Publications by authors named "E Hahnen"
Article Synopsis
- Ovarian cancer patients with Homologous Recombination Deficiency (HRD) may benefit from PARP inhibitor therapy after platinum chemotherapy, and predicting this benefit through whole slide images (WSIs) could provide a quicker and less costly alternative to molecular tests.
- A Deep Learning (DL) model was trained on H&E stained WSIs using a specific HRD ground truth, and it was tested on a separate cohort to see how well it predicted HRD status and the benefit of olaparib treatment.
- Although the model showed potential, with a significant improvement in progression-free survival (PFS) for HRD positive patients treated with PARP inhibitors, its overall prediction accuracy was lower than desired, indicating that further
Background: The 313-variant polygenic risk score (PRS) provides a promising tool for clinical breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has not been performed.
Methods: We explored the distribution of PRS across European populations using genotype data from 94,072 females without breast cancer diagnosis, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 223,316 females without breast cancer diagnosis from the UK Biobank.
Article Synopsis
- Carriers of BRCA1/2 pathogenic variants were studied to determine their risk of developing cancers during childhood, adolescence, and young adulthood (CAYA).
- Analysis of data from over 47,000 individuals revealed that while young women with BRCA1/2 mutations had a significantly increased risk of breast cancer in their 20s, no increased risk was found for other types of CAYA cancers.
- The study concluded that there's little evidence to support routine genetic testing for children of BRCA1/2 carriers or for young cancer patients, as the overall cancer risk appears low aside from breast cancer in young women.
Importance: Testing for homologous recombination deficiency is required for the optimal treatment of high-grade epithelial ovarian cancer. The search for accurate biomarkers is ongoing.
Objective: To investigate whether progression-free survival (PFS) and overall survival (OS) of patients with high-grade epithelial ovarian cancer treated with maintenance olaparib or placebo differed between patients with a tumor BRCA-like genomic profile and patients without a tumor BRCA-like profile.
Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature stop codon (p.
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