27.10.2018 | Short Communication | Ausgabe 2/2019
Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma
P. Vande Perre, A. Siegfried, C. Corsini, D. Bonnet, C. Toulas, N. Hamzaoui, J. Selves, E. Chipoulet, J. S. Hoffmann, E. Uro-Coste, R. Guimbaud
26.11.2018 | Short Communication | Ausgabe 2/2019
Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome
Shahid Mahmood Baig, Ambrin Fatima, Muhammad Tariq, Tahir Naeem Khan, Zafar Ali, Mohammad Faheem, Humera Mahmood, Patrick Killela, Matthew Waitkus, Yiping He, Fangping Zhao, Sizhen Wang, Yuchen Jiao, Hai Yan
03.01.2019 | Original Article | Ausgabe 2/2019
TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort
J. J. Bakhuizen, F. B. Hogervorst, M. E. Velthuizen, M. W. Ruijs, K. van Engelen, T. A. van Os, J. J. Gille, M. Collée, A. M. van den Ouweland, C. J. van Asperen, C. M. Kets, A. R. Mensenkamp, E. M. Leter, M. J. Blok, M. M. de Jong, M. G. Ausems