Nasim Mavaddat
A5050379859- BRCA gene mutations in cancer
- Global Cancer Incidence and Screening
- Genetic Associations and Epidemiology
- Cancer Genomics and Diagnostics
- Nutrition, Genetics, and Disease
- Radiomics and Machine Learning in Medical Imaging
- Cancer Risks and Factors
- Immune Cell Function and Interaction
- T-cell and B-cell Immunology
- Immunotherapy and Immune Responses
- Gene expression and cancer classification
- Ovarian cancer diagnosis and treatment
- Health Systems, Economic Evaluations, Quality of Life
- CRISPR and Genetic Engineering
- Genetics, Bioinformatics, and Biomedical Research
- Genetic factors in colorectal cancer
- Bioinformatics and Genomic Networks
- Genomic variations and chromosomal abnormalities
- AI in cancer detection
- Breast Cancer Treatment Studies
- Computational Drug Discovery Methods
- Economic Sanctions and International Relations
- RNA Research and Splicing
- Metal complexes synthesis and properties
- Chromatography in Natural Products
University of Cambridge
2016-2025
Weatherford College
2025
MRC Epidemiology Unit
2010-2023
Cancer Research Center
2021-2023
Centro de Investigación del Cáncer
2023
Centre de Recherche en Cancérologie de Lyon
2023
University of Wisconsin–Madison
2022
University of Manchester
2021
St Mary's Hospital
2021
Edinburgh Cancer Research
2021
Stratification of women according to their risk breast cancer based on polygenic scores (PRSs) could improve screening and prevention strategies. Our aim was develop PRSs, optimized for prediction estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset empirically validate PRSs in prospective studies. The development comprised 94,075 case subjects 75,017 control European ancestry 69 studies, divided into training validation sets. Samples were...
Reliable estimates of cancer risk are critical for guiding management BRCA1 and BRCA2 mutation carriers. The aims this study were to derive penetrance breast cancer, ovarian contralateral in a prospective series carriers assess how these risks modified by common susceptibility alleles. Prospective estimated using cohort 978 909 from the United Kingdom. Nine hundred eighty-eight women had no or diagnosis at baseline, 1509 unaffected 651 been diagnosed with unilateral cancer. Cumulative...
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.
Abstract Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets mutation carriers should allow further tumor characterization. Methods: We used data from 4,325 2,568 to analyze the pathology invasive breast, ovarian, contralateral cancers. Results: There was strong evidence proportion estrogen receptor (ER)-negative decreased with age at diagnosis among (P-trend = 1.2 × 10−5), but increased BRCA2, 6.8 10−6)....
Breast cancer (BC) risk prediction allows systematic identification of individuals at highest and lowest risk. We extend the Ovarian Analysis Disease Incidence Carrier Estimation Algorithm (BOADICEA) model to incorporate effects polygenic scores (PRS) other factors (RFs).
Data for multiple common susceptibility alleles breast cancer may be combined to identify women at different levels of risk. Such stratification could guide preventive and screening strategies. However, empirical evidence genetic risk is lacking. We investigated the value using 77 cancer-associated single nucleotide polymorphisms (SNPs) stratification, in a study 33 673 cases 381 control European origin. tested all possible pair-wise multiplicative interactions constructed 77-SNP polygenic...
Rare germline genetic variants in several genes are associated with increased breast cancer (BC) risk, but their precise contributions to different disease subtypes unclear. This information is relevant guidelines for gene panel testing and risk prediction.To characterize tumors BC susceptibility large-scale population- or hospital-based studies.The multicenter, international case-control analysis of the BRIDGES study included 42 680 patients 46 387 control participants, comprising women...
Polygenic risk scores (PRS) have been shown to predict breast cancer in European women, but their utility Asian women is unclear. Here we evaluate the best performing PRSs for European-ancestry using data from 17,262 cases and 17,695 controls of ancestry 13 case-control studies, 10,255 Chinese a prospective cohort (413 incident cancers). Compared middle quintile distribution, highest 1% PRS distribution ~2.7-fold lowest has ~0.4-fold developing cancer. There no evidence heterogeneity...
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...
Polygenic risk scores (PRS) for breast cancer can be used to stratify the population into groups at substantially different levels of risk. Combining PRS and environmental factors will improve prediction; however, integrating prediction models requires evaluation their joint association with known factors. Analyses were based on data from 20 studies; datasets analysed ranged 3453 23 104 invasive cases similar numbers controls, depending factor. We evaluated associations a 77-single...
Background The multifactorial Breast and Ovarian Analysis of Disease Incidence Carrier Estimation Algorithm (BOADICEA) breast cancer risk prediction model has been recently extended to consider all established factors. We assessed the clinical validity in a large independent prospective cohort. Methods validated BOADICEA (V.6) Swedish KARolinska Mammography Project for Risk Prediction Cancer (KARMA) cohort including 66 415 women European ancestry (median age 54 years, IQR 45–63; 816 incident...
Background BOADICEA (Breast and Ovarian Analysis of Disease Incidence Carrier Estimation Algorithm) for breast cancer the epithelial tubo-ovarian (EOC) models included in CanRisk tool ( www.canrisk.org ) provide future risks based on pathogenic variants cancer-susceptibility genes, polygenic risk scores, density, questionnaire-based factors family history. Here, we extend to include effects recently established EOC susceptibility up-to-date age-specific pathology distributions continuous...
The multifactorial risk prediction model BOADICEA enables identification of women at higher or lower developing breast cancer. models genetic susceptibility in terms the effects rare variants cancer genes and a polygenic component, decomposed into an unmeasured measured component - score (PRS). current version was developed using 313 SNP PRS. Here, we evaluated approaches to incorporating this PRS alternative BOADICEA.
Signaling lymphocytic activating molecule ((SLAM) CDw150) is a glycoprotein that belongs to the CD2 subset of immunoglobulin superfamily and expressed on surface activated T- B-cells. It has been proposed SLAM homophilic required for bidirectional signaling during B-cell activation. Previous work suggested affinity self-association might be unusually high, undermining concept protein interactions mediating transient cell-cell contacts, such as those involving leukocytes, have weak in order...
<h3>Background</h3> Risk prediction models are widely used in clinical genetic counselling. Despite their frequent use, the risk BOADICEA, BRCAPRO, IBIS and extended Claus model (eCLAUS), to estimate <i>BRCA1/2</i> mutation carrier probabilities, have never been comparatively evaluated a large sample from central Europe. Additionally, novel version of BOADICEA that incorporates tumour pathology information has not yet validated. <h3>Patients methods</h3> Using data 7352 German families we...
Abstract Background The effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk for BRCA1 and BRCA2 mutation carriers is uncertain. Retrospective analyses have suggested a protective but may be substantially biased. Prospective studies had limited power, particularly carriers. Further, previous not considered the RRSO in context natural menopause. Methods A multi-centre prospective cohort 2272 1605 was followed mean 5.4 4.9 years, respectively; 426 women developed incident...
We evaluated the joint associations between a new 313-variant PRS (PRS313) and questionnaire-based breast cancer risk factors for women of European ancestry, using 72 284 cases 80 354 controls from Breast Cancer Association Consortium. Interactions were standard logistic regression newly developed case-only method overall by estrogen receptor status. After accounting multiple testing, we did not find evidence that per-standard deviation PRS313 odds ratio differed across strata defined...
Background Mammography screening reduces breast cancer mortality, but a proportion of cancers are missed and detected at later stages or develop during between-screening intervals. Purpose To risk model based on negative mammograms that identifies women likely to be diagnosed with before the next examination. Materials Methods This study was prospective cohort Karolinska Project for Risk Prediction Breast Cancer (KARMA), 2011-2017. An image-based developed by using Stratus method...