Recent publications by the MyPeBS team

We are proud to share these recent relevant publications by the teams involved in MyPeBS consortium

Harry de Koning and team (lead WP4 of MyPeBS) have recently published in the New England Journal of Medicine the final (and very expected) results of the NELSON trial, one of the 2 worldwide trials of lung cancer screening. The next step is a EU-funded large European risk-based lung cancer screening study called 4-IN-THE-LUNG-RUN.

de Koning HJ, van der Aalst CM, de Jong PA, et al. Reduced Lung-Cancer Mortality with Volume CT Screening in a Randomized Trial. N Engl J Med. 2020;382(6):503–513. doi:10.1056/NEJMoa1911793

The EU-TOPIA consortium has published a large updated evaluation of mammographic breast cancer screening benefits in Europe

Zielonke N, Gini A, Jansen EEL, et al. Evidence for reducing cancer-specific mortality due to screening for breast cancer in Europe: A systematic review. Eur J Cancer. 2020;127:191–206. doi:10.1016/j.ejca.2019.12.010

Michal Guindy and colleagues have recently published a large study describing the performance of a new AI system in breast cancer diagnosis on screening mammograms

Akselrod-Ballin A, Chorev M, Shoshan Y, et al. Predicting Breast Cancer by Applying Deep Learning to Linked Health Records and Mammograms. Radiology. 2019;292(2):331–342. doi:10.1148/radiol.2019182622

Fiona Gilbert is an important contributor of this recent major paper on the same topic

McKinney SM, Sieniek M, Godbole V, et al. International evaluation of an AI system for breast cancer screening. Nature. 2020;577(7788):89–94. doi:10.1038/s41586-019-1799-6

Gareth Evans has participated or led important contributions to the breast cancer risk assessment and prevention field:

Yang X, Leslie G, Doroszuk A, et al. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. J Clin Oncol. 2020;38(7):674–685. doi:10.1200/JCO.19.01907

Cuzick J, Sestak I, Forbes JF, et al. Use of anastrozole for breast cancer prevention (IBIS-II): long-term results of a randomised controlled trial [published correction appears in Lancet. 2020 Feb 15;395(10223):496]. Lancet. 2020;395(10218):117–122. doi:10.1016/S0140-6736(19)32955-1

Harvie M, Pegington M, French D, et al. Breast cancer risk status influences uptake, retention and efficacy of a weight loss programme amongst breast cancer screening attendees: two randomised controlled feasibility trials. BMC Cancer. 2019;19(1):1089. Published 2019 Dec 4. doi:10.1186/s12885-019-6279-8

Evans DG, Howell SJ, Howell A. New evidence confirms that reproductive risk factors can be used to stratify breast cancer risks: Implications for a new population screening paradigm. Eur J Cancer. 2020;124:204–206. doi:10.1016/j.ejca.2019.10.012

Cambridge teams have published important contribution to the Breast Cancer risk, genetics and prevention field:

Papadimitriou N, Dimou N, Tsilidis KK, et al. Physical activity and risks of breast and colorectal cancer: a Mendelian randomisation analysis. Nat Commun. 2020;11(1):597. Published 2020 Jan 30. doi:10.1038/s41467-020-14389-8

Yang X, Song H, Leslie G, et al. Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D [published online ahead of print, 2020 Feb 28]. J Natl Cancer Inst. 2020;djaa030. doi:10.1093/jnci/djaa030

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.

Assessment of interactions between 205 breast cancer susceptibility loci and 13 established risk factors in relation to breast cancer risk, in the Breast Cancer Association Consortium. Kapoor PM, Lindström S, Behrens S, Wang X, Michailidou K, Bolla MK, Wang Q, Dennis J, Dunning AM, Pharoah PDP, Schmidt MK, Kraft P, García-Closas M, Easton DF, Milne RL, Chang-Claude J; Breast Cancer Association Consortium. Int J Epidemiol. 2019 Oct 12. pii: dyz193. doi: 10.1093/ije/dyz193.

Methods for Development of the European Commission Initiative on Breast Cancer Guidelines: Recommendations in the Era of Guideline Transparency.

Schünemann HJ, Lerda D, Dimitrova N, Alonso-Coello P, Gräwingholt A, Quinn C, Follmann M, Mansel R, Sardanelli F, Rossi PG, Lebeau A, Nyström L, Broeders M, Ioannidou-Mouzaka L, Duffy SW, Borisch B, Fitzpatrick P, Hofvind S, Castells X, Giordano L, Warman S, Saz-Parkinson Z; European Commission Initiative on Breast Cancer Contributor Group. Ann Intern Med. 2019 Jul 23. doi: 10.7326/M18-3445.

Improving Workflow Efficiency for Mammography Using Machine Learning.

Kyono T, Gilbert FJ, van der Schaar M. J Am Coll Radiol. 2019 May 30. pii: S1546-1440(19)30596-4

Artificial intelligence and breast screening: French Radiology Community position paper.

Thomassin-Naggara I, Balleyguier C, Ceugnart L, Heid P, Lenczner G, Maire A, Séradour B, Verzaux L, Taourel P; Conseil national professionnel de la radiologie et imagerie médicale (G4).

Diagn Interv Imaging. 2019 Oct;100(10):553-566

Preoperative Breast Magnetic Resonance Imaging in Women With Local Ductal Carcinoma in Situ to Optimize Surgical Outcomes: Results From the Randomized Phase III Trial IRCIS.

Balleyguier C, Dunant A, Ceugnart L, Kandel M, Chauvet MP, Chérel P, Mazouni C, Henrot P, Rauch P, Chopier J, Zilberman S, Doutriaux-Dumoulin I, Jaffre I, Jalaguier A, Houvenaeghel G, Guérin N, Callonnec F, Chapellier C, Raoust I, Mathieu MC, Rimareix F, Bonastre J, Garbay JR. J Clin Oncol. 2019 Apr 10;37(11):885-892.

All-cause mortality versus cancer-specific mortality as outcome in cancer screening trials: A review and modeling study.

Heijnsdijk EAM, Csanádi M, Gini A, Ten Haaf K, Bendes R, Anttila A, Senore C, de Koning HJ. Cancer Med. 2019 Oct;8(13):6127-6138. doi: 10.1002/cam4.2476. Epub 2019 Aug 18.

Effect of screening mammography on breast cancer mortality: Quasi-experimental evidence from rollout of the Dutch population-based program with 17-year follow-up of a cohort.

Van Ourti T, O’Donnell O, Koç H, Fracheboud J, de Koning HJ. Int J Cancer. 2019 Jul 22. doi: 10.1002/ijc.32584. [Epub ahead of print]

The influence of health systems on breast, cervical and colorectal cancer screening: an overview of systematic reviews using health systems and implementation research frameworks.

Priaulx J, Turnbull E, Heijnsdijk E, Csanádi M, Senore C, de Koning HJ, McKee M. J Health Serv Res Policy. 2019 Jul 8:1355819619842314. doi: 10.1177/1355819619842314. [Epub ahead of print] No abstract available.

MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc): a multicentre, randomised, controlled trial.

Saadatmand S, Geuzinge HA, Rutgers EJT, Mann RM, de Roy van Zuidewijn DBW, Zonderland HM, Tollenaar RAEM, Lobbes MBI, Ausems MGEM, van ‘t Riet M, Hooning MJ, Mares-Engelberts I, Luiten EJT, Heijnsdijk EAM, Verhoef C, Karssemeijer N, Oosterwijk JC, Obdeijn IM, de Koning HJ, Tilanus-Linthorst MMA; FaMRIsc study group. Lancet Oncol. 2019 Aug;20(8):1136-1147. doi: 10.1016/S1470-2045(19)30275-X. Epub 2019 Jun 17.

The WISDOM Personalized Breast Cancer Screening Trial: Simulation Study to Assess Potential Bias and Analytic Approaches.

Eklund M, Broglio K, Yau C, Connor JT, Stover Fiscalini A, Esserman LJ. JNCI Cancer Spectr. 2019 Jan 8;2(4):pky067.

Attitudes towards risk-stratified breast cancer screening among women in England: A cross-sectional survey.

Ghanouni A, Sanderson SC, Pashayan N, Renzi C, von Wagner C, Waller J. J Med Screen. 2019 Nov 8. doi: 10.1177/0969141319883662.


Manchester team highlighted for the first time, the ability of a risk model (Tyrer Cuzick) including density and SNPs not only to predict for breast cancer risk, but also to for aggressive cancer. This paper is very relevant for MyPeBs trial! They also participated in a large international, well documented assessment of women’s perceptions of personalized screening, of great value for MyPeBS project.

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 Apr 2. doi: 10.1007/s10549-019-05210-2. [Epub ahead of print]

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 Mar 7. doi: 10.1002/pon.5051. [Epub ahead of print]


Gustave Roussy/Inserm team demonstrated for the first time that BMI is specifically associated with the risk of advanced breast cancer. This finding have potential implications for risk stratification in MyPeBS as well as prevention impact!

Modifiable risk factors for advanced versus early breast cancer in the French E3N cohort.

Veron L, Gelot A, Gusto G, Arveux P, Delaloge S, Boutron-Ruault MC. Int J Cancer. 2019 Apr 19. doi: 10.1002/ijc.32354. [Epub ahead of print]


Many of our MyPeBS teams, as well as numerous other great European and American scientists dedicated to risk, screening and prevention of breast cancer, have signed together this position paper in favour of personalised prevention

A response to “Personalised medicine and population health: breast and ovarian cancer”.

Antoniou A, Anton-Culver H, Borowsky A, Broeders M, Brooks J, Chiarelli A, Chiquette J, Cuzick J, Delaloge S, Devilee P, Dorval M, Easton D, Eisen A, Eklund M, Eloy L, Esserman L, Garcia-Closas M, Goldgar D, Hall P, Knoppers BM, Kraft P, La Croix A, Madalensky L, Mavaddat N, Mittman N, Nabi H, Olopade O, Pashayan N, Schmidt M, Shieh Y, Simard J, Stover-Fiscallini A, Tice JA, Van’t Veer L, Wenger N, Wolfson M, Yau C, Ziv E.Hum Genet. 2019 Mar;138(3):287-289. doi: 10.1007/s00439-019-01984-z. Epub 2019 Feb 27. No abstract available.


Two large new and important publications which further refine germline variants associated with breast cancer, have been recently released. Mavaddat et al have searched for the most predictive PRS associated to breast cancer risk and highlighted a 313 SNP score, which could be validated in 10 independent cohorts as well on the UK biobank cohort. This 313 SNP score is the one used in MyPeBS trial! This score has also been incorporated in a model using the Bodicea risk score (Lee et al)

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.

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.

BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors.

Lee A, Mavaddat N, Wilcox AN, Cunningham AP, Carver T, Hartley S, Babb de Villiers C, Izquierdo A, Simard J, Schmidt MK, Walter FM, Chatterjee N, Garcia-Closas M, Tischkowitz M, Pharoah P, Easton DF, Antoniou AC.Genet Med. 2019 Jan 15. doi: 10.1038/s41436-018-0406-9.


Our UK, French and Italian colleagues from MyPeBS consortium have recently published new data with relevance for our trial, regarding breast mammographic density assessment, value of screening tomosynthesis as well as performances and uptake of current screening

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.

A new automated method to evaluate 2D mammographic breast density according to BI-RADS® Atlas Fifth Edition recommendations.

Balleyguier C, Arfi-Rouche J, Boyer B, Gauthier E, Helin V, Loshkajian A, Ragusa S, Delaloge S. Eur Radiol. 2019 Feb 15. doi: 10.1007/s00330-019-06016-y. [Epub ahead of print]

Annual mammography at age 45-49 years and biennial mammography at age 50-69 years: comparing performance measures in an organised screening setting.

Bucchi L, Ravaioli A, Baldacchini F, Giuliani O, Mancini S, Vattiato R, Falcini F, Giorgi Rossi P, Campari C, Canuti D, Di Felice E, Sassoli de Bianchi P, Ferretti S, Bertozzi N; Emilia-Romagna Region Workgroup for Mammography Screening Evaluation.Eur Radiol. 2019 Mar 18. doi: 10.1007/s00330-019-06050-w. [Epub ahead of print]

Comparing two visualization protocols for tomosynthesis in screening: specificity and sensitivity of slabs versus planes plus slabs.

Iotti V, Giorgi Rossi P, Nitrosi A, Ravaioli S, Vacondio R, Campari C, Marchesi V, Ragazzi M, Bertolini M, Besutti G, Mori CA, Pattacini P; RETomo Working Group.Eur Radiol. 2019 Feb 8. do16.

Geographical and socioeconomic differences in uptake of Pap test and mammography in Italy: results from the National Health Interview Survey.

Petrelli A, Giorgi Rossi P, Francovich L, Giordani B, Di Napoli A, Zappa M, Mirisola C, Gargiulo L. BMJ Open. 2018 Sep 19;8(9):e021653. doi: 10.1136/bmjopen-2018-021653. i: 10.1007/s00330-018-5978-x. [Epub ahead of print]

Digital Mammography versus Digital Mammography Plus Tomosynthesis for Breast Cancer Screening: The Reggio Emilia Tomosynthesis Randomized Trial.

Pattacini P, Nitrosi A, Giorgi Rossi P, Iotti V, Ginocchi V, Ravaioli S, Vacondio R, Braglia L, Cavuto S, Campari C; RETomo Working Group. Radiology. 2018 Aug;288(2):375-385. doi: 10.1148/radiol.2018172119. Epub 2018 Jun 5.