Search Results - "van Veen, Elke M."

A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer by Evans, D.Gareth R., van Veen, Elke M., Byers, Helen J., Wallace, Andrew J., Ellingford, Jamie M., Beaman, Glenda, Santoyo-Lopez, Javier, Aitman, Timothy J., Eccles, Diana M., Lalloo, Fiona I., Smith, Miriam J., Newman, William G.

“…Pathogenic variants in BRCA1 or BRCA2 are identified in ∼20% of families with multiple individuals affected by early-onset breast and/or ovarian cancer…”
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Use of Single-Nucleotide Polymorphisms and Mammographic Density Plus Classic Risk Factors for Breast Cancer Risk Prediction by van Veen, Elke M, Brentnall, Adam R, Byers, Helen, Harkness, Elaine F, Astley, Susan M, Sampson, Sarah, Howell, Anthony, Newman, William G, Cuzick, Jack, Evans, D Gareth R

“…Single-nucleotide polymorphisms (SNPs) have demonstrated an association with breast cancer susceptibility, but there is limited evidence on how to incorporate…”
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Breast cancer incidence and early diagnosis in a family history risk and prevention clinic: 33-year experience in 14,311 women by Evans, D. Gareth, Howell, Sacha J., Gandhi, Ashu, van Veen, Elke M., Woodward, Emma R., Harvey, James, Barr, Lester, Wallace, Andrew, Lalloo, Fiona, Wilson, Mary, Hurley, Emma, Lim, Yit, Maxwell, Anthony J., Harkness, Elaine F., Howell, Anthony

“…Purpose Women at increased familial breast cancer risk have been offered screening starting at an earlier age and increased frequency than national Screening…”
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Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent by Roberts, Eleanor, van Veen, Elke M., Byers, Helen, Barnett-Griness, Ofra, Gronich, Naomi, Lejbkowicz, Flavio, Pinchev, Mila, Smith, Miriam J., Howell, Anthony, Newman, William G., Woodward, Emma R., Harkness, Elaine F., Brentnall, Adam R., Cuzick, Jack, Rennert, Gad, Howell, Sacha J., Gareth Evans, D.

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Polymorphisms in alcohol-metabolizing enzymes and esophageal carcinoma susceptibility: a Dutch Caucasian case-control study by Dura, Polat, Berkers, Tineke, van Veen, Elke M, Salomon, Jody, te Morsche, Rene H M, Roelofs, Hennie M J, Kristinsson, Jon O, Wobbes, Theo, Witteman, Ben J M, Tan, Adriaan C I T L, Drenth, Joost P H, Peters, Wilbert H M

“…Esophageal cancer (EC), mainly consisting of squamous cell carcinoma (ESCC) in the Eastern world and adenocarcinoma (EAC) in the Western world, is strongly…”
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Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer by Woodward, Emma R., van Veen, Elke M., Forde, Claire, Harkness, Elaine F., Byers, Helen J., Ellingford, Jamie M., Burghel, George J., Schlech, Helene, Bowers, Naomi L., Wallace, Andrew J., Howell, Sacha J., Howell, Anthony, Lalloo, Fiona, Newman, William G., Smith, Miriam J., Gareth Evans, D.

“…To investigate the contribution of PALB2 pathogenic gene variants (PGVs, PALB2_PGV) and the CHEK2 c.1100delC (CHEK2_1100delC) PGV to familial breast and…”
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From BRCA1 to Polygenic Risk Scores: Mutation-Associated Risks in Breast Cancer-Related Genes by Woodward, Emma R., van Veen, Elke M., Evans, D. Gareth

“…Background: There has been huge progress over the last 30 years in identifying the familial component of breast cancer. Summary: Currently around 20% is…”
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Extended gene panel testing in lobular breast cancer by van Veen, Elke M., Evans, D. Gareth, Harkness, Elaine F., Byers, Helen J., Ellingford, Jamie M., Woodward, Emma R., Bowers, Naomi L., Wallace, Andrew J., Howell, Sacha J., Howell, Anthony, Lalloo, Fiona, Newman, William G., Smith, Miriam J.

“…Purpose : Lobular breast cancer (LBC) accounts for ~ 15% of breast cancer. Here, we studied the frequency of pathogenic germline variants (PGVs) in an extended…”
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A Novel Automated Approach to Mutation-Cancer Relation Extraction by Incorporating Heterogeneous Knowledge by Cao, Jiarun, van Veen, Elke M, Peek, Niels, Renehan, Andrew G, Ananiadou, Sophia

“…Automatic extraction of relations between gene mutations and cancer entities occurring in the cancer literature using text mining can rapidly provide vital…”
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A case–control evaluation of 143 single nucleotide polymorphisms for breast cancer risk stratification with classical factors and mammographic density by Brentnall, Adam R., Veen, Elke M., Harkness, Elaine F., Rafiq, Sajjad, Byers, Helen, Astley, Susan M., Sampson, Sarah, Howell, Anthony, Newman, William G., Cuzick, Jack, Evans, Dafydd Gareth R.

“…Panels of single nucleotide polymorphisms (SNPs) stratify risk for breast cancer in women from the general population, but studies are needed assess their use…”
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The importance of ethnicity: Are breast cancer polygenic risk scores ready for women who are not of White European origin? by Evans, D. Gareth, Veen, Elke M., Byers, Helen, Roberts, Eleanor, Howell, Anthony, Howell, Sacha J., Harkness, Elaine F., Brentnall, Adam, Cuzick, Jack, Newman, William G.

“…Polygenic risk scores (PRS) for disease risk stratification show great promise for application in general populations, but most are based on data from…”
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Breast cancer pathology and stage are better predicted by risk stratification models that include mammographic density and common genetic variants by Evans, D. Gareth R., Harkness, Elaine F., Brentnall, Adam R., van Veen, Elke M., Astley, Susan M., Byers, Helen, Sampson, Sarah, Southworth, Jake, Stavrinos, Paula, Howell, Sacha J., Maxwell, Anthony J., Howell, Anthony, Newman, William G., Cuzick, Jack

“…Purpose To improve breast cancer risk stratification to enable more targeted early detection/prevention strategies that will better balance risks and benefits…”
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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 by Evans, D. Gareth R., van Veen, Elke M., Harkness, Elaine F., Brentnall, Adam R., Astley, Susan M., Byers, Helen, Woodward, Emma R., Sampson, Sarah, Southworth, Jake, Howell, Sacha J., Maxwell, Anthony J., Newman, William G., Cuzick, Jack, Howell, Anthony

“…There is great promise in breast cancer risk stratification to target screening and prevention. It is unclear whether adding gene panels to other risk tools…”
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Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent by Roberts, Eleanor, van Veen, Elke M., Byers, Helen, Barnett-Griness, Ofra, Gronich, Naomi, Lejbkowicz, Flavio, Pinchev, Mila, Smith, Miriam J., Howell, Anthony, Newman, William G., Woodward, Emma R., Harkness, Elaine F., Brentnall, Adam R., Cuzick, Jack, Rennert, Gad, Howell, Sacha J., Evans, D. Gareth

“…Polygenic risk scores (PRSs) are a major component of accurate breast cancer (BC) risk prediction but require ethnicity-specific calibration. Ashkenazi Jewish…”
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Constitutional de novo deletion CNV encompassing REST predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN) by Hyder, Zerin, Fairclough, Adele, Groom, Mike, Getty, Joan, Alexander, Elizabeth, van Veen, Elke M, Makin, Guy, Sethuraman, Chitra, Tang, Vivian, Evans, D Gareth, Maher, Eamonn R, Woodward, Emma R

“…Nephroblastomatosis is a recognised precursor for the development of Wilms tumour (WT), the most common childhood renal tumour. While the majority of WT is…”
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Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing by Byers, Helen, Wallis, Yvonne, van Veen, Elke M, Lalloo, Fiona, Reay, Kim, Smith, Philip, Wallace, Andrew J, Bowers, Naomi, Newman, William G, Evans, D Gareth

“…The sensitivity of testing BRCA1 and BRCA2 remains unresolved as the frequency of deep intronic splicing variants has not been defined in high-risk familial…”
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Dominant‐negative pathogenic variant BRIP1 c.1045G>C is a high‐risk allele for non‐mucinous epithelial ovarian cancer: A case‐control study by Flaum, Nicola, Veen, Elke M., Smith, Olivia, Amico, Stephanie, Newman, William G., Crosbie, Emma J., Edmondson, Richard, Smith, Miriam J., Evans, D. Gareth

“…BRIP1 is a moderate susceptibility epithelial ovarian cancer (EOC) gene. Having identified the BRIP1 c.1045G>C missense variant in a number of families with…”
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EPICURE: Ensemble Pretrained Models for Extracting Cancer Mutations from Literature by Cao, Jiarun, van Veen, Elke M, Peek, Niels, Renehan, Andrew G, Ananiadou, Sophia

“…To interpret the genetic profile present in a patient sample, it is necessary to know which mutations have important roles in the development of the…”
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Transmission of molecularly undetectable circulating parasite clones leads to high infection complexity in mosquitoes post feeding by Grignard, Lynn, Gonçalves, Bronner P., Early, Angela M., Daniels, Rachel F., Tiono, Alfred B., Guelbéogo, Wamdaogo M., Ouédraogo, Alphonse, van Veen, Elke M., Lanke, Kjerstin, Diarra, Amidou, Nebie, Issa, Sirima, Sodiomon B., Targett, Geoff A., Volkman, Sarah K., Neafsey, Daniel E., Wirth, Dyann F., Bousema, Teun, Drakeley, Chris

“…[Display omitted] •Additional parasite alleles were consistently identified in mosquitoes compared with the human blood sample they had fed on.•Assessments of…”
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Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability by Evans, D. Gareth, van Veen, Elke M., Woodward, Emma R., Harkness, Elaine F., Ellingford, Jamie M., Bowers, Naomi L., Wallace, Andrew J., Howell, Sacha J., Howell, Anthony, Lalloo, Fiona, Newman, William G., Smith, Miriam J.

“…Whilst panel testing of an extended group of genes including BRCA1/2 is commonplace, these studies have not been subdivided by histiotype or by a priori…”
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