Recent publications by the MyPeBS team

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

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.