@article{12115,
  author       = {Glajzer, Jacek and Castillo-Tong, Dan Cacsire and Richter, Rolf and Vergote, Ignace and Kulbe, Hagen and Vanderstichele, Adriaan and Ruscito, Ilary and Trillsch, Fabian and Mustea, Alexander and Kreuzinger, Caroline and Gourley, Charlie and Gabra, Hani and Taube, Eliane T. and Dorigo, Oliver and Horst, David and Keunecke, Carlotta and Baum, Joanna and Angelotti, Timothy and Sehouli, Jalid and Braicu, Elena Ioana},
  issn         = {1534-4681},
  journal      = {Annals of Surgical Oncology},
  keywords     = {Oncology, Surgery},
  pages        = {46--47},
  publisher    = {Springer Nature},
  title        = {{ASO Visual Abstract: Impact of BRCA mutation status on tumor dissemination pattern, surgical outcome, and patient survival in primary and recurrent high-grade serous ovarian cancer (HGSOC). A multicenter, retrospective study of the ovarian cancer therapy—innovative models prolong survival (OCTIPS) consortium}},
  doi          = {10.1245/s10434-022-12681-z},
  volume       = {30},
  year         = {2023},
}

@article{12205,
  abstract     = {Background: This study seeks to evaluate the impact of breast cancer (BRCA) gene status on tumor dissemination pattern, surgical outcome and survival in a multicenter cohort of paired primary ovarian cancer (pOC) and recurrent ovarian cancer (rOC).

Patients and Methods: Medical records and follow-up data from 190 patients were gathered retrospectively. All patients had surgery at pOC and at least one further rOC surgery at four European high-volume centers. Patients were divided into one cohort with confirmed mutation for BRCA1 and/or BRCA2 (BRCAmut) and a second cohort with BRCA wild type or unknown (BRCAwt). Patterns of tumor presentation, surgical outcome and survival data were analyzed between the two groups.

Results: Patients with BRCAmut disease were on average 4 years younger and had significantly more tumor involvement upon diagnosis. Patients with BRCAmut disease showed higher debulking rates at all stages. Multivariate analysis showed that only patient age had significant predictive value for complete tumor resection in pOC. At rOC, however, only BRCAmut status significantly correlated with optimal debulking. Patients with BRCAmut disease showed significantly prolonged overall survival (OS) by 24.3 months. Progression-free survival (PFS) was prolonged in the BRCAmut group at all stages as well, reaching statistical significance during recurrence.

Conclusions: Patients with BRCAmut disease showed a more aggressive course of disease with earlier onset and more extensive tumor dissemination at pOC. However, surgical outcome and OS were significantly better in patients with BRCAmut disease compared with patients with BRCAwt disease. We therefore propose to consider BRCAmut status in regard to patient selection for cytoreductive surgery, especially in rOC.},
  author       = {Glajzer, Jacek and Castillo-Tong, Dan Cacsire and Richter, Rolf and Vergote, Ignace and Kulbe, Hagen and Vanderstichele, Adriaan and Ruscito, Ilary and Trillsch, Fabian and Mustea, Alexander and Kreuzinger, Caroline and Gourley, Charlie and Gabra, Hani and Taube, Eliane T. and Dorigo, Oliver and Horst, David and Keunecke, Carlotta and Baum, Joanna and Angelotti, Timothy and Sehouli, Jalid and Braicu, Elena Ioana},
  issn         = {1534-4681},
  journal      = {Annals of Surgical Oncology},
  keywords     = {Oncology, Surgery},
  pages        = {35--45},
  publisher    = {Springer Nature},
  title        = {{Impact of BRCA mutation status on tumor dissemination pattern, surgical outcome and patient survival in primary and recurrent high-grade serous ovarian cancer: A multicenter retrospective study by the Ovarian Cancer Therapy-Innovative Models Prolong Survival (OCTIPS) consortium}},
  doi          = {10.1245/s10434-022-12459-3},
  volume       = {30},
  year         = {2023},
}

@article{9429,
  abstract     = {De novo loss of function mutations in the ubiquitin ligase-encoding gene Cullin3 lead to autism spectrum disorder (ASD). In mouse, constitutive haploinsufficiency leads to motor coordination deficits as well as ASD-relevant social and cognitive impairments. However, induction of Cul3 haploinsufficiency later in life does not lead to ASD-relevant behaviors, pointing to an important role of Cul3 during a critical developmental window. Here we show that Cul3 is essential to regulate neuronal migration and, therefore, constitutive Cul3 heterozygous mutant mice display cortical lamination abnormalities. At the molecular level, we found that Cul3 controls neuronal migration by tightly regulating the amount of Plastin3 (Pls3), a previously unrecognized player of neural migration. Furthermore, we found that Pls3 cell-autonomously regulates cell migration by regulating actin cytoskeleton organization, and its levels are inversely proportional to neural migration speed. Finally, we provide evidence that cellular phenotypes associated with autism-linked gene haploinsufficiency can be rescued by transcriptional activation of the intact allele in vitro, offering a proof of concept for a potential therapeutic approach for ASDs.},
  author       = {Morandell, Jasmin and Schwarz, Lena A and Basilico, Bernadette and Tasciyan, Saren and Dimchev, Georgi A and Nicolas, Armel and Sommer, Christoph M and Kreuzinger, Caroline and Dotter, Christoph and Knaus, Lisa and Dobler, Zoe and Cacci, Emanuele and Schur, Florian KM and Danzl, Johann G and Novarino, Gaia},
  issn         = {2041-1723},
  journal      = {Nature Communications},
  keywords     = {General Biochemistry, Genetics and Molecular Biology},
  number       = {1},
  publisher    = {Springer Nature},
  title        = {{Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development}},
  doi          = {10.1038/s41467-021-23123-x},
  volume       = {12},
  year         = {2021},
}

@unpublished{7800,
  abstract     = {De novo loss of function mutations in the ubiquitin ligase-encoding gene Cullin3 (CUL3) lead to autism spectrum disorder (ASD). Here, we used Cul3 mouse models to evaluate the consequences of Cul3 mutations in vivo. Our results show that Cul3 haploinsufficient mice exhibit deficits in motor coordination as well as ASD-relevant social and cognitive impairments. Cul3 mutant brain displays cortical lamination abnormalities due to defective neuronal migration and reduced numbers of excitatory and inhibitory neurons. In line with the observed abnormal columnar organization, Cul3 haploinsufficiency is associated with decreased spontaneous excitatory and inhibitory activity in the cortex. At the molecular level, employing a quantitative proteomic approach, we show that Cul3 regulates cytoskeletal and adhesion protein abundance in mouse embryos. Abnormal regulation of cytoskeletal proteins in Cul3 mutant neuronal cells results in atypical organization of the actin mesh at the cell leading edge, likely causing the observed migration deficits. In contrast to these important functions early in development, Cul3 deficiency appears less relevant at adult stages. In fact, induction of Cul3 haploinsufficiency in adult mice does not result in the behavioral defects observed in constitutive Cul3 haploinsufficient animals. Taken together, our data indicate that Cul3 has a critical role in the regulation of cytoskeletal proteins and neuronal migration and that ASD-associated defects and behavioral abnormalities are primarily due to Cul3 functions at early developmental stages.},
  author       = {Morandell, Jasmin and Schwarz, Lena A and Basilico, Bernadette and Tasciyan, Saren and Nicolas, Armel and Sommer, Christoph M and Kreuzinger, Caroline and Knaus, Lisa and Dobler, Zoe and Cacci, Emanuele and Danzl, Johann G and Novarino, Gaia},
  booktitle    = {bioRxiv},
  publisher    = {Cold Spring Harbor Laboratory},
  title        = {{Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development}},
  doi          = {10.1101/2020.01.10.902064 },
  year         = {2020},
}