Maija Suvanto
A5000034075- BRCA gene mutations in cancer
- Renal Diseases and Glomerulopathies
- Genomics and Rare Diseases
- Genetic Associations and Epidemiology
- Celiac Disease Research and Management
- Genetic factors in colorectal cancer
- Nutrition, Genetics, and Disease
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Cancer-related molecular mechanisms research
- Genomics and Chromatin Dynamics
- RNA modifications and cancer
- DNA Repair Mechanisms
- Chronic Lymphocytic Leukemia Research
- Genomic variations and chromosomal abnormalities
- Biomedical Research and Pathophysiology
- Apelin-related biomedical research
- Lipid metabolism and disorders
- Autoimmune Bullous Skin Diseases
- RNA Research and Splicing
- Genetic and Kidney Cyst Diseases
- Chronic Kidney Disease and Diabetes
- Genetic Syndromes and Imprinting
- Abdominal vascular conditions and treatments
- Macrophage Migration Inhibitory Factor
- Cancer Genomics and Diagnostics
University of Helsinki
2005-2023
Helsinki University Hospital
2014-2023
University of Manchester
2021
St Mary's Hospital
2021
Edinburgh Cancer Research
2021
Cancer Research Center
2021
Children's Hospital
2016
Helsinki Children's Hospital
2007
Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks missense these genes uncertain. We analyzed data on 59,639 cases 53,165 controls from studies participating the Breast Cancer Association Consortium BRIDGES project. sampled training (80%) validation (20%) sets to analyze rare ATM (1146 variants), BRCA1 (644), BRCA2 (1425), CHEK2 (325), (472). evaluated according five silico prediction-of-deleteriousness algorithms,...
Abstract Several known breast cancer susceptibility genes encode proteins involved in DNA damage response (DDR) and are characterized by rare loss-of-function mutations. However, these explain less than half of the familial cases. To identify novel factors, 39 truncating mutations, identified 189 Northern Finnish hereditary patients parallel sequencing 796 DDR genes, were studied for disease association. Mutation screening was performed cases (n = 578–1565) controls 337–1228). Mutations...
Long non-coding RNAs (lncRNAs) play crucial roles in human physiology, and have been found to be associated with various cancers. Transcribed ultraconserved regions (T-UCRs) are a subgroup of lncRNAs conserved several species, often located cancer-related regions. Breast cancer is the most common women worldwide leading cause female deaths. We investigated association genetic variants lncRNA T-UCR breast risk uncover candidate loci for further analysis. Our focus was on low-penetrance that...
Polymorphic variants in several molecules involved the glomerular function and drug metabolism have been implicated pathophysiology of pediatric idiopathic nephrotic syndrome (INS), but results remain inconsistent. We analyzed association eleven allelic eight genes (angiopoietin-like 4 (ANGPTL4), glypican 5 (GPC5), interleukin-13 (IL-13), macrophage migration inhibitory factor (MIF), neural nitric oxide synthetase (nNOS), multidrug resistance-1 (MDR1), glucocorticoid-induced transcript-1...
Abstract We assessed the PREDICT v 2.2 for prognosis of breast cancer patients with pathogenic germline BRCA1 and BRCA2 variants, using follow-up data from 5453 BRCA1/2 carriers Consortium Investigators Modifiers (CIMBA) Breast Cancer Association (BCAC). estrogen receptor (ER)-negative had modest discrimination carrier overall (Gönen & Heller unbiased concordance 0.65 in CIMBA, 0.64 BCAC), but it distinguished clearly high-mortality group lower risk categories. In an analysis low to high...
Recurrent pathogenic variants have been detected in several breast and ovarian cancer (BC/OC) risk genes the Finnish population. We conducted a gene-panel sequencing copy number variant (CNV) analysis to define more comprehensive spectrum of BRCA1, BRCA2, PALB2, CHEK2, ATM, BARD1, RAD51C, RAD51D, BRIP1, FANCM BC patients. The combined frequency BRCA1/2 was 1.8% 1356 unselected patients, whereas other were altogether 8.3% patients 12.9% 699 familial CNVs 0.3% both 1137 612 A few covered most...
Abstract We assessed the PREDICT v 2.2 for prognosis of breast cancer patients with pathogenic germline BRCA1 and BRCA2 variants, using follow-up data from 5453 BRCA1/2 carriers Consortium Investigators Modifiers (CIMBA) Breast Cancer Association (BCAC). estrogen receptor (ER)-negative had modest discrimination carrier overall (Gönen & Heller unbiased concordance 0.65 in CIMBA, 0.64 BCAC), but it distinguished clearly high-mortality group lower risk categories. In an analysis low to high...
Abstract BACKGROUND Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2 and PALB2 are associated with increased breast cancer risk, but risks missense these genes uncertain. METHODS Combining 59,639 cases 53,165 controls, we sampled training (80%) validation (20%) sets to analyze rare ATM (1,146 variants), BRCA1 (644), BRCA2 (1,425), (325) (472). We evaluated according five in-silico prediction-of-deleteriousness algorithms, functional protein domain, frequency, using logistic regression...