Ausgabe 2/2020
Inhalt (10 Artikel)
Missense PALB2 germline variant disrupts nuclear localization of PALB2 in a patient with breast cancer
Ming Ren Toh, Chen Ee Low, Siao Ting Chong, Sock Hoai Chan, Nur Diana Binte Ishak, Eliza Courtney, Arun Mouli Kolinjivadi, Amélie Rodrigue, Jean-Yves Masson, Joanne Ngeow
Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway
Eli Marie Grindedal, Kjersti Jørgensen, Pernilla Olsson, Berit Gravdehaug, Hilde Lurås, Ellen Schlichting, Tone Vamre, Teresia Wangensteen, Cecilie Heramb, Lovise Mæhle
Perceptions of risk and reward in BRCA1 and BRCA2 mutation carriers choosing salpingectomy for ovarian cancer prevention
Talayeh S. Ghezelayagh, Lauren E. Stewart, Barbara M. Norquist, Deborah J. Bowen, Vivian Yu, Kathy J. Agnew, Kathryn P. Pennington, Elizabeth M. Swisher
The (ir)relevance of the abandoned criterion II for the diagnosis of serrated polyposis syndrome: a retrospective cohort study
Arne G.C. Bleijenberg, Joep E.G. IJspeert, Daniel Rodríguez-Alcalde, Sabela Carballal, Maurits R. Visser, Maria Pellise, Jan Jacob Koornstra, Salman A. Rana, Andrew Latchford, Francesc Balaguer, Evelien Dekker
Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics
Monika Morak, Verena Steinke-Lange, Trisari Massdorf, Anna Benet-Pages, Melanie Locher, Andreas Laner, Katrin Kayser, Stefan Aretz, Elke Holinski-Feder
Detection of DNA mismatch repair deficient crypts in random colonoscopic biopsies identifies Lynch syndrome patients
Randall E. Brand, Beth Dudley, Eve Karloski, Rohit Das, Kimberly Fuhrer, Rish K. Pai, Reetesh K. Pai
Factors associated with decision-making on prophylactic hysterectomy and attitudes towards gynecological surveillance among women with Lynch syndrome (LS): a descriptive study
Mari H. Kalamo, J. U. Mäenpää, T. T. Seppälä, J. P. Mecklin, H. Huhtala, K. Sorvettula, K. Pylvänäinen, S. Staff
Increased prevalence of Barrett’s esophagus in patients with MUTYH-associated polyposis (MAP)
Ceranza G. Daans, Zeinab Ghorbanoghli, Mary E. Velthuizen, Hans F. A. Vasen, George J. A. Offerhaus, Miangela M. Lacle, Peter D. Siersema, Margreet G. E. M. Ausems, Jurjen J. Boonstra
Co-occurrence of multiple endocrine neoplasia type 4 and spinal neurofibromatosis: a case report
Pamela Brock, Jean Bustamante Alvarez, Amir Mortazavi, Sameek Roychowdhury, John Phay, Raheela A. Khawaja, Manisha H. Shah, Bhavana Konda
De novo pathogenic germline variant in PALB2 in a patient with pancreatic cancer
Rinat Bernstein Molho, Shelly Zalmanoviz, Yael Laitman, Eitan Friedman