in preimplantation ▶️Human biallelic variants of α-tubulin subtypes as a possible cause of spindle assembly