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| Naji, M. |
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| Motta, Antonella |
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| Aletan, Dirar |
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| Mohamed, Tarek |
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| Ertürk, Emre |
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| Taccardi, Nicola |
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| Kononenko, Denys |
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| Petrov, R. H. | Madrid |
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| Alshaaer, Mazen | Brussels |
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| Bih, L. |
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| Casati, R. |
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| Muller, Hermance |
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| Kočí, Jan | Prague |
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| Šuljagić, Marija |
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| Kalteremidou, Kalliopi-Artemi | Brussels |
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| Azam, Siraj |
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| Ospanova, Alyiya |
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| Blanpain, Bart |
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| Ali, M. A. |
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| Popa, V. |
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| Rančić, M. |
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| Ollier, Nadège |
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| Azevedo, Nuno Monteiro |
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| Landes, Michael |
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| Rignanese, Gian-Marco |
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Evans, Gareth
University of Manchester
in Cooperation with on an Cooperation-Score of 37%
Topics
Publications (5/5 displayed)
- 2024Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition genecitations
- 2022Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21citations
- 2018Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?citations
- 2017Pathology update to the Manchester Scoring System based on testing in over 4000 familiescitations
- 2017The impact of a panel of 18 single nucleotide polymorphisms on breast cancer risk in women attending a UK familial-screening clinic: A case-control studycitations
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article
The impact of a panel of 18 single nucleotide polymorphisms on breast cancer risk in women attending a UK familial-screening clinic: A case-control study
Abstract
Background:Breast cancer familial-risk clinics offer screening and preventive strategies. Whilst BRCA1/BRCA2 genetic testing provides important risk information for some women, panels of more common breast cancer risk genetic variants may have relevance to greater numbers of women with familial risk.<br/>Methods:Three polygenic risk scores(PRS) based on 18 single nucleotide polymorphisms(SNPs) were investigated in a case-control study of women attending a familial-risk clinic. PRS were derived from published general European population allele odds ratios and frequencies (18-SNPs-SNP18). In women with BRCA1/BRCA2 mutations, 3 SNPs/13 SNPs, respectively generated the PRS estimates.In total 364 incident breast cancer cases(112 with BRCA1/2 mutations) were matched to 1605 controls(691-BRCA1/2) by age last mammogram and BRCA1/2 genetic test result. 87 women with cancer before attendance were also considered. Logistic regression was used to measure PRS performance through odds ratios per inter-quartile range(IQ-OR) and calibration of the observed to expected(O/E) logarithm relative risk when unadjusted and adjusted for phenotypic risk factors assessed by the Tyrer-Cuzick(TC) model.<br/>Results:SNP18 was predictive for non-carriers of BRCA1/2 mutations (IQ-OR 1.55, 95%CI:1.29-1.87, O/E 96%). Findings were unaffected by adjustment from TC (IQ-OR 1.56, 95%CI:1.29-1.89) or when prior cancers were included (IQ-OR 1.55, 95%CI:1.30-1.87). There was some evidence to support polygenic scores with weights for individuals with BRCA1/2 mutations (BRCA1 IQ-OR 1.44, 95%CI:1.17-1.76;BRCA2 IQ-OR 1.44, 95%CI:0.90-2.31).<br/>Conclusion:Polygenic risk scores may be used to refine risk assessment for women at increased familial risk who test negative/have low likelihood of BRCA1/2 mutations. They may alter the recommended prevention strategy for many women attending family-history clinics.<br/>