A5064183750- Genetic factors in colorectal cancer
- Acute Myeloid Leukemia Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- BRCA gene mutations in cancer
- Nutrition, Genetics, and Disease
- Chronic Myeloid Leukemia Treatments
- Cancer Genomics and Diagnostics
- Lymphoma Diagnosis and Treatment
- Kruppel-like factors research
- DNA Repair Mechanisms
- bioluminescence and chemiluminescence research
- Genetic Associations and Epidemiology
- Acute Lymphoblastic Leukemia research
- Nutritional Studies and Diet
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Cancer-related Molecular Pathways
- RNA modifications and cancer
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Chronic Lymphocytic Leukemia Research
- Chromosomal and Genetic Variations
- Eosinophilic Disorders and Syndromes
- Epigenetics and DNA Methylation
- Estrogen and related hormone effects
- Hemoglobinopathies and Related Disorders
University of Helsinki
2014-2024
Helsinki University Hospital
2006-2024
Cancer Society of Finland
2024
Hospital District of Helsinki and Uusimaa
2024
Genomics (United Kingdom)
2019-2022
Memorial Sloan Kettering Cancer Center
2008-2019
Tampere University Hospital
2013
Fimlab (Finland)
2013
University of Washington Medical Center
2013
Tampere University
2013
Uterine leiomyomas are benign but affect the health of millions women. A better understanding molecular mechanisms involved may provide clues to prevention and treatment these lesions.We performed whole-genome sequencing gene-expression profiling 38 uterine corresponding myometrium from 30 women.Identical variants observed in some separate tumor nodules suggested that have a common origin. Complex chromosomal rearrangements resembling chromothripsis were feature leiomyomas. These best...
In a multi-institutional collaborative project, 1473 patients with myeloproliferative neoplasms (MPN) were screened for isocitrate dehydrogenase 1 (IDH1)/IDH2 mutations: 594 essential thrombocythemia (ET), 421 polycythemia vera (PV), 312 primary myelofibrosis (PMF), 95 post-PV/ET MF and 51 blast-phase MPN. A total of 38 IDH mutations (18 IDH1-R132, 19 IDH2-R140 IDH2-R172) detected: 5 (0.8%) ET, 8 (1.9%) PV, 13 (4.2%) PMF, (1%) 11 (21.6%) MPN (P<0.01). Mutant was documented in the presence or...
Breast cancer is a profoundly heterogeneous disease with respect to biologic and clinical behavior. Gene-expression profiling has been used dissect this complexity stratify tumors into intrinsic gene-expression subtypes, associated distinct biology, patient outcome, genomic alterations. Additionally, breast occurring in individuals germline BRCA1 or BRCA2 mutations typically fall subtypes. We applied global DNA copy number 359 tumors. All were classified according subtypes included cases...
ARID1A has been identified as a novel tumor suppressor gene in ovarian cancer and subsequently various other types. belongs to the ARID domain containing family, which comprises of 15 genes involved, for example, transcriptional regulation, proliferation chromatin remodeling. In this study, we used exome sequencing data analyze mutation frequency all 25 microsatellite unstable (MSI) colorectal cancers (CRCs) first systematic effort characterize pattern whole family. Genes fulfilled selection...
Mediator complex participates in transcriptional regulation by connecting regulatory DNA sequences to the RNA polymerase II initiation complex. Recently, we discovered through exome sequencing that as many 70% of uterine leiomyomas harbour specific mutations exon 2 mediator subunit 12 (MED12). In this work, examined role MED12 other tumour types. The frequency was analysed altogether 1158 tumours direct sequencing. spectrum included mesenchymal (extrauterine leiomyomas, endometrial polyps,...
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 Cell cycle checkpoint kinase 2 (CHEK2) is a transducer of cellular responses to DNA damage. The CHEK2 1100delC has previously been shown be low‐penetrance breast cancer susceptibility allele. We have evaluated the role another variant, I157T in FHA domain gene, for association with cancer. was found at significantly higher frequency population‐based series patients (77/1035, 7.4%, odds ratio [OR] = 1.43, 95% confidence interval [CI] 1.06–1.95, p 0.021) than among population controls...
The CHEK2 kinase is a tumor suppressor whose activation in response to DNA double-strand breaks contributes cell cycle arrest or apoptosis. c.1100delC mutation associated with familial breast cancer, and tumors from carriers show reduced absent protein expression. We have here studied expression by immunohistochemistry on tissue microarray of 611 unselected also evaluated the characteristics among 1,297 cancer patients defined for germ line status (2.5% carrier frequency). was 21.1% cancers...
Hereditary factors are presumed to play a role in one third of colorectal cancer (CRC) cases. However, the majority familial CRC cases genetic basis predisposition remains unexplained. This is particularly true for families with few affected individuals. To identify susceptibility genes this common phenotype, we examined derived from consecutive series 1514 Finnish patients. Ninety-six patients no previous diagnosis hereditary syndrome were included analysis. Eighty-six had first-degree...
Abstract Background: A recently identified germline mutation G84E in HOXB13 was shown to increase the risk of prostate cancer. In a family-based analysis by The International Consortium for Prostate Cancer Genetics (ICPCG), most prevalent families from Nordic countries Finland (22.4%) and Sweden (8.2%). Methods: To further investigate importance Finns, we determined its frequency more than 4,000 cancer cases 5,000 controls. addition, 986 breast 442 colorectal (CRC) were studied. Genotyping...
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 Myeloid neoplasms (MNs) with germline predisposition have recently been recognized as novel entities in the latest World Health Organization (WHO) classification for MNs. Individuals MNs due to exhibit increased risk development of MNs, mainly acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Setting diagnosis MN is crucial clinical significance since it may tailor therapy, dictate selection donor allogeneic hematopoietic stem cell transplantation (allo-HSCT),...
Biallelic germline ERCC6L2 variants strongly predispose to bone marrow failure (BMF) and myeloid malignancies characterized by somatic TP53-mutated clones erythroid predominance. We present a series of 52 subjects (35 families) with biallelic collected retrospectively in 11 centers globally, including follow-up 1165 person-years. At initial investigations, 32 individuals were diagnosed BMF 15 hematological malignancy (HM). Subjects presented 19 different across ERCC6L2, we identified founder...
Abstract Purpose: HuR is an mRNA-binding protein that enhances the stability of certain transcripts and can regulate their translation. Elevated cytoplasmic expression has been linked to carcinogenesis associated with reduced survival in breast, ovarian, gastric adenocarcinomas. Experimental Design: Here, we have explored relevance familial breast cancer. Tumor samples were collected from patients identified BRCA1 (n = 51) or BRCA2 47) mutations non-BRCA1/2 cases 525), analyzed by...