Research output per year
Research output per year
- 24 results
Search results
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2023
Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent
Roberts, E., van Veen, E. M., Byers, H., Barnett-Griness, O., Gronich, N., Lejbkowicz, F., Pinchev, M., Smith, M. J., Howell, A., Newman, W. G., Harkness, E. F., Brentnall, A. R., Cuzick, J., Rennert, G., Howell, S. J. & Evans, D. G., 1 Sept 2023, In: Genetics in medicine : official journal of the American College of Medical Genetics. 25, 9, 100846.Research output: Contribution to journal › Article › peer-review
Open Access -
Estimating the Cost of 3 Risk Prediction Strategies for Potential Use in the United Kingdom National Breast Screening Program
Wright, S., Eden, M., Ruane, H., Byers, H., Evans, D. G., Harvie, M., Howell, S., Howell, T., French, D. & Payne, K., 1 Jun 2023, In: Medical Decision Making Policy & Practice. 8, 1Research output: Contribution to journal › Article › peer-review
Open Access -
Validation of lung cancer polygenic risk scores in a high-risk case-control cohort
Lebrett, M., Smith, M. J., Crosbie, E., Bowes, J., Byers, H., Evans, D. G. & Crosbie, P., 30 Apr 2023, (Accepted/In press) In: Genetics in Medicine.Research output: Contribution to journal › Article › peer-review
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2022
Breast cancer risk stratification in women of screening age: Incremental effects of adding mammographic density, polygenic risk, and a gene panel
Evans, D. G. R., Veen, E. M. V., Harkness, E. F., Brentnall, A. R., Astley, S. M., Byers, H., Woodward, E. R., Sampson, S., Southworth, J., Howell, S. J., Maxwell, A. J., Newman, W. G., Cuzick, J. & Howell, A., Jul 2022, In: Genetics in Medicine.Research output: Contribution to journal › Article › peer-review
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Breast cancer risk stratification in women of screening age: Incremental effects of adding mammographic density, polygenic risk and a gene panel
Evans, D. G., Van Veen, E., Harkness, E., Brentnall, A., Astley, S., Byers, H., Woodward, E., Sampson, S., Southworth, J., Howell, S., Maxwell, A., Newman, W., Cuzick, J. & Howell, T., 14 Mar 2022, (Accepted/In press) In: Genetics in Medicine.Research output: Contribution to journal › Article › peer-review
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2021
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer
Woodward, E., Van Veen, E., Forde, C., Harkness, E., Byers, H., Ellingford, J., Bowers, N., Wallace, A. J., Howell, S., Howell, T., Lalloo, F., Newman, W., Smith, M. J. & Evans, D. G., 13 May 2021, (Accepted/In press) In: Genetics in Medicine.Research output: Contribution to journal › Article › peer-review
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Extended gene panel testing in lobular breast cancer
Van Veen, E., Evans, D. G., Harkness, E., Byers, H., Ellingford, J., Woodward, E., Bowers, N., Wallace, A. J., Howell, S., Howell, T., Lalloo, F., Newman, W. & Smith, M. J., 3 Mar 2021, (Accepted/In press) In: Familial Cancer.Research output: Contribution to journal › Article › peer-review
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The importance of Ethnicity: are breast cancer Polygenic Risk Scores ready for women who are not of white European origin?
Evans, D. G., Veen, E. M., Byers, H., Roberts, E., Howell, A., Howell, S. J., Harkness, E. F., Brentnall, A., Cuzick, J. & Newman, W. G., 30 Aug 2021, In: International Journal of Cancer.Research output: Contribution to journal › Article › peer-review
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2020
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer
Evans, D. G., Van Veen, E., Byers, H., Evans, S., Burghel, G., Woodward, E., Harkness, E., Eccles, D. M., Greville-Heygate, S., Ellingford, J., Bowers, N. L., Pereira, M., Wallace, A. J., Howell, S., Howell, T., Lalloo, F., Newman, W. & Smith, M. J., 31 Oct 2020, (Accepted/In press) In: Journal of Medical Genetics.Research output: Contribution to journal › Article › peer-review
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2019
A case-control evaluation of 143 single nucleotide polymorphisms for breast cancer risk stratification with classical factors and mammographic density
Brentnall, A. R., Van Veen, E., Harkness, E., Rafiq, S., Byers, H., Astley, S., Sampson, S., Howell, A., Newman, W., Cuzick, J. & Evans, D. G., 2019, In: Int. J. Cancer.Research output: Contribution to journal › Article › peer-review
Open Access -
Breast cancer pathology and stage are better predicted by risk stratification models that include mammographic density and common genetic variants
Evans, D. G., Harkness, E., Brentnall, A., Van Veen, E., Astley, S., Byers, H., Sampson, S., Southworth, J., Stavrinos, P., Howell, S., Maxwell, A., Howell, A., Newman, W. & Cuzick, J., 2019, In: Breast Cancer Research and Treatment.Research output: Contribution to journal › Article › peer-review
Open Access -
2018
A dominantly inherited 5’UTR variant causing methylation associated silencing of BRCA1 as a cause of breast and ovarian cancer
Evans, D. G., Van Veen, E., Byers, H., Wallace, A. J., Ellingford, J., Lalloo, F., Smith, M. J. & Newman, W., Aug 2018, In: American Journal of Human Genetics. 103, 2, p. 213-220 8 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Use of Single-Nucleotide Polymorphisms and Mammographic Density Plus Classic Risk Factors for Breast Cancer Risk Prediction
Van Veen, E., Brentnall, A. R., Byers, H., Harkness, E., Astley, S., Sampson, S., Howell, A., Newman, W., Cuzick, J. & Evans, D., 18 Jan 2018, In: JAMA oncology. 4, 4, p. 476-482 7 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile56 Downloads (Pure) -
2017
A synonymous variant in TREX1 is associated with systemic sclerosis and severe digital ischaemia
Hughes, M., Little, J., Herrick, A., Pushpakom, S., Byers, H., Worthington, J. & Newman, W., 2017, In: Scandinavian Journal of Rheumatology. 46, 1, p. 77-78 2 p.Research output: Contribution to journal › Letter › peer-review
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Impact of a panel of 88 single nucleotide polymorphisms on the risk of breast cancer in high-risk women: Results from two randomized tamoxifen prevention trials
Cuzick, J., Brentnall, A. R., Segal, C., Byers, H., Reuter, C., Detre, S., Lopez-Knowles, E., Sestak, I., Howell, A., Powles, T. J., Newman, W. G. & Dowsett, M., 1 Mar 2017, In: Journal of Clinical Oncology. 35, 7, p. 743-750 8 p.Research output: Contribution to journal › Article › peer-review
Open Access -
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
Evans, D., Brentnall, A. R., Byers, H., Harkness, E., Stavrinos, P., Howell, A., Newman, W. & Cuzick, J., 1 Feb 2017, In: Journal of Medical Genetics. 54, p. 111-113 3 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile109 Downloads (Pure) -
2016
AMH type II receptor and AMH gene polymorphisms are not associated with ovarian reserve, response, or outcomes in ovarian stimulation
Cerra, C., Newman, W. G., Tohlob, D., Byers, H., Horne, G., Roberts, S. A. & Mohiyiddeen, L., Aug 2016, In: Journal of Assisted Reproduction and Genetics. 33, 8, p. 1085-91 7 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Association of a promoter polymorphism in FSHR with ovarian reserve and response to ovarian stimulation in women undergoing assisted reproductive treatment
Tohlob, D., Abo Hashem, E., Ghareeb, N., Ghanem, M., Elfarahaty, R., Byers, H., Pemberton, P., Roberts, S. A., Newman, W. G. & Mohiyiddeen, L., Sept 2016, In: Reproductive BioMedicine Online. 33, 3, p. 391-7 7 p.Research output: Contribution to journal › Article › peer-review
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DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation
Urquhart, J. E., Beaman, G., Byers, H., Roberts, N. A., Chervinsky, E., O'Sullivan, J., Pilz, D., Fry, A., Williams, S. G., Bhaskar, S. S., Khayat, M., Simanovsky, N., Shachar, I. B., Shalev, S. A. & Newman, W. G., Jun 2016, In: Clinical Genetics. 89, 6, p. 724-7 4 p.Research output: Contribution to journal › Article › peer-review
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Relationship of ZNF423 and CTSO with breast cancer risk in two randomised tamoxifen prevention trials
Brentnall, A. R., Cuzick, J., Byers, H., Segal, C., Reuter, C., Detre, S., Sestak, I., Howell, A., Powles, T. J., Newman, W. G. & Dowsett, M., 1 Aug 2016, In: Breast Cancer Research and Treatment. 158, 3, p. 591-596 6 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile98 Downloads (Pure) -
Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing
Byers, H., Yvonne Wallis, Van Veen, E., Lalloo, F., Kim Reay, Smith, P., Wallace, A. J., Bowers, N., Newman, W. & Evans, D., Nov 2016, In: European Journal of Human Genetics. 24, 11, p. 1591-1597 7 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile385 Downloads (Pure) -
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes.
Smith, M. J., Urquhart, J., Harkness, E., Miles, E. K., Bowers, N. L., Byers, H., Bulman, M., Gokhale, C., Wallace, A. J., Newman, W. & Evans, G., Mar 2016, In: Human Mutation. 37, 3, p. 250–256Research output: Contribution to journal › Article › peer-review
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Use of multiple Single Nucleotide Polymorphism (SNP) testing to predict breast cancer risk in a familial screening clinic
Evans, D., Brentnall, A. R., Byers, H., Harkness, E., Stavrinos, P., Howell, A., Newman, W. & Cuzick, J., 28 Oct 2016, (Accepted/In press) In: Journal of Medical Genetics.Research output: Contribution to journal › Article › peer-review
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2015
Identification of a novel familial FGF16 mutation in two cases of MF4.
Jones, B., Byers, H., Watson, S. & Newman, W., Jul 2015, In: Clinical dysmorphology. 23, 3Research output: Contribution to journal › Article › peer-review