- Genetic factors in colorectal cancer
- Cancer-related molecular mechanisms research
- Epigenetics and DNA Methylation
- Cancer Genomics and Diagnostics
- RNA Research and Splicing
- Ovarian cancer diagnosis and treatment
- Lymphoma Diagnosis and Treatment
- Genomics and Rare Diseases
- Hippo pathway signaling and YAP/TAZ
- RNA modifications and cancer
- Wnt/β-catenin signaling in development and cancer
- BRCA gene mutations in cancer
- Digestive system and related health
- Kruppel-like factors research
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- DNA Repair Mechanisms
Blueprint Genetics (Finland)
2021-2024
University of Helsinki
2013-2018
Ovarian carcinoma in Lynch syndrome (LS) is associated with unexpectedly high survival; yet, beyond DNA mismatch repair (MMR) defects, the developmental mechanisms are unknown. We used established (genetic) and new (epigenetic) classifiers of ovarian cancer to explore similarities differences between LS-associated sporadic diseases. To this end, all available carcinomas (n = 20) from MMR gene mutation carriers ascertained through a nation-wide registry 87 main histological types were...
Diagnosis and treatment of epithelial ovarian cancer is challenging due to the poor understanding pathogenesis disease. Our aim was investigate epigenetic mechanisms in tumorigenesis and, especially, whether tumors with different histological subtypes or hereditary background (Lynch syndrome) exhibit differential susceptibility inactivation growth regulatory genes. Gene candidates for regulation were identified from literature by expression profiling endometrial cell lines treated...
ObjectiveThe diagnosis of carcinoma in both the uterus and ovary simultaneously is not uncommon raises question synchronous primaries vs. metastatic disease. Targeted sequencing sporadic endometrial ovarian carcinomas has shown that such tumors are clonally related thus represent disease from one site to other. Our purpose was investigate whether or same applies Lynch syndrome (LS), which cancers gynecological tract twice as frequent cases, reflecting inherited defects DNA mismatch repair...
All colorectal cancer cell lines except RKO displayed active β -catenin/TCF regulated transcription. This feature of was noted in familial colon cancers; hence our aim to dissect its carcinogenic mechanism. MFISH and CGH revealed distinct instability chromosome structure RKO. Gene expression microarray versus 7 (with Wnt signaling) 3 normal specimens 611 differentially expressed genes. The majority the tested gene loci were susceptible LOH primary tumors with various -catenin localizations...
While cancer phenotypes in carriers of a single mutant allele most major susceptibility genes are well-established, there is paucity data on the phenotype two pathogenic variants-double heterozygotes (DH) or homozygous carriers. Here, we describe and DH sequence variants (PSVs) genes.
Abstract Epithelial ovarian cancer is a heterogeneous group of cancers, and molecular tools are urgently needed for better understanding targeted management this often lethal disease. Since epigenetic methods can offer new the cancer, our aim was to investigate mechanisms in tumorigenesis representing different histological types. Expression profiling endometrial cell lines treated with demethylating agents as well literature were used select gene candidates regulation. A...