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Zeitschrift

Familial Cancer

Familial Cancer 2/2020

Ausgabe 2/2020

Inhaltsverzeichnis ( 10 Artikel )

11.02.2020 | Original Article | Ausgabe 2/2020

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

30.01.2020 | Original Article | Ausgabe 2/2020 Open Access

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

24.02.2020 | Original Article | Ausgabe 2/2020

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

01.04.2020 | Original Article | Ausgabe 2/2020

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

30.01.2020 | Original Article | Ausgabe 2/2020

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

29.01.2020 | Original Article | Ausgabe 2/2020

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

29.01.2020 | Original Article | Ausgabe 2/2020 Open Access

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

22.02.2020 | Original Article | Ausgabe 2/2020 Open Access

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

12.02.2020 | Short Communication | Ausgabe 2/2020

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

01.04.2020 | Short Communication | Ausgabe 2/2020

De novo pathogenic germline variant in PALB2 in a patient with pancreatic cancer

Rinat Bernstein Molho, Shelly Zalmanoviz, Yael Laitman, Eitan Friedman

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