Ausgabe 2/2023
Inhalt (12 Artikel)
Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome?
Ryan Matthew Kahn, Muhammad Danyal Ahsan, Eloise Chapman-Davis, Kevin Holcomb, Roni Nitecki, Jose Alejandro Rauh-Hain, Rana Khan Fowlkes, Francesca Tubito, Maira Pires, Paul J Christos, Kaitlyn Tkachuk, Hannah Krinsky, Ravi N. Sharaf, Kenneth Offit, Steven Lipkin, Melissa K. Frey
A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary Cancer Centres in Ireland
Terri Patricia McVeigh, Karl J. Sweeney, Donal J. Brennan, Una M. McVeigh, Simon Ward, Ann Strydom, Sheila Seal, Katherine Astbury, Paul Donnellan, Joanne Higgins, Maccon Keane, Michael J. Kerin, Carmel Malone, Pauline McGough, Ray McLaughlin, Michael O’Leary, Margaret Rushe, Michael Kevin Barry, Geraldine MacGregor, Michael Sugrue, Ala Yousif, Dhafir Al-Azawi, Eileen Berkeley, Terence J. Boyle, Elizabeth M. Connolly, Carmel Nolan, Elaine Richardson, Claire Giffney, Samantha B. Doyle, Sheila Broderick, William Boyd, Ruaidhri McVey, Thomas Walsh, Michael Farrell, David J. Gallagher, Nazneen Rahman, Angela J. George
Identifying the BRCA1 c.-107A > T variant in Dutch patients with a tumor BRCA1 promoter hypermethylation
Vincent M. T. de Jong, Roelof Pruntel, Tessa G. Steenbruggen, Fonnet E. Bleeker, Petra Nederlof, Frans B. L. Hogervorst, Sabine C. linn
Determinants of adherence to recommendations on physical activity, red and processed meat intake, and body weight among lynch syndrome patients
M Hoedjes, A Vrieling, L de Brauwer, A Visser, E Gómez García, N Hoogerbrugge, E Kampman
Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review
Shahram Aziz, Hazel O’Sullivan, Kara Heelan, Afrina Alam, Terri P. McVeigh
Laboratory variation in the grading of dysplasia of duodenal adenomas in familial adenomatous polyposis patients
E. Soons, P. D. Siersema, L. M. A. van Lierop, T. M. Bisseling, M. C. A. van Kouwen, I. D. Nagtegaal, R. S. van der Post, F. Atsma
CDH1 mutations recurrence and global clustering in genetically tested families with hereditary diffuse gastric cancer syndrome: results from a systematic study
Giovanni Corso, Valentina Tagliaferri, Giulia Massari, Antonio Cioffi, Elisabetta Maria Cristina Rossi, Paolo Veronesi, Francesca Magnoni
Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome
Yasaman Arjmand Abbassi, Claudia Le Guin, Norbert Bornfeld, Nikolaos E. Bechrakis, Michael Zeschnigk, Dietmar R. Lohmann
Disclosure of genetic risk to dating partners among young adults with von Hippel-Lindau disease
Elysa Bond, Beverly Yashar, Tobias Else, Jenae Osborne, Monica Marvin
A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant
Madeline Foley, Anu Sharma, Kinley Garfield, Luke Maese, Luke Buchmann, Julie Boyle, Wendy Kohlmann, Joanne Jeter, Samantha Greenberg
Next-generation universal hereditary cancer screening: implementation of an automated hereditary cancer screening program for patients with advanced cancer undergoing tumor sequencing in a large HMO
Trevor L. Hoffman, Hilary Kershberg, John Goff, Kimberly J. Holmquist, Reina Haque, Monica Alvarado