💬 What are your thoughts on implementing such hereditary cancer programs in diverse populations?
⬇️ We’d love to hear your thoughts and experiences on this topic!
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These insights will help guide personalized management and reduce health disparities in cancer care. 🧬
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The findings emphasize the genetic diversity and clinical relevance of hereditary cancer across Colombian populations and support the need for broader genetic counseling and testing in Latin America.
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The most common cancer types were breast, colorectal, and ovarian. Triple-negative and bilateral breast cancer were strong predictors of inherited mutations.
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PVs were identified in 26% of cases (197/769), distributed across 43 genes, and 21% (160/769) received a molecular HCS diagnosis, demonstrating a substantial genetic burden outside BRCA1/2. Moreover, 33 PVs were found in two or more unrelated patients.
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In this registry-based study, 769 patients underwent genetic counseling and were tested with a 105-cancer gene panel.
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The authors established Colombia’s largest Institutional Hereditary Cancer Program to investigate the prevalence and spectrum of germline pathogenic variants (PVs) in adults with solid tumors meeting clinical criteria for hereditary cancer syndromes (HCS).
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📢 Welcome to this month’s #EJHG #JournalClub! 🧬
This month, we’re discussing: 'Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort' from the July issue. @eshg.bsky.social
www.nature.com/articles/s41...
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🧬 The July issue of EJHG explores how chromosomal inversions, digenic inheritance, and novel gene discoveries shape our understanding of rare diseases and genomic diagnostics @eshg.bsky.social
📢 Now online! Follow the link below to explore the latest findings ⬇️⬇️
www.nature.com/ejhg/volumes...
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Performing world-class translational research to bring diagnosis, care and therapy to people with neuromuscular disease
The MRCC aims to improve the lives of people with rare conditions, across all ages, by providing a platform for the coordination of clinical care. research, education and engagement. Website: https://www.mrcc.org.uk/
Statistical genetics & cellular genomics.
PhD in Biostats @ USC in Mancuso lab and Gazal lab. Moving to UPenn for postdoc. Statistical genetics, functional architecture, single cell data. https://zixuanzhang.github.io
🧬 Clinical Geneticist in London | Paediatric focus | Innovating patient care through genomics 🇬🇧 🇪🇬🔬
Prof Emma Baple, Prof Andrew Crosby and team at @exeter.ac.uk defining the genomic and molecular basis of rare diseases
https://wohproject.com/
Genetics PhD King’s College London. Rare developmental conditions.
Clinical Scientist, geneticist, PhD.
Twin mom and Mad Cat Lady.
🧬 Consultant Clinical Geneticist 🧬 Hereditary Cancer Predisposition- risk, prevention, early detection 🧬 My own opinions here 🧬
Research genetic counsellor. PhD in Science Communication.
Researching equitable genomic testing & genetics of neurdevelopmental disorders.
https://substack.com/@jonathanrob1985?utm_source=user-menu
Neuroscientist, human genetics @UK Essen
Views are their own.
Clinical Genetics SpR in Éire 🇮🇪🧬
Postdoc University of Exeter 🇮🇪🇮🇳🇬🇧 Integrating 'omics data into rare variant genetic analyses
Formerly at Sanger institute working on recessive developmental disorders in DDD
Prof Psychiatric Genetics KCL. Lead King's Genomics facility, Genetic Links to Anxiety and Depression (GLAD) Study, and the UK Eating Disorders Genetics Initiative (EDGI-UK). Gratitude to my wonderful research group, staff, and collaborators.
Human geneticist working in clinical #genetics at MGZ Munich & at FindMe2care.
Interested in #humangenetics, #bioinformatics. Occasional #RStats & dataviz blogposts on christiangebhard.com
#Genomic #MedicalScientist, technophile, progress enthusiast. All views my own.
I report new human disease-gene associations.
Let me know if I miss one!
(use #MorbidGene - message me first so I can set you up!)
Creator: @JamesFasham.bsky.social
#Genomics #RareDisease #Genetics
We hope to be able to significantly impact the RD research landscape and improve the lives of those directly or indirectly affected by rare diseases.
Unique supports & informs anyone born w/a rare chromosome or gene disorder, their families & carers. Eurordis Patient Organisation Award winner. http://rarechromo.org
