Laura Fachal
University of Cambridge
GeneGenome-wide association studyInternal medicineOncologySingle-nucleotide polymorphismOdds ratioRadiogenomicsAlleleGenetic associationHaplotypeProstate cancerPopulationCongenital ichthyosisToxicityRadiation therapyBreast cancerGeneticsComputational biologyMedicineCohortBiology
78Publications
24H-index
2,846Citations
Publications 75
Newest
#1Joseph S Baxter (ICR: Institute of Cancer Research)H-Index: 1
#2Nichola Johnson (ICR: Institute of Cancer Research)H-Index: 46
Last. Qin Wang (University of Cambridge)H-Index: 43
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A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), and 42 (signal 3) credible causal variants at these loci. We used publicly available in silico DNase I and ChIP-seq data with in vitro reporter gene and CRISPR assays to annotate signals 2 and 3. We identified putative regulatory elements that enhanced cell-type-specific trans...
1 CitationsSource
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#1Nicola Rares Franco (Ghent University Hospital)H-Index: 1
#1Nicola Rares Franco (Ghent University Hospital)
Last. Tiziana RancatiH-Index: 27
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AIM To identify the effect of single nucleotide polymorphism (SNP) interactions on the risk of toxicity following radiotherapy (RT) for prostate cancer (PCa) and propose a new method for polygenic risk score incorporating SNP-SNP interactions (PRSi). MATERIALS AND METHODS Analysis included the REQUITE PCa cohort that received external beam RT and was followed for 2 years. Late toxicity endpoints were: rectal bleeding, urinary frequency, haematuria, nocturia, decreased urinary stream. Among 43 li...
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#2Leila DorlingH-Index: 13
#3Sara CarvalhoH-Index: 18
Last. Douglas F. EastonH-Index: 172
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BACKGROUND Genetic testing for breast cancer susceptibility is widely used, but for many genes, evidence of an association with breast cancer is weak, underlying risk estimates are imprecise, and reliable subtype-specific risk estimates are lacking. METHODS We used a panel of 34 putative susceptibility genes to perform sequencing on samples from 60,466 women with breast cancer and 53,461 controls. In separate analyses for protein-truncating variants and rare missense variants in these genes, we ...
17 CitationsSource
#1David V. Conti (SC: University of Southern California)H-Index: 72
#2Burcu F. Darst (SC: University of Southern California)H-Index: 18
Last. Christopher A. Haiman (SC: University of Southern California)H-Index: 113
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In the version of this article originally published, the names of the equally contributing authors and jointly supervising authors were switched. The correct affiliations are: “These authors contributed equally: David V. Conti, Burcu F. Darst. These authors jointly supervised this work: David V. Conti, Rosalind A. Eeles, Zsofia Kote-Jarai, Christopher A. Haiman.” The error has been corrected in the HTML and PDF versions of the article.
1 CitationsSource
#1David V. Conti (SC: University of Southern California)H-Index: 72
#2Burcu F. Darst (SC: University of Southern California)H-Index: 18
Last. Christopher A. Haiman (SC: University of Southern California)H-Index: 113
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Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer genome-wide association studies (107,247 cases and 127,006 controls) and identified 86 new genetic risk variants independently associated with prostate cancer risk, bringing the total to 269 known risk variants. The top genetic risk score (GRS) decile was associated with odds ratios that ranged from 5.06 (95% confidence...
7 CitationsSource
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#1Michela Carlotta Massi (Polytechnic University of Milan)H-Index: 2
#2Francesca Gasperoni (Medical Research Council)H-Index: 1
Last. Tiziana RancatiH-Index: 27
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Background: REQUITE (validating pREdictive models and biomarkers of radiotherapy toxicity to reduce side effects and improve QUalITy of lifE in cancer survivors) is an international prospective cohort study. The purpose of this project was to analyse a cohort of patients recruited into REQUITE using a deep learning algorithm to identify patient-specific features associated with the development of toxicity, and test the approach by attempting to validate previously published genetic risk factors....
2 CitationsSource
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#1Eva G. SerraH-Index: 8
#2Tobias Schwerd (LMU: Ludwig Maximilian University of Munich)H-Index: 17
Last. Carl A. AndersonH-Index: 44
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Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of 3.5 years), in whom no Mendelian disorders were clinically suspected. In five patients we detect a primary immunodeficiency or enteropathy, with clinical consequences (XIAP, CYBA, SH2D1A, PCSK1). We also present a case study of a VEO-IBD patient with...
12 CitationsSource