A5001339020- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Nutrition, Genetics, and Disease
- Cancer Genomics and Diagnostics
- Ovarian cancer diagnosis and treatment
- Genomic variations and chromosomal abnormalities
- Colorectal Cancer Screening and Detection
- DNA Repair Mechanisms
- Genomics and Rare Diseases
- Cytomegalovirus and herpesvirus research
- Genetic Associations and Epidemiology
- CRISPR and Genetic Engineering
- Genetics, Bioinformatics, and Biomedical Research
- Allergic Rhinitis and Sensitization
- Blood Coagulation and Thrombosis Mechanisms
- Contact Dermatitis and Allergies
- Prenatal Screening and Diagnostics
- Renal Transplantation Outcomes and Treatments
- Global Cancer Incidence and Screening
- Venous Thromboembolism Diagnosis and Management
- Soil Carbon and Nitrogen Dynamics
- Horticultural and Viticultural Research
- Fermentation and Sensory Analysis
- Cancer Risks and Factors
- Public Health in Brazil
Maastricht University
2015-2024
Maastricht University Medical Centre
2013-2024
Instituto de Investigación Biomédica de Salamanca
2024
Centro de Investigación Biomédica en Red de Cáncer
2024
Universidad de Murcia
2023
Instituto Politécnico Nacional
2023
Dublin City University
2023
Durham University
2023
Cancer Research Center
2009-2021
University of Manchester
2021
Genetic testing for breast cancer susceptibility is widely used, but many genes, evidence of an association with weak, underlying risk estimates are imprecise, and reliable subtype-specific lacking.
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,...
Germline mutations in MSH6 account for 10%–20% of Lynch syndrome colorectal cancers caused by hereditary DNA mismatch repair gene mutations. Because there have been only a few studies mutation carriers, their cancer risks are uncertain. We identified 113 families carriers from five countries that we ascertained through family clinics and population-based registries. Mutation status, sex, age, histories cancer, polypectomy, hysterectomy were sought 3104 relatives. Age-specific cumulative...
Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest-derived neoplasms. Recently we identified germline mutations in a new tumor suppressor susceptibility gene, MAX (MYC-associated factor X), which predisposes carriers to PCC. How contribute PCC/PGL associated phenotypes remain unclear. This study aimed examine the prevalence phenotypic features of somatic PCC/PGL.We sequenced 1,694 patients with PCC or PGL (without other major genes) from 17...
Patients with Lynch syndrome are at high risk for colon and endometrial cancer, but also an elevated other less common cancers. The purpose of this retrospective cohort study was to provide estimates these cancers in proven carriers pathogenic mutations the mismatch repair (MMR) genes MLH1, MSH2, MSH6.Data were pooled from German Dutch national registries. Seven different cancer types analyzed: stomach, small bowel, urinary bladder, urothelial, breast, ovarian, prostate cancer. Age-, sex-...
Previous studies have reported a breast cancer (BC) risk reduction of approximately 50% after risk-reducing salpingo-oophorectomy (RRSO) in BRCA1/2 mutation carriers, but may been subject to several types bias. The purpose this nationwide cohort study was assess potential bias the estimated BC RRSO.We selected carriers from an ongoing on Hereditary Breast and Ovarian Cancer Netherlands (HEBON). First, we replicated analytical methods as previously applied four major RRSO. Cox proportional...
Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal endometrial cancer, although extracolonic cancers have been described within tumor spectrum. However, age-specific cumulative risk (penetrance) of these still poorly defined for PMS2-associated syndrome. Using a large data set from worldwide collaboration, our aim was determine accurate penetrance measures carriers heterozygous PMS2 variants.
Letters| December 11 2008 Diagnosis of Cytomegalovirus Infections Subject Area: Nephrology S. Aguado; Aguado Departments and Microbiology, Hospital Covadonga, Oviedo, Spain Search for other works by this author on: This Site PubMed Google Scholar E. Gómez; Gómez Melón; Melón M. de Oña; Oña A. Martínez; Martínez J. Alvarez-Grande Nephron (1991) 57 (1): 116. https://doi.org/10.1159/000186231 Article history Published Online: Content Tools Views Icon contents Figures & tables Video Audio...
Background and Purpose— Elevated von Willebrand factor (vWF) concentrations are associated with an increased risk of ischemic heart disease. Several factors influence vWF antigen levels activity, including blood group, genetic variability, acute-phase response, proteolysis by A D isintegrin a nd M etalloprotease T hrombo S pondin motif (ADAMTS13), determinant proteolytic cleavage vWF. We assessed how these affect the relation between occurrence stroke to understand underlying mechanism....
Purpose The clinical consequences of PMS2 germline mutations are poorly understood compared with other Lynch-associated mismatch repair gene (MMR) mutations. aim this European cohort study was to define the cancer risk faced by mutation carriers. Methods Data were collected from 98 families ascertained family clinics that included a total 2,548 members and 377 proven To adjust for potential ascertainment bias, modified segregation analysis model used calculate colorectal (CRC) endometrial...
Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in the A-T mutated (ATM) gene. To study genotype–phenotype correlations, we evaluated clinical laboratory data of 51 genetically proven patients, additionally measured ATM protein expression kinase activity. Patients without activity showed classical phenotype. The presence protein, correlated slightly better immunological function....
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity multiple cancer syndrome genes. Independent data types currently incorporated in the model assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability based on location bioinformatic prediction effect, co-segregation, family history profile, co-occurrence with a pathogenic same gene, breast tumor pathology, case-control information. Research...
Many suspected Lynch Syndrome (sLS) patients who lack mismatch repair (MMR) germline gene variants and MLH1 or MSH2 hypermethylation are currently explained by somatic MMR or, occasionally, POLE variants. To further investigate unexplained sLS patients, we analyzed leukocyte tumor DNA of 62 using panel sequencing including the POLE, POLD1 genes. Forty tumors showed either one, two more predicted to affect function. Nine a likely ultramutated phenotype were found carry (n=2) (n=7) in...
Abstract Introduction Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these different subtypes in and carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. Methods We used genotype data on up to 11,421 7,080 carriers, whom 4,310 had been affected information either ER PR tumour, assess associations 12 loci tumour...
Endometrial cancer (EC) risk in BReast CAncer gene 1/2 (BRCA1/2) mutation carriers is uncertain; therefore, we assessed this a large Dutch nationwide cohort study.
In severe asthma bronchial epithelial cells are damaged and detached, it has been proposed that such damage might lead to the hyperresponsiveness characterises asthma. To investigate relation between airway damage, biopsy specimens of mucus membrane were obtained at fibreoptic bronchoscopy from 11 patients with mild atopic (provocative concentration methacholine causing a 20% fall in FEV1 (PC20) less than 1.0 mg/ml), 17 healthy non-atopic subjects who did not have (PC20 greater 8.0 mg/ml)....
Li-Fraumeni syndrome (LFS) is a hereditary cancer syndrome, characterized by high risk of developing at various sites and ages. To date, limited clinical benefits genetic testing for LFS have been demonstrated, there are concerns about the potential adverse psychosocial impact LFS. In this study, we evaluated uptake undergoing or not test LFS.In total, 18 families with p53 germline mutation in Netherlands were identified. Eligible family members invited to complete self-report questionnaire...