This is the face of a very excited, honored and grateful researcher! Our project (with @NicolineHoogerb and others) that focuses on cancer predisposition in adolescents and young adults is granted by @kwf_nl! #radboudumc #humangenetics #cancergenomics

RT @insightmeeting: Less than 3 months till we unite in Barcelona for #Insight2024! 🎉 If you missed the early bird rate, there's still time….

RT @ahoischen: Few seats available for the 36th Bertinoro-course on “Clinical Genomics and NGS” for in person participation. We also have a….

RT @GIMJournal: Biallelic CHEK2 variants and increased risk of multiple primary malignancies - What are the implications for risk managemen….

RT @ahoischen: Few more days to take part in our “record attempt” - we have the ambition to have most abstract submissions ever in ESHG his….

RT @ahoischen: Bitter sweet day! Farewell symposium for Han Brunner - with brilliant presentations by the outstanding @EichlerEE @mehurles….

RT @CGAIGC: 2/🚨We invite @geth_org members & all of the #HereditaryGICancer community to register for our webinar.🗓️July 21, 2023.⏲️10am PT….

The work is out in @AGA_Gastro!See also the link below for further details. If you have any questions, please send me a DM or email!

Thanks @eshgsociety for allowing me to share our work on noncoding aberrations in Lynch syndrome during the S23-Beyond coding point mutations session this morning! Special thanks to @ahoischen and @LValleResearch for moderating the session live! 😉 #ESHG2023 #cancergenomics.

📣 We are hiring! Are you interested in a PhD position in Cancer Genomics? Please have a look at the following position: #cancergenomics #radboudumc.

📣 Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome #cancergenomics #radboudumc #lynchsyndrome.

Very proud of this achievement by @Solve_RD! Sharing data, systematic re-analysis ánd expert review by our ERNs really works! 📣📣📣 Go #SolveRD!!.

RT @LValleResearch: Feels good to spend some quality time with colleague friends when attending conferences. @Solve_RD . Here with @Nicolin….

A rainy Friday evening well spent. My @PacBio Revio and Onso sequencers are installed and ready to go! 🧬👩🏼‍🔬

RT @NicolineHoogerb: Dit artikel kan bijdragen aan een betere behandeling van diverse vormen van kanker bij mensen met Lynch syndroom (erfe….

As MSI-H/dMMR tumors are very responsive to immune checkpoint inhibitors, this knowledge may lead to a paradigm change in the treatment of patients with Lynch syndrome, which may start with MSI-H/dMMR testing of all malignancies in patients with Lynch syndrome. 9/9.

Our study shows that in patients with Lynch syndrome more than half of the tested non-CRC/non-EC malignancies, for which an increased risk as well as no increased risk is known, are MSI-H/dMMR. 8/9.

Interestingly, a substantial fraction (57%) of non-Lynch-spectrum malignancies were also MSI-H/dMMR. While individuals with Lynch syndrome are not at increased risk to develop breast cancer, we observed that the rare medullary subtype of breast cancer mostly were MSI-H/dMMR. 7/9.

In total , we retrieved 236 malignancies other than CRC and EC and showed that 57% of them were MSI-H/dMMR. The majority of malignancies (87%) described to be part of Lynch syndrome were MSI-H/dMMR. 6/9.

16% of individuals with Lynch syndrome in our cohort developed malignancies other than CRC and EC. We investigated the standard incidence ratio (SIR) and showed increased SIRs for malignancies described to be part of Lynch syndrome, but also for other types of malignancies. 5/9.

Furthermore, she investigated how often these tumors also show mismatch repair deficiency (dMMR) by using immunohistochemistry, but also by investigating the presence of microsatellite instability (MSI-H) and a somatic second hit in the tumors. 4/9.