Search Results - "Woodward, Emma R."

BRCA1 and BRCA2 pathogenic variant carriers and endometrial cancer risk: A cohort study by Kitson, Sarah J., Bafligil, Cemsel, Ryan, Neil A.J., Lalloo, Fiona, Woodward, Emma R., Clayton, Richard D., Edmondson, Richard J., Bolton, James, Crosbie, Emma J., Evans, D. Gareth

“…An association between BRCA pathogenic variants and an increased endometrial cancer risk, specifically serous-like endometrial cancer, has been postulated but…”
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Uptake of bilateral-risk-reducing-mastectomy: Prospective analysis of 7195 women at high-risk of breast cancer by Evans, D.Gareth, Gandhi, Ashu, Wisely, Julie, Clancy, Tara, Woodward, Emma R., Harvey, James, Highton, Lyndsey, Murphy, John, Barr, Lester, Howell, Sacha J., Lalloo, Fiona, Harkness, Elaine F., Howell, Anthony

“…Bilateral-Risk-Reducing-Mastectomy-(BRRM) is well described in BRCA1/2 pathogenic variant carriers. However, little is known about the relative uptake, time…”
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Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review by Casey, Ruth T, Warren, Anne Y, Martin, Jose Ezequiel, Challis, Benjamin G, Rattenberry, Eleanor, Whitworth, James, Andrews, Katrina A, Roberts, Thomas, Clark, Graeme R, West, Hannah, Smith, Philip S, Docquier, France M, Rodger, Fay, Murray, Vicki, Simpson, Helen L, Wallis, Yvonne, Giger, Olivier, Tran, Maxine, Tomkins, Susan, Stewart, Grant D, Park, Soo-Mi, Woodward, Emma R, Maher, Eamonn R

“…Abstract Context The co-occurrence of pheochromocytoma (PC) and renal tumors was linked to the inherited familial cancer syndrome von Hippel-Lindau (VHL)…”
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A Comprehensive Next Generation Sequencing–Based Genetic Testing Strategy To Improve Diagnosis of Inherited Pheochromocytoma and Paraganglioma by Rattenberry, Eleanor, Vialard, Lindsey, Yeung, Anna, Bair, Hayley, McKay, Kirsten, Jafri, Mariam, Canham, Natalie, Cole, Trevor R, Denes, Judit, Hodgson, Shirley V, Irving, Richard, Izatt, Louise, Korbonits, Márta, Kumar, Ajith V, Lalloo, Fiona, Morrison, Patrick J, Woodward, Emma R, Macdonald, Fiona, Wallis, Yvonne, Maher, Eamonn R

“…Context: Pheochromocytomas and paragangliomas are notable for a high frequency of inherited cases, many of which present as apparently sporadic tumors…”
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Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol by Dixon-Zegeye, Miriam, Shaw, Rachel, Collins, Linda, Perez-Smith, Kendra, Ooms, Alexander, Qiao, Maggie, Pantziarka, Pan, Izatt, Louise, Tischkowitz, Marc, Harrison, Rachel E, George, Angela, Woodward, Emma R, Lord, Simon, Hawkes, Lara, Evans, D Gareth, Franklin, James, Hanson, Helen, Blagden, Sarah P

“…Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disease caused by inherited or de novo germline pathogenic variants in TP53. Individuals with LFS have…”
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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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Is Reflex Germline BRCA1/2 Testing Necessary in Women Diagnosed with Non-Mucinous High-Grade Epithelial Ovarian Cancer Aged 80 Years or Older? by Morgan, Robert D, Burghel, George J, Flaum, Nicola, Bulman, Michael, Smith, Philip, Clamp, Andrew R, Hasan, Jurjees, Mitchell, Claire L, Salih, Zena, Woodward, Emma R, Lalloo, Fiona, Crosbie, Emma J, Edmondson, Richard J, Schlecht, Helene, Jayson, Gordon C, Evans, D Gareth R

“…Women diagnosed with non-mucinous high-grade epithelial ovarian cancer (EOC) in England are often reflex-tested for germline and tumour / variants. The value…”
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Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression by Smith, Joel, Read, Martin L, Hoffman, Jon, Brown, Rachel, Bradshaw, Beth, Campbell, Christopher, Cole, Trevor, Navas, Johanna Dieguez, Eatock, Fiona, Gundara, Justin S, Lian, Eric, Mcmullan, Dom, Morgan, Neil V, Mulligan, Lois, Morrison, Patrick J, Robledo, Mercedes, Simpson, Michael A, Smith, Vicki E, Stewart, Sue, Trembath, Richard C, Sidhu, Stan, Togneri, Fiona S, Wake, Naomi C, Wallis, Yvonne, Watkinson, John C, Maher, Eamonn R, McCabe, Christopher J, Woodward, Emma R

“…Familial medullary thyroid cancer (MTC) and its precursor, C cell hyperplasia (CCH), is associated with germline RET mutations causing multiple endocrine…”
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Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis by Robledo, Mercedes, Woodward, Emma R., Latif, Farida, Abbs, Stephen, Martin, Howard, Maher, E. R., Yao, Masahiro, Sanna, Mario, Irving, Richard, Martin, Tom, Clark, Graeme, Rodger, Fay, Walsh, Diana, Luchetti, Andrea, Neumann, Hartmut P. H.

“…At least 12 genes (FH, HIF2A, MAX, NF1, RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, and VHL) have been implicated in inherited predisposition to…”
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Hereditary renal cancer patient and public involvement group: A collaborative, consensus decision process to develop a communication tool for patient use by Colvin, Ellen, Ng, Stephanie, Hepworth, John, Hepworth, Janice, Hartley, Thomas, Godfrey, Nicola, Tricker, Karen, Rothwell, Jeanette, Beaman, Glenda, Woodward, Emma R

“…Patient and public involvement (PPI) must be more frequently embedded within clinical research to ensure translational outcomes are patient-led and meet…”
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Genome-wide CpG island methylation analysis implicates novel genes in the pathogenesis of renal cell carcinoma by Ricketts, Christopher J., Morris, Mark R., Gentle, Dean, Brown, Michael, Wake, Naomi, Woodward, Emma R., Clarke, Noel, Latif, Farida, Maher, Eamonn R.

“…In order to identify novel candidate tumor suppressor genes (TSGs) implicated in renal cell carcinoma (RCC), we performed genome-wide methylation profiling of…”
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Von Hippel-Lindau disease and endocrine tumour susceptibility by Woodward, Emma R, Maher, Eamonn R

“…Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome caused by mutations in the VHL tumour suppressor gene. VHL disease is…”
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SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity by Casey, Ruth T., Ascher, David B., Rattenberry, Eleanor, Izatt, Louise, Andrews, Katrina A., Simpson, Helen L., Challis, Benjamen, Park, Soo‐Mi, Bulusu, Venkata R., Lalloo, Fiona, Pires, Douglas E. V., West, Hannah, Clark, Graeme R., Smith, Philip S., Whitworth, James, Papathomas, Thomas G., Taniere, Phillipe, Savisaar, Rosina, Hurst, Laurence D., Woodward, Emma R., Maher, Eamonn R.

“…Purpose To evaluate the role of germline SDHA mutation analysis by (1) comprehensive literature review, (2) description of novel germline SDHA mutations and…”
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Familial Non-VHL Clear Cell (Conventional) Renal Cell Carcinoma: Clinical Features, Segregation Analysis, and Mutation Analysis of FLCN by WOODWARD, Emma R, RICKETTS, Christopher, ESCUDIER, Bernard, LATIF, Farida, RICHARD, Stéphane, MAHERL, Eamonn R, KILLICK, Pip, GAD, Sophie, MORRIS, M. R, KAVALIER, Fred, HODGSON, Shirleyv, GIRAUD, Sophie, BRESSAC-DE PAILLERETS, Brigitte, CHAPMAN, Cyril

“…Purpose: Familial renal cell carcinoma (RCC) is genetically heterogeneous. The most common histopathologic subtype of sporadic and familial RCC is clear cell…”
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RE: Heterozygous BRCA1/BRCA2 and mismatch repair gene pathogenic variants in children and adolescents with cancer by Evans, D Gareth, Woodward, Emma R

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Fanconi Anaemia, Childhood Cancer and the BRCA Genes by Woodward, Emma R, Meyer, Stefan

“…Fanconi anaemia (FA) is an inherited chromosomal instability disorder characterised by congenital and developmental abnormalities and a strong cancer…”
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Population-based survey of cancer risks in chromosome 3 translocation carriers by Woodward, Emma R., Skytte, Anne-Bine, Cruger, Dorthe G., Maher, Eamonn R.

“…Familial renal cell carcinoma (RCC) is genetically heterogeneous and may be associated with germline mutations in a number of genes. Twelve different…”
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Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB , SDHC and SDHD by Andrews, Katrina A, Ascher, David B, Pires, Douglas Eduardo Valente, Barnes, Daniel R, Vialard, Lindsey, Casey, Ruth T, Bradshaw, Nicola, Adlard, Julian, Aylwin, Simon, Brennan, Paul, Brewer, Carole, Cole, Trevor, Cook, Jackie A, Davidson, Rosemarie, Donaldson, Alan, Fryer, Alan, Greenhalgh, Lynn, Hodgson, Shirley V, Irving, Richard, Lalloo, Fiona, McConachie, Michelle, McConnell, Vivienne P M, Morrison, Patrick J, Murday, Victoria, Park, Soo-Mi, Simpson, Helen L, Snape, Katie, Stewart, Susan, Tomkins, Susan E, Wallis, Yvonne, Izatt, Louise, Goudie, David, Lindsay, Robert S, Perry, Colin G, Woodward, Emma R, Antoniou, Antonis C, Maher, Eamonn R

“…Germline pathogenic variants in / are the most frequent causes of inherited phaeochromocytomas/paragangliomas. Insufficient information regarding penetrance…”
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Germline FH Mutations Presenting With Pheochromocytoma by Clark, Graeme R, Sciacovelli, Marco, Gaude, Edoardo, Walsh, Diana M, Kirby, Gail, Simpson, Michael A, Trembath, Richard C, Berg, Jonathan N, Woodward, Emma R, Kinning, Esther, Morrison, Patrick J, Frezza, Christian, Maher, Eamonn R

“…Context: At least a third of the patients with pheochromocytoma (PCC) or paraganglioma (PGL) harbor an underlying germline mutation in a known PCC/PGL gene…”
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Concern regarding classification of germline TP53 variants as likely pathogenic by Evans, D. Gareth, Turnbull, Clare, Woodward, Emma R.

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