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Items: 1 to 50 of 974

1.

Should unaffected female BRCA2 pathogenic variant carriers be told there is little or no advantage from risk reducing mastectomy?

Evans DG, Howell SJ, Howell A.

Fam Cancer. 2019 Aug 23. doi: 10.1007/s10689-019-00142-8. [Epub ahead of print] No abstract available.

PMID:
31444676
2.

Neurofibromatosis type 2 and related disorders.

Halliday D, Parry A, Evans DG.

Curr Opin Oncol. 2019 Aug 16. doi: 10.1097/CCO.0000000000000579. [Epub ahead of print]

PMID:
31425178
3.

Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study.

Schrijver LH, Olsson H, Phillips KA, Terry MB, Goldgar DE, Kast K, Engel C, Mooij TM, Adlard J, Barrowdale D, Davidson R, Eeles R, Ellis S, Evans DG, Frost D, Izatt L, Porteous ME, Side LE, Walker L, Berthet P, Bonadona V, Leroux D, Mouret-Fourme E, Venat-Bouvet L, Buys SS, Southey MC, John EM, Chung WK, Daly MB, Bane A, van Asperen CJ, Gómez Garcia EB, Mourits MJE, van Os TAM, Roos-Blom MJ, Friedlander ML, McLachlan SA, Singer CF, Tan YY, Foretova L, Navratilova M, Gerdes AM, Caldes T, Simard J, Olah E, Jakubowska A, Arver B, Osorio A, Noguès C, Andrieu N, Easton DF, van Leeuwen FE, Hopper JL, Milne RL, Antoniou AC, Rookus MA; EMBRACE, GENEPSO, BCFR, HEBON, kConFab, and IBCCS.

JNCI Cancer Spectr. 2018 Jun 28;2(2):pky023. doi: 10.1093/jncics/pky023. eCollection 2018 Apr.

4.

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvänäinen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sánchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rødland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Möslein G, Mecklin JP, Nielsen M, Møller P.

Genet Med. 2019 Jul 24. doi: 10.1038/s41436-019-0596-9. [Epub ahead of print]

PMID:
31337882
5.

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.

Evans DG, Hartley CL, Smith PT, King AT, Bowers NL, Tobi S, Wallace AJ, Perry M, Anup R, Lloyd SKW, Rutherford SA, Hammerbeck-Ward C, Pathmanaban ON, Stapleton E, Freeman SR, Kellett M, Halliday D, Parry A, Gair JJ, Axon P, Laitt R, Thomas O, Afridi SK, Obholzer R; English Specialist NF research group, Duff C, Stivaros SM, Vassallo G, Harkness EF, Smith MJ.

Genet Med. 2019 Jul 5. doi: 10.1038/s41436-019-0598-7. [Epub ahead of print]

PMID:
31273341
6.

A case-control evaluation of 143 single nucleotide polymorphisms for breast cancer risk stratification with classical factors and mammographic density.

Brentnall AR, van Veen EM, Harkness EF, Rafiq S, Byers H, Astley SM, Sampson S, Howell A, Newman WG, Cuzick J, Evans DGR.

Int J Cancer. 2019 Jun 28. doi: 10.1002/ijc.32541. [Epub ahead of print]

PMID:
31251818
7.

The genetic interplay between body mass index, breast size and breast cancer risk: a Mendelian randomization analysis.

Ooi BNS, Loh H, Ho PJ, Milne RL, Giles G, Gao C, Kraft P, John EM, Swerdlow A, Brenner H, Wu AH, Haiman C, Evans DG, Zheng W, Fasching PA, Castelao JE, Kwong A, Shen X, Czene K, Hall P, Dunning A, Easton D, Hartman M, Li J.

Int J Epidemiol. 2019 Jun 26. pii: dyz124. doi: 10.1093/ije/dyz124. [Epub ahead of print]

8.

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.

Qian F, Rookus MA, Leslie G, Risch HA, Greene MH, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arnold N, Arun BK, Ausems MGEM, Azzollini J, Barrowdale D, Barwell J, Benitez J, Białkowska K, Bonadona V, Borde J, Borg A, Bradbury AR, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Carter J, Chiquette J, Chung WK, Claes KBM, Collée JM, Collonge-Rame MA, Couch FJ, Daly MB, Delnatte C, Diez O, Domchek SM, Dorfling CM, Eason J, Easton DF, Eeles R, Engel C, Evans DG, Faivre L, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Gehrig A, Glendon G, Godwin AK, Gómez Garcia EB, Hamann U, Hauke J, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, Janavicius R, John EM, Karlan BY, Kets CM, Laitman Y, Lázaro C, Leroux D, Lester J, Lesueur F, Loud JT, Lubiński J, Łukomska A, McGuffog L, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Mouret-Fourme E, Nathanson KL, Nehoray B, Neuhausen SL, Nevanlinna H, Nielsen FC, Offit K, Olah E, Ong KR, Oosterwijk JC, Ottini L, Parsons MT, Peterlongo P, Pfeiler G, Pradhan N, Radice P, Ramus SJ, Rantala J, Rennert G, Robson M, Rodriguez GC, Salani R, Scheuner MT, Schmutzler RK, Shah PD, Side LE, Simard J, Singer CF, Steinemann D, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Terry MB, Thomassen M, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Venat-Bouvet L, Vierstraete J, Wagner G, Walker L, Weitzel JN, Yannoukakos D; KConFab Investigators; HEBON Investigators; GEMO Study Collaborators; EMBRACE Collaborators, Antoniou AC, Goldgar DE, Olopade OI, Chenevix-Trench G, Rebbeck TR, Huo D; CIMBA.

Br J Cancer. 2019 Jul;121(2):180-192. doi: 10.1038/s41416-019-0492-8. Epub 2019 Jun 19.

PMID:
31213659
9.

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.

Suerink M, Rodríguez-Girondo M, van der Klift HM, Colas C, Brugieres L, Lavoine N, Jongmans M, Munar GC, Evans DG, Farrell MP, Genuardi M, Goldberg Y, Gomez-Garcia E, Heinimann K, Hoell JI, Aretz S, Jasperson KW, Kedar I, Modi MB, Nikolaev S, van Os TAM, Ripperger T, Rueda D, Senter L, Sjursen W, Sunde L, Therkildsen C, Tibiletti MG, Trainer AH, Vos YJ, Wagner A, Winship I, Wimmer K, Zimmermann SY, Vasen HF, van Asperen CJ, Houwing-Duistermaat JJ, Ten Broeke SW, Nielsen M.

Genet Med. 2019 Jun 17. doi: 10.1038/s41436-019-0577-z. [Epub ahead of print]

PMID:
31204389
10.

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, Faust U, Felbor U, Feroce I, Fine M, 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, Pérez-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, Tognazzo S, Toland AE, Tornero E, Törngren T, Torres-Esquius S, Toss A, Trainer AH, 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 May 27. doi: 10.1002/humu.23818. [Epub ahead of print]

PMID:
31131967
11.

Epithelial ovarian cancer risk: A review of the current genetic landscape.

Flaum N, Crosbie EJ, Edmondson RJ, Smith MJ, Evans DG.

Clin Genet. 2019 May 16. doi: 10.1111/cge.13566. [Epub ahead of print] Review.

PMID:
31099061
12.

The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis.

Ryan NAJ, Glaire MA, Blake D, Cabrera-Dandy M, Evans DG, Crosbie EJ.

Genet Med. 2019 May 14. doi: 10.1038/s41436-019-0536-8. [Epub ahead of print] Review.

PMID:
31086306
13.

Confirmation that somatic mutations of beta-2 microglobulin correlate with a lack of recurrence in a subset of stage II mismatch repair deficient colorectal cancers from the QUASAR trial.

Barrow P, Richman SD, Wallace AJ, Handley K, Hutchins GGA, Kerr D, Magill L, Evans DG, Gray R, Quirke P, Hill J.

Histopathology. 2019 Aug;75(2):236-246. doi: 10.1111/his.13895. Epub 2019 Jul 5.

14.

Cancer surveillance, obesity, and potential bias.

Renehan AG, Martin RM, Evans DG.

Lancet Public Health. 2019 May;4(5):e218. doi: 10.1016/S2468-2667(19)30058-1. No abstract available.

15.

Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer (COPE study).

Packwood K, Martland G, Sommerlad M, Shaw E, Moutasim K, Thomas G, Bateman AC, Jones L, Haywood L, Evans DG, Birch JM, Alsalmi OA, Henderson A, Poplawski N, Eccles DM.

J Pathol Clin Res. 2019 Jul;5(3):189-198. doi: 10.1002/cjp2.133. Epub 2019 May 23.

16.

[18F]fluorothymidine and [18F]fluorodeoxyglucose PET Imaging Demonstrates Uptake and Differentiates Growth in Neurofibromatosis 2 Related Vestibular Schwannoma.

Anton-Rodriguez JM, Lewis D, Djoukhadar I, Russell D, Julyan P, Coope D, King AT, Lloyd SKL, Evans DG, Jackson A, Matthews JC.

Otol Neurotol. 2019 Jul;40(6):826-835. doi: 10.1097/MAO.0000000000002272.

17.

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
18.

Final Results of the Prospective FH02 Mammographic Surveillance Study of Women Aged 35-39 at Increased Familial Risk of Breast Cancer.

Evans DG, Thomas S, Caunt J, Burch A, Brentnall AR, Roberts L, Howell A, Wilson M, Fox R, Hillier S, Sibbering DM, Moss S, Wallis MG, Eccles DM; FH02 study group, Duffy S.

EClinicalMedicine. 2019 Jan;7:39-46. doi: 10.1016/j.eclinm.2019.01.005.

19.

Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity.

Halliday D, Emmanouil B, Vassallo G, Lascelles K, Nicholson J, Chandratre S, Anand G, Wasik M, Pretorius P, Evans DG, Parry A; English NF2 research group.

Clin Genet. 2019 Aug;96(2):151-162. doi: 10.1111/cge.13551. Epub 2019 Apr 29.

PMID:
30993672
20.

Breast cancer pathology and stage are better predicted by risk stratification models that include mammographic density and common genetic variants.

Evans DGR, Harkness EF, Brentnall AR, van Veen EM, Astley SM, Byers H, Sampson S, Southworth J, Stavrinos P, Howell SJ, Maxwell AJ, Howell A, Newman WG, Cuzick J.

Breast Cancer Res Treat. 2019 Jul;176(1):141-148. doi: 10.1007/s10549-019-05210-2. Epub 2019 Apr 2.

21.

The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome.

Crosbie EJ, Ryan NAJ, Arends MJ, Bosse T, Burn J, Cornes JM, Crawford R, Eccles D, Frayling IM, Ghaem-Maghami S, Hampel H, Kauff ND, Kitchener HC, Kitson SJ, Manchanda R, McMahon RFT, Monahan KJ, Menon U, Møller P, Möslein G, Rosenthal A, Sasieni P, Seif MW, Singh N, Skarrott P, Snowsill TM, Steele R, Tischkowitz M; Manchester International Consensus Group, Evans DG.

Genet Med. 2019 Mar 28. doi: 10.1038/s41436-019-0489-y. [Epub ahead of print]

22.

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

Rauen KA, Alsaegh A, Ben-Shachar S, Berman Y, Blakeley J, Cordeiro I, Elgersma Y, Evans DG, Fisher MJ, Frayling IM, George J, Huson SM, Kerr B, Khire U, Korf B, Legius E, Messiaen L, van Minkelen R, Nampoothiri S, Ngeow J, Parada LF, Phadke S, Pillai A, Plotkin SR, Puri R, Raji A, Ramesh V, Ratner N, Shankar SP, Sharda S, Tambe A, Vikkula M, Widemann BC, Wolkenstein P, Upadhyaya M.

Am J Med Genet A. 2019 Jun;179(6):1091-1097. doi: 10.1002/ajmg.a.61125. Epub 2019 Mar 25.

PMID:
30908877
23.

From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.

Ferner RE, Bakker A, Elgersma Y, Evans DGR, Giovannini M, Legius E, Lloyd A, Messiaen LM, Plotkin S, Reilly KM, Schindeler A, Smith MJ, Ullrich NJ, Widemann B, Sherman LS.

Am J Med Genet A. 2019 Jun;179(6):1098-1106. doi: 10.1002/ajmg.a.61112. Epub 2019 Mar 25.

PMID:
30908866
24.

The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations.

Terry MB, Liao Y, Kast K, Antoniou AC, McDonald JA, Mooij TM, Engel C, Nogues C, Buecher B, Mari V, Moretta-Serra J, Gladieff L, Luporsi E, Barrowdale D, Frost D, Henderson A, Brewer C, Evans DG, Eccles D, Cook J, Ong KR, Izatt L, Ahmed M, Morrison PJ, Dommering CJ, Oosterwijk JC, Ausems MGEM, Kriege M, Buys SS, Andrulis IL, John EM, Daly M, Friedlander M, McLachlan SA, Osorio A, Caldes T, Jakubowska A, Simard J, Singer CF, Tan Y, Olah E, Navratilova M, Foretova L, Gerdes AM, Roos-Blom MJ, Arver B, Olsson H, Schmutzler RK, Hopper JL, van Leeuwen FE, Goldgar D, Milne RL, Easton DF, Rookus MA, Andrieu N; EMBRACE, GENEPSO, BCFR, HEBON, kConFab and IBCCS.

JNCI Cancer Spectr. 2018 Dec;2(4):pky078. doi: 10.1093/jncics/pky078. Epub 2019 Mar 8.

25.

A Micro-Costing Study of Screening for Lynch Syndrome-Associated Pathogenic Variants in an Unselected Endometrial Cancer Population: Cheap as NGS Chips?

Ryan NAJ, Davison NJ, Payne K, Cole A, Evans DG, Crosbie EJ.

Front Oncol. 2019 Feb 26;9:61. doi: 10.3389/fonc.2019.00061. eCollection 2019.

26.

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.

Seppälä TT, Ahadova A, Dominguez-Valentin M, Macrae F, Evans DG, Therkildsen C, Sampson J, Scott R, Burn J, Möslein G, Bernstein I, Holinski-Feder E, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Lautrup CK, Lindblom A, Plazzer JP, Winship I, Tjandra D, Katz LH, Aretz S, Hüneburg R, Holzapfel S, Heinimann K, Valle AD, Neffa F, Gluck N, de Vos Tot Nederveen Cappel WH, Vasen H, Morak M, Steinke-Lange V, Engel C, Rahner N, Schmiegel W, Vangala D, Thomas H, Green K, Lalloo F, Crosbie EJ, Hill J, Capella G, Pineda M, Navarro M, Blanco I, Ten Broeke S, Nielsen M, Ljungmann K, Nakken S, Lindor N, Frayling I, Hovig E, Sunde L, Kloor M, Mecklin JP, Kalager M, Møller P.

Hered Cancer Clin Pract. 2019 Feb 28;17:8. doi: 10.1186/s13053-019-0106-8. eCollection 2019.

27.

Women's perceptions of personalized risk-based breast cancer screening and prevention: An international focus group study.

Rainey L, Jervaeus A, Donnelly LS, Evans DG, Hammarström M, Hall P, Wengström Y, Broeders MJM, van der Waal D.

Psychooncology. 2019 May;28(5):1056-1062. doi: 10.1002/pon.5051. Epub 2019 Mar 25.

28.

Genome-wide association study of germline variants and breast cancer-specific mortality.

Escala-Garcia M, Guo Q, Dörk T, Canisius S, Keeman R, Dennis J, Beesley J, Lecarpentier J, Bolla MK, Wang Q, Abraham J, Andrulis IL, Anton-Culver H, Arndt V, Auer PL, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bernstein L, Blomqvist C, Boeckx B, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Brenner H, Brentnall A, Brinton L, Broberg P, Brock IW, Brucker SY, Burwinkel B, Caldas C, Caldés T, Campa D, Canzian F, Carracedo A, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Cheng TD, Chin SF, Clarke CL; NBCS Collaborators, Cordina-Duverger E, Couch FJ, Cox DG, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dunn JA, Dunning AM, Durcan L, Dwek M, Earl HM, Ekici AB, Eliassen AH, Ellberg C, Engel C, Eriksson M, Evans DG, Figueroa J, Flesch-Janys D, Flyger H, Gabrielson M, Gago-Dominguez M, Galle E, Gapstur SM, García-Closas M, García-Sáenz JA, Gaudet MM, George A, Georgoulias V, Giles GG, Glendon G, Goldgar DE, González-Neira A, Alnæs GIG, Grip M, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Hankinson S, Harkness EF, Harrington PA, Hart SN, Hartikainen JM, Hein A, Hillemanns P, Hiller L, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huang G, Humphreys K, Hunter DJ, Janni W, John EM, Jones ME, Jukkola-Vuorinen A, Jung A, Kaaks R, Kabisch M, Kaczmarek K, Kerin MJ, Khan S, Khusnutdinova E, Kiiski JI, Kitahara CM, Knight JA, Ko YD, Koppert LB, Kosma VM, Kraft P, Kristensen VN, Krüger U, Kühl T, Lambrechts D, Le Marchand L, Lee E, Lejbkowicz F, Li L, Lindblom A, Lindström S, Linet M, Lissowska J, Lo WY, Loibl S, Lubiński J, Lux MP, MacInnis RJ, Maierthaler M, Maishman T, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Mavroudis D, McLean C, Meindl A, Middha P, Miller N, Milne RL, Moreno F, Mulligan AM, Mulot C, Nassir R, Neuhausen SL, Newman WT, Nielsen SF, Nordestgaard BG, Norman A, Olsson H, Orr N, Pankratz VS, Park-Simon TW, Perez JIA, Pérez-Barrios C, Peterlongo P, Petridis C, Pinchev M, Prajzendanc K, Prentice R, Presneau N, Prokofieva D, Pylkäs K, Rack B, Radice P, Ramachandran D, Rennert G, Rennert HS, Rhenius V, Romero A, Roylance R, Saloustros E, Sawyer EJ, Schmidt DF, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schumacher F, Schwentner L, Scott RJ, Scott C, Seynaeve C, Shah M, Simard J, Smeets A, Sohn C, Southey MC, Swerdlow AJ, Talhouk A, Tamimi RM, Tapper WJ, Teixeira MR, Tengström M, Terry MB, Thöne K, Tollenaar RAEM, Tomlinson I, Torres D, Truong T, Turman C, Turnbull C, Ulmer HU, Untch M, Vachon C, van Asperen CJ, van den Ouweland AMW, van Veen EM, Wendt C, Whittemore AS, Willett W, Winqvist R, Wolk A, Yang XR, Zhang Y, Easton DF, Fasching PA, Nevanlinna H, Eccles DM, Pharoah PDP, Schmidt MK.

Br J Cancer. 2019 Mar;120(6):647-657. doi: 10.1038/s41416-019-0393-x. Epub 2019 Feb 21.

29.

Prediction of reader estimates of mammographic density using convolutional neural networks.

Ionescu GV, Fergie M, Berks M, Harkness EF, Hulleman J, Brentnall AR, Cuzick J, Evans DG, Astley SM.

J Med Imaging (Bellingham). 2019 Jul;6(3):031405. doi: 10.1117/1.JMI.6.3.031405. Epub 2019 Jan 31.

PMID:
30746393
30.

The association between weight at birth and breast cancer risk revisited using Mendelian randomisation.

Kar SP, Andrulis IL, Brenner H, Burgess S, Chang-Claude J, Considine D, Dörk T, Evans DGR, Gago-Domínguez M, Giles GG, Hartman M, Huo D, Kaaks R, Li J, Lophatananon A, Margolin S, Milne RL, Muir KR, Olsson H, Punie K, Radice P, Simard J, Tamimi RM, Van Nieuwenhuysen E, Wendt C, Zheng W, Pharoah PDP.

Eur J Epidemiol. 2019 Jun;34(6):591-600. doi: 10.1007/s10654-019-00485-7. Epub 2019 Feb 8.

31.

Phase 0 trial investigating the intratumoural concentration and activity of sorafenib in neurofibromatosis type 2.

Ammoun S, Evans DG, Hilton DA, Streeter A, Hayward C, Hanemann CO.

J Neurol Neurosurg Psychiatry. 2019 Feb 4. pii: jnnp-2018-319713. doi: 10.1136/jnnp-2018-319713. [Epub ahead of print] No abstract available.

PMID:
30718294
32.

Shared heritability and functional enrichment across six solid cancers.

Jiang X, Finucane HK, Schumacher FR, Schmit SL, Tyrer JP, Han Y, Michailidou K, Lesseur C, Kuchenbaecker KB, Dennis J, Conti DV, Casey G, Gaudet MM, Huyghe JR, Albanes D, Aldrich MC, Andrew AS, Andrulis IL, Anton-Culver H, Antoniou AC, Antonenkova NN, Arnold SM, Aronson KJ, Arun BK, Bandera EV, Barkardottir RB, Barnes DR, Batra J, Beckmann MW, Benitez J, Benlloch S, Berchuck A, Berndt SI, Bickeböller H, Bien SA, Blomqvist C, Boccia S, Bogdanova NV, Bojesen SE, Bolla MK, Brauch H, Brenner H, Brenton JD, Brook MN, Brunet J, Brunnström H, Buchanan DD, Burwinkel B, Butzow R, Cadoni G, Caldés T, Caligo MA, Campbell I, Campbell PT, Cancel-Tassin G, Cannon-Albright L, Campa D, Caporaso N, Carvalho AL, Chan AT, Chang-Claude J, Chanock SJ, Chen C, Christiani DC, Claes KBM, Claessens F, Clements J, Collée JM, Correa MC, Couch FJ, Cox A, Cunningham JM, Cybulski C, Czene K, Daly MB, deFazio A, Devilee P, Diez O, Gago-Dominguez M, Donovan JL, Dörk T, Duell EJ, Dunning AM, Dwek M, Eccles DM, Edlund CK, Edwards DRV, Ellberg C, Evans DG, Fasching PA, Ferris RL, Liloglou T, Figueiredo JC, Fletcher O, Fortner RT, Fostira F, Franceschi S, Friedman E, Gallinger SJ, Ganz PA, Garber J, García-Sáenz JA, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, Goode EL, Goodman MT, Goodman G, Grankvist K, Greene MH, Gronberg H, Gronwald J, Guénel P, Håkansson N, Hall P, Hamann U, Hamdy FC, Hamilton RJ, Hampe J, Haugen A, Heitz F, Herrero R, Hillemanns P, Hoffmeister M, Høgdall E, Hong YC, Hopper JL, Houlston R, Hulick PJ, Hunter DJ, Huntsman DG, Idos G, Imyanitov EN, Ingles SA, Isaacs C, Jakubowska A, James P, Jenkins MA, Johansson M, Johansson M, John EM, Joshi AD, Kaneva R, Karlan BY, Kelemen LE, Kühl T, Khaw KT, Khusnutdinova E, Kibel AS, Kiemeney LA, Kim J, Kjaer SK, Knight JA, Kogevinas M, Kote-Jarai Z, Koutros S, Kristensen VN, Kupryjanczyk J, Lacko M, Lam S, Lambrechts D, Landi MT, Lazarus P, Le ND, Lee E, Lejbkowicz F, Lenz HJ, Leslie G, Lessel D, Lester J, Levine DA, Li L, Li CI, Lindblom A, Lindor NM, Liu G, Loupakis F, Lubiński J, Maehle L, Maier C, Mannermaa A, Marchand LL, Margolin S, May T, McGuffog L, Meindl A, Middha P, Miller A, Milne RL, MacInnis RJ, Modugno F, Montagna M, Moreno V, Moysich KB, Mucci L, Muir K, Mulligan AM, Nathanson KL, Neal DE, Ness AR, Neuhausen SL, Nevanlinna H, Newcomb PA, Newcomb LF, Nielsen FC, Nikitina-Zake L, Nordestgaard BG, Nussbaum RL, Offit K, Olah E, Olama AAA, Olopade OI, Olshan AF, Olsson H, Osorio A, Pandha H, Park JY, Pashayan N, Parsons MT, Pejovic T, Penney KL, Peters WHM, Phelan CM, Phipps AI, Plaseska-Karanfilska D, Pring M, Prokofyeva D, Radice P, Stefansson K, Ramus SJ, Raskin L, Rennert G, Rennert HS, van Rensburg EJ, Riggan MJ, Risch HA, Risch A, Roobol MJ, Rosenstein BS, Rossing MA, De Ruyck K, Saloustros E, Sandler DP, Sawyer EJ, Schabath MB, Schleutker J, Schmidt MK, Setiawan VW, Shen H, Siegel EM, Sieh W, Singer CF, Slattery ML, Sorensen KD, Southey MC, Spurdle AB, Stanford JL, Stevens VL, Stintzing S, Stone J, Sundfeldt K, Sutphen R, Swerdlow AJ, Tajara EH, Tangen CM, Tardon A, Taylor JA, Teare MD, Teixeira MR, Terry MB, Terry KL, Thibodeau SN, Thomassen M, Bjørge L, Tischkowitz M, Toland AE, Torres D, Townsend PA, Travis RC, Tung N, Tworoger SS, Ulrich CM, Usmani N, Vachon CM, Van Nieuwenhuysen E, Vega A, Aguado-Barrera ME, Wang Q, Webb PM, Weinberg CR, Weinstein S, Weissler MC, Weitzel JN, West CML, White E, Whittemore AS, Wichmann HE, Wiklund F, Winqvist R, Wolk A, Woll P, Woods M, Wu AH, Wu X, Yannoukakos D, Zheng W, Zienolddiny S, Ziogas A, Zorn KK, Lane JM, Saxena R, Thomas D, Hung RJ, Diergaarde B, McKay J, Peters U, Hsu L, García-Closas M, Eeles RA, Chenevix-Trench G, Brennan PJ, Haiman CA, Simard J, Easton DF, Gruber SB, Pharoah PDP, Price AL, Pasaniuc B, Amos CI, Kraft P, Lindström S.

Nat Commun. 2019 Jan 25;10(1):431. doi: 10.1038/s41467-018-08054-4.

33.

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
34.

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
35.

Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

Evans DG, Howell SJ, Peltonen J.

JAMA Oncol. 2019 Jan 1;5(1):119-120. doi: 10.1001/jamaoncol.2018.6905. No abstract available.

PMID:
30629136
36.

Global Disparities in Breast Cancer Genetics Testing, Counselling and Management.

Yip CH, Evans DG, Agarwal G, Buccimazza I, Kwong A, Morant R, Prakash I, Song CY, Taib NA, Tausch C, Ung O, Meterissian S.

World J Surg. 2019 May;43(5):1264-1270. doi: 10.1007/s00268-018-04897-6. Review.

PMID:
30610270
37.

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
38.

Computational Study of the Driving Forces and Dynamics of Curcumin Binding to Amyloid-β Protofibrils.

Martin TD, Malagodi AJ, Chi EY, Evans DG.

J Phys Chem B. 2019 Jan 24;123(3):551-560. doi: 10.1021/acs.jpcb.8b09185. Epub 2019 Jan 9.

PMID:
30571122
39.

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

Mavaddat N, Michailidou K, Dennis J, Lush M, Fachal L, Lee A, Tyrer JP, Chen TH, Wang Q, Bolla MK, Yang X, Adank MA, Ahearn T, Aittomäki K, Allen J, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Auer PL, Auvinen P, Barrdahl M, Beane Freeman LE, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bernstein L, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Bremer M, Brenner H, Brentnall A, Brock IW, Brooks-Wilson A, Brucker SY, Brüning T, Burwinkel B, Campa D, Carter BD, Castelao JE, Chanock SJ, Chlebowski R, Christiansen H, Clarke CL, Collée JM, Cordina-Duverger E, Cornelissen S, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, Dos-Santos-Silva I, Dumont M, Durcan L, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Engel C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fletcher O, Flyger H, Försti A, Fritschi L, Gabrielson M, Gago-Dominguez M, Gapstur SM, García-Sáenz JA, Gaudet MM, Georgoulias V, Giles GG, Gilyazova IR, Glendon G, Goldberg MS, Goldgar DE, González-Neira A, Grenaker Alnæs GI, Grip M, Gronwald J, Grundy A, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hankinson SE, Harkness EF, Hart SN, He W, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huang G, Humphreys K, Hunter DJ, Jakimovska M, Jakubowska A, Janni W, John EM, Johnson N, Jones ME, Jukkola-Vuorinen A, Jung A, Kaaks R, Kaczmarek K, Kataja V, Keeman R, Kerin MJ, Khusnutdinova E, Kiiski JI, Knight JA, Ko YD, Kosma VM, Koutros S, Kristensen VN, Krüger U, Kühl T, Lambrechts D, Le Marchand L, Lee E, Lejbkowicz F, Lilyquist J, Lindblom A, Lindström S, Lissowska J, Lo WY, Loibl S, Long J, Lubiński J, Lux MP, MacInnis RJ, Maishman T, Makalic E, Maleva Kostovska I, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Martinez ME, Mavroudis D, McLean C, Meindl A, Menon U, Middha P, Miller N, Moreno F, Mulligan AM, Mulot C, Muñoz-Garzon VM, Neuhausen SL, Nevanlinna H, Neven P, Newman WG, Nielsen SF, Nordestgaard BG, Norman A, Offit K, Olson JE, Olsson H, Orr N, Pankratz VS, Park-Simon TW, Perez JIA, Pérez-Barrios C, Peterlongo P, Peto J, Pinchev M, Plaseska-Karanfilska D, Polley EC, Prentice R, Presneau N, Prokofyeva D, Purrington K, Pylkäs K, Rack B, Radice P, Rau-Murthy R, Rennert G, Rennert HS, Rhenius V, Robson M, Romero A, Ruddy KJ, Ruebner M, Saloustros E, Sandler DP, Sawyer EJ, Schmidt DF, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schumacher F, Schürmann P, Schwentner L, Scott C, Scott RJ, Seynaeve C, Shah M, Sherman ME, Shrubsole MJ, Shu XO, Slager S, Smeets A, Sohn C, Soucy P, Southey MC, Spinelli JJ, Stegmaier C, Stone J, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Thöne K, Tollenaar RAEM, Tomlinson I, Truong T, Tzardi M, Ulmer HU, Untch M, Vachon CM, van Veen EM, Vijai J, Weinberg CR, Wendt C, Whittemore AS, Wildiers H, Willett W, Winqvist R, Wolk A, Yang XR, Yannoukakos D, Zhang Y, Zheng W, Ziogas A; ABCTB Investigators; kConFab/AOCS Investigators; NBCS Collaborators, Dunning AM, Thompson DJ, Chenevix-Trench G, Chang-Claude J, Schmidt MK, Hall P, Milne RL, Pharoah PDP, Antoniou AC, Chatterjee N, Kraft P, García-Closas M, Simard J, Easton DF.

Am J Hum Genet. 2019 Jan 3;104(1):21-34. doi: 10.1016/j.ajhg.2018.11.002. Epub 2018 Dec 13.

40.

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.

Frayling IM, Mautner VF, van Minkelen R, Kallionpaa RA, Aktaş S, Baralle D, Ben-Shachar S, Callaway A, Cox H, Eccles DM, Ferkal S, LaDuca H, Lázaro C, Rogers MT, Stuenkel AJ, Summerour P, Varan A, Yap YS, Zehou O, Peltonen J, Evans DG, Wolkenstein P, Upadhyaya M.

J Med Genet. 2019 Apr;56(4):209-219. doi: 10.1136/jmedgenet-2018-105599. Epub 2018 Dec 10.

PMID:
30530636
41.

Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing.

Evans DG, King AT, Bowers NL, Tobi S, Wallace AJ, Perry M, Anup R, Lloyd SKL, Rutherford SA, Hammerbeck-Ward C, Pathmanaban ON, Stapleton E, Freeman SR, Kellett M, Halliday D, Parry A, Gair JJ, Axon P, Laitt R, Thomas O, Afridi S, Ferner RE, Harkness EF, Smith MJ; English Specialist NF2 Research Group.

Genet Med. 2019 Jul;21(7):1525-1533. doi: 10.1038/s41436-018-0384-y. Epub 2018 Dec 7.

PMID:
30523344
42.

Gene panel testing for breast cancer should not be used to confirm syndromic gene associations.

Evans DG, Howell SJ, Frayling IM, Peltonen J.

NPJ Genom Med. 2018 Nov 26;3:32. doi: 10.1038/s41525-018-0071-6. eCollection 2018. No abstract available.

43.

C2 neurofibromas in neurofibromatosis type 1: genetic and imaging characteristics.

Waqar M, Huson S, Evans DG, Ealing J, Karabatsou K, George KJ, Soh C.

J Neurosurg Spine. 2018 Oct 19;30(1):126-132. doi: 10.3171/2018.7.SPINE171340.

PMID:
30485203
44.

Characterization of tear production in subjects with dry eye disease during intranasal tear neurostimulation: Results from two pivotal clinical trials.

Sheppard JD, Torkildsen GL, Geffin JA, Dao J, Evans DG, Ousler GW, Wilson J, Baba SN, Senchyna M, Holland EJ.

Ocul Surf. 2019 Jan;17(1):142-150. doi: 10.1016/j.jtos.2018.11.009. Epub 2018 Nov 22.

45.

Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations.

Singer CF, Balmaña J, Bürki N, Delaloge S, Filieri ME, Gerdes AM, Grindedal EM, Han S, Johansson O, Kaufman B, Krajc M, Loman N, Olah E, Paluch-Shimon S, Plavetic ND, Pohlodek K, Rhiem K, Teixeira M, Evans DG.

Eur J Cancer. 2019 Jan;106:54-60. doi: 10.1016/j.ejca.2018.10.007. Epub 2018 Nov 22.

46.

European Breast Cancer Council manifesto 2018: Genetic risk prediction testing in breast cancer.

Rutgers E, Balmana J, Beishon M, Benn K, Evans DG, Mansel R, Pharoah P, Perry Skinner V, Stoppa-Lyonnet D, Travado L, Wyld L.

Eur J Cancer. 2019 Jan;106:45-53. doi: 10.1016/j.ejca.2018.09.019. Epub 2018 Nov 22.

PMID:
30471647
47.

Lifestyle behaviours and health measures of women at increased risk of breast cancer taking chemoprevention.

Pegington M, Evans DG, Howell A, Donnelly LS, Wiseman J, Cuzick JM, Harvie MN.

Eur J Cancer Prev. 2018 Nov 15. doi: 10.1097/CEJ.0000000000000493. [Epub ahead of print]

PMID:
30444752
48.

Inflammation and vascular permeability correlate with growth in sporadic vestibular schwannoma.

Lewis D, Roncaroli F, Agushi E, Mosses D, Williams R, Li KL, Zhu X, Hinz R, Atkinson R, Wadeson A, Hulme S, Mayers H, Stapleton E, Lloyd SKL, Freeman SR, Rutherford SA, Hammerbeck-Ward C, Evans DG, Pathmanaban O, Jackson A, King AT, Coope DJ.

Neuro Oncol. 2019 Feb 19;21(3):314-325. doi: 10.1093/neuonc/noy177.

49.

Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene.

Evans DG, Wallace AJ, Hartley C, Freeman SR, Lloyd SK, Thomas O, Axon P, Hammerbeck-Ward CL, Pathmanaban O, Rutherford SA, Kellett M, Laitt R, King AT, Bischetsrieder J, Blakeley J, Smith MJ.

Laryngoscope. 2019 Apr;129(4):967-973. doi: 10.1002/lary.27554. Epub 2018 Oct 16.

50.

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Qian F, Wang S, Mitchell J, McGuffog L, Barrowdale D, Leslie G, Oosterwijk JC, Chung WK, Evans DG, Engel C, Kast K, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Arun BK, Ausems MGEM, Azzollini J, Barouk-Simonet E, Barwell J, Belotti M, Benitez J, Berger A, Borg A, Bradbury AR, Brunet J, Buys SS, Caldes T, Caligo MA, Campbell I, Caputo SM, Chiquette J, Claes KBM, Margriet Collée J, Couch FJ, Coupier I, Daly MB, Davidson R, Diez O, Domchek SM, Donaldson A, Dorfling CM, Eeles R, Feliubadaló L, Foretova L, Fowler J, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Glendon G, Godwin AK, Gómez Garcia EB, Gronwald J, Hahnen E, Hamann U, Henderson A, Hendricks CB, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Izquierdo Á, Jakubowska A, Kaczmarek K, Kang E, Karlan BY, Kets CM, Kim SW, Kim Z, Kwong A, Laitman Y, Lasset C, Hyuk Lee M, Won Lee J, Lee J, Lester J, Lesueur F, Loud JT, Lubinski J, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Morrison PJ, Mouret-Fourme E, Nathanson KL, Neuhausen SL, Nevanlinna H, Niederacher D, Nielsen FC, Nussbaum RL, Offit K, Olah E, Ong KR, Ottini L, Park SK, Peterlongo P, Pfeiler G, Phelan CM, Poppe B, Pradhan N, Radice P, Ramus SJ, Rantala J, Robson M, Rodriguez GC, Schmutzler RK, Hutten Selkirk CG, Shah PD, Simard J, Singer CF, Sokolowska J, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira RM, Teo SH, Terry MB, Thomassen M, Tischkowitz M, Toland AE, Tucker KM, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Yannoukakos D; GEMO Study Collaborators; HEBON; EMBRACE, Greene MH, Rookus MA, Easton DF, Chenevix-Trench G, Antoniou AC, Goldgar DE, Olopade OI, Rebbeck TR, Huo D.

J Natl Cancer Inst. 2019 Apr 1;111(4):350-364. doi: 10.1093/jnci/djy132.

PMID:
30312457

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