Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 303

1.

Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer.

Hyder Z, Harkness EF, Woodward ER, Bowers NL, Pereira M, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ, Evans DG.

Cancers (Basel). 2020 Feb 7;12(2). pii: E378. doi: 10.3390/cancers12020378.

2.

Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing.

Smith PS, Whitworth J, West H, Cook J, Gardiner C, Lim DHK, Morrison PJ, Hislop RG, Murray E; NIHR Rare Disease BioResource, Tischkowitz M, Warren AY, Woodward ER, Maher ER.

Genes Chromosomes Cancer. 2020 Jan 14. doi: 10.1002/gcc.22833. [Epub ahead of print]

PMID:
31943436
3.

Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals.

Forde C, Lim DHK, Alwan Y, Burghel G, Butland L, Cleaver R, Dixit A, Evans DG, Hanson H, Lalloo F, Oliveira P, Vialard L, Wallis Y, Maher ER, Woodward ER.

Eur Urol Oncol. 2019 Dec 9. pii: S2588-9311(19)30161-0. doi: 10.1016/j.euo.2019.11.002. [Epub ahead of print]

4.

Challenging the believed proportion of ovarian cancer attributable to BRCA2 versus BRCA1 pathogenic variants.

Flaum N, Crosbie EJ, Woodward ER, Lalloo F, Gareth Evans D.

Eur J Cancer. 2020 Jan;124:88-90. doi: 10.1016/j.ejca.2019.10.018. Epub 2019 Nov 21. No abstract available.

PMID:
31760313
5.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A, Lalloo F, Larsen M, Lattimore VL, Lautrup C, Ledig S, Leinert E, Lewis AL, Lim J, Loeffler M, López-Fernández A, Lucci-Cordisco E, Maass N, Manoukian S, Marabelli M, Matricardi L, Meindl A, Michelli RD, Moghadasi S, Moles-Fernández A, Montagna M, Montalban G, Monteiro AN, Montes E, Mori L, Moserle L, Müller CR, Mundhenke C, Naldi N, Nathanson KL, Navarro M, Nevanlinna H, Nichols CB, Niederacher D, Nielsen HR, Ong KR, Pachter N, Palmero EI, Papi L, Pedersen IS, Peissel B, Perez-Segura P, Pfeifer K, Pineda M, Pohl-Rescigno E, Poplawski NK, Porfirio B, Quante AS, Ramser J, Reis RM, Revillion F, Rhiem K, Riboli B, Ritter J, Rivera D, Rofes P, Rump A, Salinas M, Sánchez de Abajo AM, Schmidt G, Schoenwiese U, Seggewiß J, Solanes A, Steinemann D, Stiller M, Stoppa-Lyonnet D, Sullivan KJ, Susman R, Sutter C, Tavtigian SV, Teo SH, Teulé A, Thomassen M, Tibiletti MG, Tischkowitz M, Tognazzo S, Toland AE, Tornero E, Törngren T, Torres-Esquius S, Toss A, Trainer AH, Tucker KM, van Asperen CJ, van Mackelenbergh MT, Varesco L, Vargas-Parra G, Varon R, Vega A, Velasco Á, Vesper AS, Viel A, Vreeswijk MPG, Wagner SA, Waha A, Walker LC, Walters RJ, Wang-Gohrke S, Weber BHF, Weichert W, Wieland K, Wiesmüller L, Witzel I, Wöckel A, Woodward ER, Zachariae S, Zampiga V, Zeder-Göß C; KConFab Investigators, Lázaro C, De Nicolo A, Radice P, Engel C, Schmutzler RK, Goldgar DE, Spurdle AB.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

6.

Concern regarding classification of germline TP53 variants as likely pathogenic.

Evans DG, Turnbull C, Woodward ER.

Hum Mutat. 2019 Jun;40(6):828-831. doi: 10.1002/humu.23750. Epub 2019 Apr 24. No abstract available.

PMID:
31016814
7.

Smoking Bans in Psychiatric Units: An Issue of Medical Ethics.

Woodward ER, Richmond R.

Front Psychiatry. 2019 Mar 20;10:134. doi: 10.3389/fpsyt.2019.00134. eCollection 2019. No abstract available.

8.

Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases.

Morgan RD, Burghel GJ, Flaum N, Bulman M, Clamp AR, Hasan J, Mitchell CL, Schlecht H, Woodward ER, Lallo FI, Crosbie EJ, Edmondson RJ, Wallace AJ, Jayson GC, Evans DGR.

J Med Genet. 2019 May;56(5):301-307. doi: 10.1136/jmedgenet-2018-105792. Epub 2019 Jan 25.

PMID:
30683677
9.

Are women with pathogenic variants in PMS2 and MSH6 really at high lifetime risk of breast cancer?

Evans DG, Woodward ER, Lalloo F, Møller P, Sampson J, Burn J, Moeslein G, Capella G.

Genet Med. 2019 Aug;21(8):1878-1879. doi: 10.1038/s41436-018-0401-1. Epub 2018 Dec 14. No abstract available.

PMID:
30631111
10.

Rapid reversal of clinical down-classification of a BRCA1 splicing variant avoiding psychological harm.

Smith MJ, Woodward ER, Burghel GJ, Banks C, Morgan RD, Wallace AJ, Turnbull C, Evans DG.

Clin Genet. 2019 Apr;95(4):532-533. doi: 10.1111/cge.13488. Epub 2018 Dec 26. No abstract available.

PMID:
30586678
11.

FGFR genes mutation is an independent prognostic factor and associated with lymph node metastasis in squamous non-small cell lung cancer.

Li JJ, Yan S, Pan Y, Liu Z, Liu Y, Deng Q, Tan Q, Woodward ER, Wu N.

Cancer Biol Ther. 2018;19(12):1108-1116. doi: 10.1080/15384047.2018.1480294. Epub 2018 Nov 7.

12.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium, Tischkowitz MD, Maher ER.

Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.

13.

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Andrews KA, Ascher DB, Pires DEV, Barnes DR, Vialard L, Casey RT, Bradshaw N, Adlard J, Aylwin S, Brennan P, Brewer C, Cole T, Cook JA, Davidson R, Donaldson A, Fryer A, Greenhalgh L, Hodgson SV, Irving R, Lalloo F, McConachie M, McConnell VPM, Morrison PJ, Murday V, Park SM, Simpson HL, Snape K, Stewart S, Tomkins SE, Wallis Y, Izatt L, Goudie D, Lindsay RS, Perry CG, Woodward ER, Antoniou AC, Maher ER.

J Med Genet. 2018 Jun;55(6):384-394. doi: 10.1136/jmedgenet-2017-105127. Epub 2018 Jan 31. Erratum in: J Med Genet. 2019 Jan;56(1):50-52.

14.

Young age at first pregnancy does protect against early onset breast cancer in BRCA1 and BRCA2 mutation carriers.

Evans DG, Harkness EF, Howel S, Woodward ER, Howell A, Lalloo F.

Breast Cancer Res Treat. 2018 Feb;167(3):779-785. doi: 10.1007/s10549-017-4557-1. Epub 2017 Nov 7.

15.

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.

Casey RT, Warren AY, Martin JE, Challis BG, Rattenberry E, Whitworth J, Andrews KA, Roberts T, Clark GR, West H, Smith PS, Docquier FM, Rodger F, Murray V, Simpson HL, Wallis Y, Giger O, Tran M, Tomkins S, Stewart GD, Park SM, Woodward ER, Maher ER.

J Clin Endocrinol Metab. 2017 Nov 1;102(11):4013-4022. doi: 10.1210/jc.2017-00562. Review.

16.

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.

Innes J, Reali L, Clayton-Smith J, Hall G, Lim DH, Burghel GJ, French K, Khan U, Walker D, Lalloo F, Evans DGR, McMullan D, Maher ER, Woodward ER.

J Med Genet. 2018 Feb;55(2):89-96. doi: 10.1136/jmedgenet-2017-104892. Epub 2017 Sep 16.

PMID:
28918392
17.

Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome: Implications for Stratified Surveillance Strategies.

Ryan NAJ, Morris J, Green K, Lalloo F, Woodward ER, Hill J, Crosbie EJ, Evans DG.

JAMA Oncol. 2017 Dec 1;3(12):1702-1706. doi: 10.1001/jamaoncol.2017.0619.

18.

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

Casey RT, Ascher DB, Rattenberry E, Izatt L, Andrews KA, Simpson HL, Challis B, Park SM, Bulusu VR, Lalloo F, Pires DEV, West H, Clark GR, Smith PS, Whitworth J, Papathomas TG, Taniere P, Savisaar R, Hurst LD, Woodward ER, Maher ER.

Mol Genet Genomic Med. 2017 Mar 2;5(3):237-250. doi: 10.1002/mgg3.279. eCollection 2017 May.

19.

Pathology update to the Manchester Scoring System based on testing in over 4000 families.

Evans DG, Harkness EF, Plaskocinska I, Wallace AJ, Clancy T, Woodward ER, Howell TA, Tischkowitz M, Lalloo F.

J Med Genet. 2017 Oct;54(10):674-681. doi: 10.1136/jmedgenet-2017-104584. Epub 2017 May 10.

PMID:
28490612
20.

Risk algorithms that include pathology adjustment for HER2 amplification need to make further downward adjustments in likelihood scores.

Evans DG, Woodward ER, Howell SJ, Verhoef S, Howell A, Lalloo F.

Fam Cancer. 2017 Apr;16(2):173-179. doi: 10.1007/s10689-016-9942-0.

21.

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.

Smith J, Read ML, Hoffman J, Brown R, Bradshaw B, Campbell C, Cole T, Navas JD, Eatock F, Gundara JS, Lian E, Mcmullan D, Morgan NV, Mulligan L, Morrison PJ, Robledo M, Simpson MA, Smith VE, Stewart S, Trembath RC, Sidhu S, Togneri FS, Wake NC, Wallis Y, Watkinson JC, Maher ER, McCabe CJ, Woodward ER.

Hum Mol Genet. 2016 May 1;25(9):1836-45. doi: 10.1093/hmg/ddw057. Epub 2016 Mar 3.

PMID:
26945007
22.

Low prevalence of HER2 positivity amongst BRCA1 and BRCA2 mutation carriers and in primary BRCA screens.

Evans DG, Lalloo F, Howell S, Verhoef S, Woodward ER, Howell A.

Breast Cancer Res Treat. 2016 Feb;155(3):597-601. doi: 10.1007/s10549-016-3697-z. Epub 2016 Feb 18.

PMID:
26888723
23.

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.

Whitworth J, Skytte AB, Sunde L, Lim DH, Arends MJ, Happerfield L, Frayling IM, van Minkelen R, Woodward ER, Tischkowitz MD, Maher ER.

JAMA Oncol. 2016 Mar;2(3):373-9. doi: 10.1001/jamaoncol.2015.4771. Review.

PMID:
26659639
24.

Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.

Luchetti A, Walsh D, Rodger F, Clark G, Martin T, Irving R, Sanna M, Yao M, Robledo M, Neumann HP, Woodward ER, Latif F, Abbs S, Martin H, Maher ER.

Int J Endocrinol. 2015;2015:138573. doi: 10.1155/2015/138573. Epub 2015 Mar 25.

25.

Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma.

Jafri M, Wake NC, Ascher DB, Pires DE, Gentle D, Morris MR, Rattenberry E, Simpson MA, Trembath RC, Weber A, Woodward ER, Donaldson A, Blundell TL, Latif F, Maher ER.

Cancer Discov. 2015 Jul;5(7):723-9. doi: 10.1158/2159-8290.CD-14-1096. Epub 2015 Apr 14.

26.

Germline FH mutations presenting with pheochromocytoma.

Clark GR, Sciacovelli M, Gaude E, Walsh DM, Kirby G, Simpson MA, Trembath RC, Berg JN, Woodward ER, Kinning E, Morrison PJ, Frezza C, Maher ER.

J Clin Endocrinol Metab. 2014 Oct;99(10):E2046-50. doi: 10.1210/jc.2014-1659. Epub 2014 Jul 8.

PMID:
25004247
27.

Increased rate of phenocopies in all age groups in BRCA1/BRCA2 mutation kindred, but increased prospective breast cancer risk is confined to BRCA2 mutation carriers.

Evans DG, Ingham SL, Buchan I, Woodward ER, Byers H, Howell A, Maher ER, Newman WG, Lalloo F.

Cancer Epidemiol Biomarkers Prev. 2013 Dec;22(12):2269-76. doi: 10.1158/1055-9965.EPI-13-0316-T. Epub 2013 Nov 27.

28.

UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene.

Wake NC, Ricketts CJ, Morris MR, Prigmore E, Gribble SM, Skytte AB, Brown M, Clarke N, Banks RE, Hodgson S, Turnell AS, Maher ER, Woodward ER.

Hum Mutat. 2013 Dec;34(12):1650-61. doi: 10.1002/humu.22433. Epub 2013 Oct 7.

29.

A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

Rattenberry E, Vialard L, Yeung A, Bair H, McKay K, Jafri M, Canham N, Cole TR, Denes J, Hodgson SV, Irving R, Izatt L, Korbonits M, Kumar AV, Lalloo F, Morrison PJ, Woodward ER, Macdonald F, Wallis Y, Maher ER.

J Clin Endocrinol Metab. 2013 Jul;98(7):E1248-56. doi: 10.1210/jc.2013-1319. Epub 2013 May 10.

PMID:
23666964
30.

Genome-wide CpG island methylation analysis implicates novel genes in the pathogenesis of renal cell carcinoma.

Ricketts CJ, Morris MR, Gentle D, Brown M, Wake N, Woodward ER, Clarke N, Latif F, Maher ER.

Epigenetics. 2012 Mar;7(3):278-90. doi: 10.4161/epi.7.3.19103.

31.

Identification of BRCA1-deficient ovarian cancers.

Skytte AB, Waldstrøm M, Rasmussen AA, Crüger D, Woodward ER, Kølvraa S.

Acta Obstet Gynecol Scand. 2011 Jun;90(6):593-9. doi: 10.1111/j.1600-0412.2011.01121.x. Epub 2011 Apr 15.

PMID:
21371001
32.

Population-based survey of cancer risks in chromosome 3 translocation carriers.

Woodward ER, Skytte AB, Cruger DG, Maher ER.

Genes Chromosomes Cancer. 2010 Jan;49(1):52-8. doi: 10.1002/gcc.20718.

PMID:
19827124
33.

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER.

Hum Mutat. 2010 Jan;31(1):41-51. doi: 10.1002/humu.21136.

PMID:
19802898
34.

Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.

Woodward ER, Ricketts C, Killick P, Gad S, Morris MR, Kavalier F, Hodgson SV, Giraud S, Bressac-de Paillerets B, Chapman C, Escudier B, Latif F, Richard S, Maher ER.

Clin Cancer Res. 2008 Sep 15;14(18):5925-30. doi: 10.1158/1078-0432.CCR-08-0608.

35.

Germline SDHB mutations and familial renal cell carcinoma.

Ricketts C, Woodward ER, Killick P, Morris MR, Astuti D, Latif F, Maher ER.

J Natl Cancer Inst. 2008 Sep 3;100(17):1260-2. doi: 10.1093/jnci/djn254. Epub 2008 Aug 26.

PMID:
18728283
36.

Annual surveillance by CA125 and transvaginal ultrasound for ovarian cancer in both high-risk and population risk women is ineffective.

Woodward ER, Sleightholme HV, Considine AM, Williamson S, McHugo JM, Cruger DG.

BJOG. 2007 Dec;114(12):1500-9. Epub 2007 Sep 27.

37.

An epidemiological study of holoprosencephaly from a regional congenital anomaly register: 1995-2004.

Ong S, Tonks A, Woodward ER, Wyldes MP, Kilby MD.

Prenat Diagn. 2007 Apr;27(4):340-7.

PMID:
17286306
38.

VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.

Woodward ER, Wall K, Forsyth J, Macdonald F, Maher ER.

Brain. 2007 Mar;130(Pt 3):836-42. Epub 2007 Jan 29.

PMID:
17264095
39.

Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening.

Smith A, Moran A, Boyd MC, Bulman M, Shenton A, Smith L, Iddenden R, Woodward ER, Lalloo F, Maher ER, Evans DG.

J Med Genet. 2007 Jan;44(1):10-15. Epub 2006 Nov 1.

40.

Genotype-phenotype correlations in von Hippel-Lindau disease.

Ong KR, Woodward ER, Killick P, Lim C, Macdonald F, Maher ER.

Hum Mutat. 2007 Feb;28(2):143-9.

PMID:
17024664
41.

Von Hippel-Lindau disease and endocrine tumour susceptibility.

Woodward ER, Maher ER.

Endocr Relat Cancer. 2006 Jun;13(2):415-25. Review.

PMID:
16728571
42.

Familial non-syndromic clear cell renal cell carcinoma.

Woodward ER.

Curr Mol Med. 2004 Dec;4(8):843-8. Review.

PMID:
15579031
43.

Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.

Clifford SC, Cockman ME, Smallwood AC, Mole DR, Woodward ER, Maxwell PH, Ratcliffe PJ, Maher ER.

Hum Mol Genet. 2001 May 1;10(10):1029-38.

PMID:
11331613
44.

Germline SDHD mutation in familial phaeochromocytoma.

Astuti D, Douglas F, Lennard TW, Aligianis IA, Woodward ER, Evans DG, Eng C, Latif F, Maher ER.

Lancet. 2001 Apr 14;357(9263):1181-2.

PMID:
11323050
45.

Comparative sequence analysis of the VHL tumor suppressor gene.

Woodward ER, Buchberger A, Clifford SC, Hurst LD, Affara NA, Maher ER.

Genomics. 2000 May 1;65(3):253-65.

PMID:
10857749
46.
47.

Long-term consequences after jejunoileal bypass for morbid obesity.

Hocking MP, Davis GL, Franzini DA, Woodward ER.

Dig Dis Sci. 1998 Nov;43(11):2493-9.

PMID:
9824141
48.

Molecular genetic analysis of von Hippel-Lindau disease.

Richards FM, Webster AR, McMahon R, Woodward ER, Rose S, Maher ER.

J Intern Med. 1998 Jun;243(6):527-33. Review.

49.

A family with hereditary extra-adrenal paragangliomas without evidence for mutations in the von Hippel-Lindau disease or ret genes.

Sköldberg F, Grimelius L, Woodward ER, Rorsman F, Van Schothorst EW, Winqvist O, Karlsson FA, Akerström G, Kämpe O, Husebye ES.

Clin Endocrinol (Oxf). 1998 Jan;48(1):11-6.

PMID:
9509062
50.

Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

Woodward ER, Eng C, McMahon R, Voutilainen R, Affara NA, Ponder BA, Maher ER.

Hum Mol Genet. 1997 Jul;6(7):1051-6.

PMID:
9215674

Supplemental Content

Loading ...
Support Center