Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.

Autor: Lakeman IMM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Rodríguez-Girondo MDM; Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands., Lee A; Public Health and Primary Care, University of Cambridge Centre for Cancer Genetic Epidemiology, Cambridge, UK., Celosse N; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Braspenning ME; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., van Engelen K; Department of Human Genetics, Amsterdam UMC Locatie VUmc, Amsterdam, The Netherlands., van de Beek I; Department of Human Genetics, Amsterdam UMC Locatie VUmc, Amsterdam, The Netherlands., van der Hout AH; Department of Clinical Genetics, University Medical Centre Groningen, Groningen, The Netherlands., Gómez García EB; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands., Mensenkamp AR; Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands., Ausems MGEM; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Hooning MJ; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus Medical Center, Rotterdam, The Netherlands., Adank MA; Family Cancer Clinic, Antoni van Leeuwenhoek Netherlands Cancer Institute, Amsterdam, The Netherlands., Hollestelle A; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus Medical Center, Rotterdam, The Netherlands., Schmidt MK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Division of Psychosocial Research and Epidemiology, Antoni van Leeuwenhoek Netherlands Cancer Institute, Amsterdam, The Netherlands., van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Devilee P; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands p.devilee@lumc.nl.; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.

Publikováno v: Journal of medical genetics [J Med Genet] 2023 Apr; Vol. 60 (4), pp. 327-336. Date of Electronic Publication: 2022 Sep 22.

Molecular and In Silico Analysis of the CHEK2 Gene in Individuals with High Risk of Cancer Predisposition from Türkiye.

Autor: Ozdemir, Ozkan^1,2 (AUTHOR) gizem.senturk@live.acibadem.edu.tr, Bychkovsky, Brittany L.^3,4,5 (AUTHOR), Unal, Busra⁶ (AUTHOR) busraunalbav@gmail.com, Onder, Gizem^2,7 (AUTHOR) ufukamanvermez@gmail.com, Amanvermez, Ufuk^2,8 (AUTHOR) eylul.aydin@live.acibadem.edu.tr, Aydin, Eylul^2,8 (AUTHOR) ilayda.sahin@live.acibadem.edu.tr, Ergun, Berk⁹ (AUTHOR) berk.ergun@live.com, Sahin, Ilayda^2,10 (AUTHOR) ugur.ozbek@ibg.edu.tr, Gokbayrak, Merve¹¹ (AUTHOR) merve_ertan09@hotmail.com, Ugurtas, Cansu¹¹ (AUTHOR) cansu.ugurtas@gmail.com, Koroglu, Merve Nur¹² (AUTHOR) mervenurelif@gmail.com, Cakir, Berfin¹³ (AUTHOR) berfin.cakir@bilgiedu.net, Kalay, Irem⁶ (AUTHOR) dr.iremgenetic@gmail.com, Cine, Naci¹¹ (AUTHOR) nacicine@yahoo.com, Ozbek, Ugur^2,14 (AUTHOR), Rana, Huma Q.^3,4,5 (AUTHOR), Hatirnaz Ng, Ozden^1,2 (AUTHOR) ozden.hatirnaz@acibadem.edu.tr, Agaoglu, Nihat Bugra^3,6,15 (AUTHOR) ozden.hatirnaz@acibadem.edu.tr

Publikováno v: Cancers. Nov2024, Vol. 16 Issue 22, p3876. 17p.

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.

Autor: Boonen RACM; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands., Rodrigue A; CHU de Québec-Université Laval Research Center, Oncology Division, Québec City, QC, G1R 3S3, Canada.; Department of Molecular Biology, Medical Biochemistry and Pathology, Laval University Cancer Research Center, Québec City, QC, G1V 0A6, Canada., Stoepker C; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands., Wiegant WW; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands., Vroling B; Bio-Prodict, Nijmegen, 6511 AA, The Netherlands., Sharma M; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands., Rother MB; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands., Celosse N; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands., Vreeswijk MPG; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands., Couch F; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA., Simard J; CHU de Québec-Université Laval Research Center, Oncology Division, Québec City, QC, G1R 3S3, Canada.; CHU de Québec Research Center, Endocrinology and Nephrology Division, Québec City, QC, G1V 4G2, Canada., Devilee P; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands.; Department of Pathology, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands., Masson JY; CHU de Québec-Université Laval Research Center, Oncology Division, Québec City, QC, G1R 3S3, Canada.; Department of Molecular Biology, Medical Biochemistry and Pathology, Laval University Cancer Research Center, Québec City, QC, G1V 0A6, Canada., van Attikum H; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands. h.van.attikum@lumc.nl.

Publikováno v: Nature communications [Nat Commun] 2019 Nov 22; Vol. 10 (1), pp. 5296. Date of Electronic Publication: 2019 Nov 22.

Recent advances in polygenic scores: translation, equitability, methods and FAIR tools.

Autor: Xiang, Ruidong^1,2 (AUTHOR), Kelemen, Martin^2,3,4 (AUTHOR), Xu, Yu^2,3,4,5 (AUTHOR), Harris, Laura W.⁶ (AUTHOR), Parkinson, Helen⁶ (AUTHOR), Inouye, Michael^1,2,3,4,5,7 (AUTHOR) mi336@cam.ac.uk, Lambert, Samuel A.^2,3,4,5,6 (AUTHOR)

Publikováno v: Genome Medicine. 2/19/2024, Vol. 16, p1-14. 14p.

Geni di suscettibilità al carcinoma ereditario della mammella.

Autor: Veneruso, Iolanda^1,2,3, Scarano, Carmela^1,3, D'Argenio, Valeria^2,3 dargenio@ceinge.unina.it

Publikováno v: Biochimica Clinica. Dec2023, Vol. 47 Issue 4, p326-339. 12p.