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Page 1
Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families.
Schreurs MAC, Schmidt MK, Hollestelle A, Schaapveld M; Hereditary Breast and Ovarian Cancer Research Group Netherlands; van Asperen CJ, Ausems MGEM, van de Beek I, Broekema MF, Collée JM, van der Hout AH, van Kaam KJAF, Komdeur FL, Mensenkamp AR, Adank MA, Hooning M. Schreurs MAC, et al. Genet Med. 2024 May 31:101171. doi: 10.1016/j.gim.2024.101171. Online ahead of print. Genet Med. 2024. PMID: 38828701
Long-term outcome of high-grade serous carcinoma established in risk-reducing salpingo-oophorectomy specimens in asymptomatic BRCA1/2 germline pathogenic variant carriers.
Stroot IAS, Bart J, Hollema H, Jalving M, Wagner MM, Yigit R, van Doorn HC, de Hullu JA, Gaarenstroom KN, van Beurden M, van Lonkhuijzen LRCW, Slangen BFM, Zweemer RP, Gómez García EB, Ausems MGEM, Boere IA, van Hest LP, Duijkers FAM, van Asperen CJ, Schmidt MK, Wevers MR, Ruijs MWG, Devilee P, Collée JM, Hebon Investigators, de Bock GH, Mourits MJE. Stroot IAS, et al. Among authors: devilee p. Gynecol Oncol. 2024 May 24;187:198-203. doi: 10.1016/j.ygyno.2024.05.024. Online ahead of print. Gynecol Oncol. 2024. PMID: 38795508 Free article.
Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction.
Yiangou K, Mavaddat N, Dennis J, Zanti M, Wang Q, Bolla MK, Abubakar M, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baten A, Behrens S, Bermisheva M, de Gonzalez AB, Białkowska K, Boddicker N, Bodelon C, Bogdanova NV, Bojesen SE, Brantley KD, Brauch H, Brenner H, Camp NJ, Canzian F, Castelao JE, Cessna MH, Chang-Claude J, Chenevix-Trench G, Chung WK; NBCS Collaborators; Colonna SV, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, Dunning AM, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Fletcher O, Flyger H, Fritschi L, Gago-Dominguez M, Gentry-Maharaj A, González-Neira A, Guénel P, Hahnen E, Haiman CA, Hamann U, Hartikainen JM, Ho V, Hodge J, Hollestelle A, Honisch E, Hooning MJ, Hoppe R, Hopper JL, Howell S, Howell A; ABCTB Investigators; kConFab Investigators; Jakovchevska S, Jakubowska A, Jernström H, Johnson N, Kaaks R, Khusnutdinova EK, Kitahara CM, Koutros S, Kristensen VN, Lacey JV, Lambrechts D, Lejbkowicz F, Lindblom A, Lush M, Mannermaa A, Mavroudis D, Menon U, Murphy RA, Nevanlinna H, Obi N, Offit K, Park-Simon TW, Patel AV, Peng C, Peterlongo P, Pita G, Plaseska-Karanfilska D,… See abstract for full author list ➔ Yiangou K, et al. Among authors: devilee p. medRxiv [Preprint]. 2024 Feb 13:2024.02.12.24302043. doi: 10.1101/2024.02.12.24302043. medRxiv. 2024. PMID: 38410445 Free PMC article. Preprint.
Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction.
Tüchler A, De Pauw A, Ernst C, Anota A, Lakeman IMM, Dick J, van der Stoep N, van Asperen CJ, Maringa M, Herold N, Blümcke B, Remy R, Westerhoff A, Stommel-Jenner DJ, Frouin E, Richters L, Golmard L, Kütting N, Colas C, Wappenschmidt B, Rhiem K, Devilee P, Stoppa-Lyonnet D, Schmutzler RK, Hahnen E. Tüchler A, et al. Among authors: devilee p. Breast. 2024 Feb;73:103615. doi: 10.1016/j.breast.2023.103615. Epub 2023 Nov 29. Breast. 2024. PMID: 38061307 Free PMC article.
Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
Wilcox N, Dumont M, González-Neira A, Carvalho S, Joly Beauparlant C, Crotti M, Luccarini C, Soucy P, Dubois S, Nuñez-Torres R, Pita G, Gardner EJ, Dennis J, Alonso MR, Álvarez N, Baynes C, Collin-Deschesnes AC, Desjardins S, Becher H, Behrens S, Bolla MK, Castelao JE, Chang-Claude J, Cornelissen S, Dörk T, Engel C, Gago-Dominguez M, Guénel P, Hadjisavvas A, Hahnen E, Hartman M, Herráez B; SGBCC Investigators; Jung A, Keeman R, Kiechle M, Li J, Loizidou MA, Lush M, Michailidou K, Panayiotidis MI, Sim X, Teo SH, Tyrer JP, van der Kolk LE, Wahlström C, Wang Q, Perry JRB, Benitez J, Schmidt MK, Schmutzler RK, Pharoah PDP, Droit A, Dunning AM, Kvist A, Devilee P, Easton DF, Simard J. Wilcox N, et al. Among authors: devilee p. Nat Genet. 2023 Nov;55(11):2009. doi: 10.1038/s41588-023-01549-x. Nat Genet. 2023. PMID: 37752376 Free PMC article. No abstract available.
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.
Sanoguera-Miralles L, Valenzuela-Palomo A, Bueno-Martínez E, Esteban-Sánchez A, Lorca V, Llinares-Burguet I, García-Álvarez A, Pérez-Segura P, Infante M, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco-Sampedro EA. Sanoguera-Miralles L, et al. Among authors: devilee p. Clin Chem. 2024 Jan 4;70(1):319-338. doi: 10.1093/clinchem/hvad125. Clin Chem. 2024. PMID: 37725924
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
Wilcox N, Dumont M, González-Neira A, Carvalho S, Joly Beauparlant C, Crotti M, Luccarini C, Soucy P, Dubois S, Nuñez-Torres R, Pita G, Gardner EJ, Dennis J, Alonso MR, Álvarez N, Baynes C, Collin-Deschesnes AC, Desjardins S, Becher H, Behrens S, Bolla MK, Castelao JE, Chang-Claude J, Cornelissen S, Dörk T, Engel C, Gago-Dominguez M, Guénel P, Hadjisavvas A, Hahnen E, Hartman M, Herráez B; SGBCC Investigators; Jung A, Keeman R, Kiechle M, Li J, Loizidou MA, Lush M, Michailidou K, Panayiotidis MI, Sim X, Teo SH, Tyrer JP, van der Kolk LE, Wahlström C, Wang Q, Perry JRB, Benitez J, Schmidt MK, Schmutzler RK, Pharoah PDP, Droit A, Dunning AM, Kvist A, Devilee P, Easton DF, Simard J. Wilcox N, et al. Among authors: devilee p. Nat Genet. 2023 Sep;55(9):1435-1439. doi: 10.1038/s41588-023-01466-z. Epub 2023 Aug 17. Nat Genet. 2023. PMID: 37592023 Free PMC article.
Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
Kentistou KA, Kaisinger LR, Stankovic S, Vaudel M, de Oliveira EM, Messina A, Walters RG, Liu X, Busch AS, Helgason H, Thompson DJ, Santon F, Petricek KM, Zouaghi Y, Huang-Doran I, Gudbjartsson DF, Bratland E, Lin K, Gardner EJ, Zhao Y, Jia R, Terao C, Riggan M, Bolla MK, Yazdanpanah M, Yazdanpanah N, Bradfield JP, Broer L, Campbell A, Chasman DI, Cousminer DL, Franceschini N, Franke LH, Girotto G, He C, Järvelin MR, Joshi PK, Kamatani Y, Karlsson R, Luan J, Lunetta KL, Mägi R, Mangino M, Medland SE, Meisinger C, Noordam R, Nutile T, Concas MP, Polašek O, Porcu E, Ring SM, Sala C, Smith AV, Tanaka T, van der Most PJ, Vitart V, Wang CA, Willemsen G, Zygmunt M, Ahearn TU, Andrulis IL, Anton-Culver H, Antoniou AC, Auer PL, Barnes CL, Beckmann MW, Berrington A, Bogdanova NV, Bojesen SE, Brenner H, Buring JE, Canzian F, Chang-Claude J, Couch FJ, Cox A, Crisponi L, Czene K, Daly MB, Demerath EW, Dennis J, Devilee P, Vivo I, Dörk T, Dunning AM, Dwek M, Eriksson JG, Fasching PA, Fernandez-Rhodes L, Ferreli L, Fletcher O, Gago-Dominguez M, García-Closas M, García-Sáenz JA, González-Neira A, Grallert H, Guénel P, Haiman CA, Hall P, Hamann U, Hakonarson H, Hart RJ, Hickey M, Hooning M… See abstract for full author list ➔ Kentistou KA, et al. Among authors: devilee p. medRxiv [Preprint]. 2023 Jun 20:2023.06.14.23291322. doi: 10.1101/2023.06.14.23291322. medRxiv. 2023. PMID: 37503126 Free PMC article. Preprint.
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel.
Levi H, Carmi S, Rosset S, Yerushalmi R, Zick A, Yablonski-Peretz T; BCAC Consortium; Wang Q, Bolla MK, Dennis J, Michailidou K, Lush M, Ahearn T, Andrulis IL, Anton-Culver H, Antoniou AC, Arndt V, Augustinsson A, Auvinen P, Beane Freeman L, Beckmann M, Behrens S, Bermisheva M, Bodelon C, Bogdanova NV, Bojesen SE, Brenner H, Byers H, Camp N, Castelao J, Chang-Claude J, Chirlaque MD, Chung W, Clarke C; NBCS Collaborators; Collee MJ, Colonna S; CTS Consortium; Couch F, Cox A, Cross SS, Czene K, Daly M, Devilee P, Dork T, Dossus L, Eccles DM, Eliassen AH, Eriksson M, Evans G, Fasching P, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, García-Closas M, Garcia-Saenz JA, Genkinger J, Giles GG, Goldberg M, Guénel P, Hall P, Hamann U, He W, Hillemanns P, Hollestelle A, Hoppe R, Hopper J; ABCTB Investigators; Jakovchevska S, Jakubowska A, Jernström H, John E, Johnson N, Jones M, Vijai J, Kaaks R, Khusnutdinova E, Kitahara C, Koutros S, Kristensen V, Kurian AW, Lacey J, Lambrechts D, Le Marchand L, Lejbkowicz F, Lindblom A, Loibl S, Lori A, Lubinski J, Mannermaa A, Manoochehri M, Mavroudis D, Menon U, Mulligan A, Murphy R, Nevelsteen I, Newman WG, Obi N, O'Brien K, … See abstract for full author list ➔ Levi H, et al. Among authors: devilee p. J Med Genet. 2023 Nov 27;60(12):1186-1197. doi: 10.1136/jmg-2023-109185. J Med Genet. 2023. PMID: 37451831 Free PMC article.
430 results