Excited to report our study of #endometrialcancer #GWAS variants for effects on #splicing using a new prioritisation workflow medrxiv.org/content/10.110… Daffodil Canson Amanda Spurdle Tracy O'Mara 1/8

Excited to share our new paper! Shout out to our research team at @QIMRBerghofer for making this happen, Dylan Glubb Tracy O'Mara Amanda Spurdle 💯

In a new Human Genetics and Genomics Advances article, researchers developed a prioritization workflow & identified potentially causal endometrial cancer GWAS risk variants with plausible biological mechanisms. Learn more: cell.com/hgg-advances/f…

In the latest edition of Inside Human Genetics and Genomics Advances, hear Daffodil Canson, PhD, discuss her paper, "Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes": bit.ly/43XZbNk

I'm hiring! I have a 2-year funded #endometrial #cancer project for a postdoc with #organoid culture experience. Based in Brisbane with views like this, how can you say no? HMU if you have Qs about the role. Applications close 6th June shorturl.at/abhlz

I could be biased but I think Amanda Spurdle @QIMRBerghofer is the best at explaining #ACMG variant classification for genes like #BRCA1, and in a way that is understandable, digestible and fun International Congress of Genetics 2023 #ICG2023

Interested in pursuing a PhD in cancer genomics? We're Medical Genomics looking for students (National & International) with bioinformatics or computer science skills to work on this project: rb.gy/wjkfm scholarship details: rb.gy/es8cv !! #PhDposition

Ambry is proud to partner with researchers from around the world. We connected with Cristina Fortuno and Amanda Spurdle on their recent work to clarify the gene-disease relationships between CHEK2 and TP53. For more information, check out: hubs.ly/Q0258VNz0 #BreastCancer

Happy to share our new article in Human Molecular Genetics by Cristina Fortuno: "Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines". NeurologyGeneticsCyp academic.oup.com/hmg/advance-ar… 1/3

Li Fraumeni Syndrome = increased #cancer risk Now new #research led by our own Dr Cristina Fortuno & Amanda Spurdle with Prof Paul James from Peter Mac Cancer Centre could help detect & manage cancers earlier in people with the condition. Read more bit.ly/48Ban3u NHMRC NBCF Australia

First flash talk: Cristina Fortuno talking about Breast Cancer risk variants #PAQ2024

Next we have Aimee Davidson with her talk about predisposed genes in breast cancer #PAQ2024

Next is Daffodil Canson with her talk about the updated SpliceAI-10k calculator #PAQ2024

So excited that this is out! Thanks to all my fantastic collaborators! QIMR Berghofer ClinGen

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel: The American Journal of Human Genetics cell.com/ajhg/fulltext/…

Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset: The American Journal of Human Genetics cell.com/ajhg/fulltext/…

Sharing our team's latest works on TP53 gene variants that alter mRNA splicing! Explaining risks and improving genetic testing for the most serious of cancer gene variants - Scimex share.google/QrcdXxxS5smR4p…