Kathleen Claes
A5028526077- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- DNA Repair Mechanisms
- CRISPR and Genetic Engineering
- Ovarian cancer diagnosis and treatment
- Nutrition, Genetics, and Disease
- Genetic factors in colorectal cancer
- Genetic Associations and Epidemiology
- Molecular Biology Techniques and Applications
- Neurofibromatosis and Schwannoma Cases
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics, Bioinformatics, and Biomedical Research
- Soft tissue tumors and treatment
- Carcinogens and Genotoxicity Assessment
- Lung Cancer Treatments and Mutations
- Renal Transplantation Outcomes and Treatments
- Cholangiocarcinoma and Gallbladder Cancer Studies
- RNA modifications and cancer
- Genomics and Chromatin Dynamics
- RNA Research and Splicing
- Soft tissue tumor case studies
- Pancreatic and Hepatic Oncology Research
- Colorectal Cancer Treatments and Studies
- Epigenetics and DNA Methylation
Ghent University
2015-2025
Ghent University Hospital
2016-2025
Cancer Research Institute Ghent
2017-2025
Universitair Ziekenhuis Leuven
2014-2024
Uppsala University
2024
Czech Academy of Sciences
2023
Czech Academy of Sciences, Institute of Molecular Genetics
2023
National Cancer Centre Singapore
2023
Charles University
2023
General University Hospital in Prague
2023
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with 1,839 cancer), replication in an additional sample 2,646 carriers. We identified novel risk modifier locus at 1q32 for (rs2290854, P = 2.7×10−8, HR 1.14, 95% CI: 1.09–1.20). In addition, two loci: 17q21.31 (rs17631303, 1.4×10−8, 1.27, 1.17–1.38) 4q32.3 (rs4691139,...
PURPOSE To estimate age-specific relative and absolute cancer risks of breast to ovarian, pancreatic, male breast, prostate, colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these have not been extensively characterized. METHODS We analyzed data from 524 families PVs 21 countries. Complex segregation analysis was used (RRs; country-specific population incidences) cancers. The models allowed for residual familial aggregation ovarian were adjusted the...
The prevalence and spectrum of germline mutations in BRCA1 BRCA2 have been reported single populations, with the majority reports focused on White Europe North America. Consortium Investigators Modifiers BRCA1/2 (CIMBA) has assembled data 18,435 families 11,351 ascertained from 69 centers 49 countries six continents. This study comprehensively describes characteristics 1,650 unique 1,731 deleterious (disease-associated) identified CIMBA database. We observed substantial variation mutation...
The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some these are with breast risk as high those rare BRCA2 mutations. We aimed the relative risks specific variants via a multicentre case-control study.
Neurofibromatosis type 1 (NF1), a common genetic disorder with birth incidence of 1:2,000–3,000, is characterized by highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and single amino acid deletion p.Met922del. Both variants predispose to distinct mild phenotype neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here, we report...
Abstract The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of for BRCA1 or BRCA2 mutation carriers. We evaluated the associations 3 additional single nucleotide (SNPs), rs4973768 SLC4A7/NEK10, rs6504950 STXBP4/COX11, rs10941679 at 5p12, reanalyzed previous using carriers a sample 12,525 7,409 Additionally, we investigated potential interactions between SNPs assessed implications risk prediction. minor alleles were...
Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification genotype-phenotype correlations challenging because wide range clinical variability, progressive nature disorder, and extreme diversity mutational spectrum. We report 136 individuals with a distinct phenotype carrying five different NF1 missense mutations p.Arg1809. Patients presented multiple café-au-lait macules (CALM) or without freckling Lisch nodules, but no...
Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify risks for female carriers mutations. We investigated—for first time to our knowledge—associations common with male BRCA1/ 2 implications prediction. Materials Methods genotyped 1,802 from Consortium Investigators Modifiers by using custom Illumina OncoArray. investigated combined effects established susceptibility on constructing weighted polygenic scores (PRSs) published effect...
Whether influenza vaccination in solid-organ transplant recipients is efficacious remains a controversial issue. Furthermore, theoretical concerns have been raised regarding the safety of as it might trigger rejection allograft. The present prospective trial aimed at investigating antibody response and renal (RTR).A total 165 RTR 41 healthy volunteers were vaccinated with standard trivalent inactivated vaccine. Hemagglutination-inhibiting (HI) antibodies quantified before 1 month after...
Neurofibromatosis type 1 (NF1) is a common disorder that arises secondary to mutations in the tumor suppressor gene NF1. Glomus tumors are small, benign but painful originate from glomus body, thermoregulatory shunt concentrated fingers and toes. We report 11 individuals with NF1 who harbored 20 of toe; 5 had multiple tumors. hypothesized biallelic inactivation underlies pathogenesis these In 12 NF1-associated tumors, we used cell culture laser capture microdissection isolate DNA. also...
Abstract Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood spleen. Using expression quantitative trait loci (eQTL) reported these identify 26 previously unreported, likely target genes of overall risk variants, 17 for estrogen receptor (ER)-negative cancer, several with a known function. We...
Derangements in bone metabolism and vascular calcification (VC) substantially contribute to the accelerated cardiovascular morbidity mortality chronic kidney disease (CKD). The Wnt signalling pathway is increasingly recognized play an important role homeostasis VC. Circulating levels of inhibitor sclerostin are elevated CKD patients. present study investigated whether circulating associated with all-cause haemodialysis (HD) patients.We performed a post-hoc survival analysis 100 prevalent HD...
Abstract Quantifying the genetic correlation between cancers can provide important insights into mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six types based on a total of 296,215 cases and 301,319 controls European ancestry, here we estimate pair-wise correlations breast, colorectal, head/neck, lung, ovary prostate cancer, 38 other diseases. We observed statistically significant lung head/neck ( r g = 0.57, p 4.6 × 10 −8 ), breast ovarian...
BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity data exists on the pathology cancers (BCs) in men BRCA1/2 mutations. Using largest available dataset, we determined whether MBCs arising mutation carriers display specific pathologic features and these differ from those female BCs (FBCs). We characterised 419 using logistic regression analysis, contrasted 9675 FBCs population-based 6351 Surveillance, Epidemiology,...
We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with risks BRCA1 and BRCA2 pathogenic variant carriers. Retrospective cohort data on 18,935 12,339 female carriers of European ancestry were available. Three versions a 313 single-nucleotide polymorphism (SNP) BC PRS evaluated based whether they predict overall, estrogen receptor (ER)-negative, ER-positive BC, two overall high-grade serous EOC. Associations...
Abstract Common variants in 94 loci have been associated with breast cancer including 15 genome-wide significant associations ( P <5 × 10 −8 ) oestrogen receptor (ER)-negative and BRCA1 -associated risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 association studies (GWAS) consisting 4,939 cases 14,352 controls, combined 7,333 42,468 controls 15,252 mutation carriers genotyped on the iCOGS array. We four previously unidentified two...