Mervi Aavikko
A5063496761- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Colorectal Cancer Treatments and Studies
- Genetic Associations and Epidemiology
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- BRCA gene mutations in cancer
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Genomics and Rare Diseases
- Lymphoma Diagnosis and Treatment
- Uterine Myomas and Treatments
- Viral-associated cancers and disorders
- Colorectal Cancer Screening and Detection
- Endometriosis Research and Treatment
- Immune Cell Function and Interaction
- Ubiquitin and proteasome pathways
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Nutrition, Genetics, and Disease
- Cancer-related molecular mechanisms research
- Neuroendocrine Tumor Research Advances
- Lung Cancer Research Studies
- Epigenetics and DNA Methylation
- Ovarian cancer diagnosis and treatment
- Sleep and related disorders
- Pregnancy and preeclampsia studies
University of Helsinki
2016-2025
Institute for Molecular Medicine Finland
2020-2025
Finnish Cancer Registry
2019
Reaction Biology (Germany)
2014
Medical Genetics Center
2013
Finnish Institute of Occupational Health
2007-2012
Abstract Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These survived the founding bottleneck rather than being distributed over large ultrarare variants. Although this effect is well established Mendelian genetics, its value common disease genetics less explored 1,2 . FinnGen aims to study genome and national health register data...
Uterine leiomyomas, or fibroids, are benign tumors that affect millions of women worldwide and can cause considerable morbidity. To study the genetic basis this tumor type, we examined 18 uterine leiomyomas derived from 17 different patients by exome sequencing identified tumor-specific mutations in mediator complex subunit 12 (MED12) gene 10. Through analysis 207 additional tumors, determined MED12 is altered 70% (159 225) a total 80 patients. The Mediator 26-subunit transcriptional...
ABSTRACT Population isolates such as Finland provide benefits in genetic studies because the allelic spectrum of damaging alleles any gene is often concentrated on a small number low-frequency variants (0.1% ≤ minor allele frequency < 5%), which survived founding bottleneck, opposed to being distributed over much larger ultra--rare variants. While this advantage well-- established Mendelian genetics, its value common disease genetics has been less explored. FinnGen aims study genome and...
Uterine leiomyomas are common benign smooth muscle tumors that impose a major burden on women's health. Recent sequencing studies have revealed recurrent and mutually exclusive mutations in leiomyomas, suggesting the involvement of molecularly distinct pathways. In this study, we explored transcriptional differences among harboring different genetic drivers, including high mobility group AT-hook 2 (HMGA2) rearrangements, mediator complex subunit 12 (MED12) mutations, biallelic inactivation...
Background & AimsInflammatory bowel disease (IBD) is a chronic, relapsing inflammatory disorder associated with an elevated risk of colorectal cancer (CRC). IBD-associated CRC (IBD-CRC) may represent distinct pathway tumorigenesis compared to sporadic (sCRC). Our aim was comprehensively characterize integrating multiple high-throughput approaches, and compare the results in-house data sets from sCRCs.MethodsWhole-genome sequencing, single nucleotide polymorphism arrays, RNA genome-wide...
Somatic mutations in exon 2 of the RNA polymerase II transcriptional Mediator subunit MED12 occur at very high frequency (∼70%) uterine leiomyomas. However, influence these on function and molecular basis for their tumorigenic potential remain unknown. To clarify impact mutations, we used affinity-purification mass spectrometry to establish global protein-protein interaction profiles both wild-type mutant MED12. We found that leiomyoma-linked led a highly specific decrease its association...
Abstract Polygenic risk scores (PRS) for breast cancer have potential to improve prediction, but there is limited information on their utility in various clinical situations. Here we show that among 122,978 women the FinnGen study with 8401 cases, PRS modifies of two high-impact frameshift variants. Similarly, after diagnosis, individuals elevated an developing contralateral cancer, and can considerably assessment female first-degree relatives. In more detail, c.1592delT variant PALB2...
SummaryKaposi sarcoma (KS), an angioproliferative disease associated with Kaposi herpesvirus (KSHV) infection, harbors a diversity of cell types ranging from endothelial to mesenchymal cells unclear origin. We developed three-dimensional model for KSHV infection and used it demonstrate that induces transcriptional reprogramming lymphatic via endothelial-to-mesenchymal transition (EndMT). KSHV-induced EndMT was initiated by the viral proteins vFLIP vGPCR through Notch pathway activation,...
Uterine leiomyosarcomas (ULMSs) are aggressive smooth muscle tumors associated with poor clinical outcome. Despite previous cytogenetic and molecular studies, their background has remained elusive. To examine somatic variation in ULMS, we performed exome sequencing on 19 tumors. Altogether, 43 genes were mutated at least two ULMSs. Most frequently included tumor protein P53 (TP53; 6/19; 33%), alpha thalassemia/mental retardation syndrome X-linked (ATRX; 5/19; 26%), mediator complex subunit...
Abstract Clonal hematopoiesis driven by somatic heterozygous TET2 loss is linked to malignant degeneration via consequent aberrant DNA methylation, and possibly cardiovascular disease increased cytokine chemokine expression as reported in mice. Here, we discover a germline mutation lymphoma family. We observe neither unusual predisposition atherosclerosis nor abnormal pro-inflammatory or expression. The latter finding confirmed cells from three additional unrelated carriers. defect elevates...
Abstract Genomic instability pathways in colorectal cancer (CRC) have been extensively studied, but the role of retrotransposition carcinogenesis remains poorly understood. Although retrotransposons are usually repressed, they become active several human cancers, particular those gastrointestinal tract. Here we characterize retrotransposon insertions 202 tumor whole genomes and investigate their associations with molecular clinical characteristics. We find highly variable activity among...
Abstract Oncogenic codon V600E mutations of the BRAF gene affect 10–15% colorectal cancers, resulting in activation MAPK/ERK signaling pathway and increased cell proliferation survival. BRAF- mutated tumors are often microsatellite unstable characterized by high DNA methylation levels. However, mechanistic link between hypermethylation remains controversial. Understanding this link, particularly stable is great interest as these show poor We metabolomic, epigenetic transcriptomic patterns...
Point mutations in cancer have been extensively studied but chromosomal gains and losses more challenging to interpret due their unspecific nature. Here we examine high-resolution allelic imbalance (AI) landscape 1699 colorectal cancers, 256 of which whole-genome sequenced (WGSed). The imbalances pinpoint 38 genes as plausible AI targets based on previous knowledge. Unbiased CRISPR-Cas9 knockout activation screens identified total 79 within peaks regulating cell growth. Genetic functional...
Background. Classic Kaposi sarcoma (cKS) is an inflammatory tumor caused by human herpesvirus 8 (HHV-8) commonly observed in elderly men of Mediterranean origin. We studied a Finnish family 5 affected individuals 2 generations. Except for atypical mycobacterial infection the index case, did not have notable histories infection.
Esophageal cancer is common worldwide, and often fatal. The major histological subtype esophageal squamous cell carcinoma (ESCC). ESCC shows familial aggregation high heritability. Mutations in RHBDF2 cause tylosis, a very rare disorder characterized by life-time risk of ESCC, but no other well-established predisposition genes have been identified. To identify candidate susceptibility variants for we utilized the Population Information System Finnish registry to find study materials...
Exposure to asbestos is known induce lung cancer, and our previous studies have suggested that specific chromosomal regions, such as 19p13, are preferentially aberrant in tumours of asbestos-exposed patients. Here, we further examined the association between 19p region exposure using array comparative genomic hybridization fluorescence situ (FISH) FISH characterization asbestos-induced micronuclei (MN) human bronchial epithelial BEAS 2B cells vitro. We detected an increased number losses...
Five to seven percent of lung tumours are estimated occur because occupational asbestos exposure. Using cDNA microarrays, we have earlier detected exposure-related genomic regions in cancer. The region at 2p was one those that differed most between asbestos-exposed and non-exposed patients. Now, evaluated alterations 2p22.1-p16.1 as a possible marker for Lung from 205 patients with pulmonary fibre counts 0 570 million fibres per gram dry lung, were studied by fluorescence situ hybridisation...