Ausgabe 3/2020
Inhalt (10 Artikel)
Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer
Tu Nguyen-Dumont, Jason A. Steen, Ingrid Winship, Daniel J. Park, Bernard J. Pope, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Derrick Theys, Mark Clendenning, Graham G. Giles, John L. Hopper, Melissa C. Southey
Lack of evidence for CDK12 as an ovarian cancer predisposing gene
Alexandre Eeckhoutte, Mathilde Saint-Ghislain, Manon Reverdy, Virginie Raynal, Sylvain Baulande, Guillaume Bataillon, Lisa Golmard, Dominique Stoppa-Lyonnet, Tatiana Popova, Claude Houdayer, Elodie Manié, Marc-Henri Stern
Analysis of 3297 individuals suggests that the pathogenic germline 5′-UTR variant BRCA1 c.-107A > T is not common in south-east Germany
A. Laner, A. Benet-Pages, B. Neitzel, E. Holinski-Feder
Do the risks of Lynch syndrome-related cancers depend on the parent of origin of the mutation?
Shimelis Dejene Gemechu, Christine M. van Vliet, Aung Ko Win, Jane C. Figueiredo, Loic Le Marchand, Steven Gallinger, Polly A. Newcomb, John L. Hopper, Noralane M. Lindor, Mark A. Jenkins, James G. Dowty
Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis
Brandie Heald, Heather Hampel, James Church, Beth Dudley, Michael J. Hall, Maureen E. Mork, Aparajita Singh, Elena Stoffel, Jessica Stoll, Y. Nancy You, Matthew B. Yurgelun, Sonia S. Kupfer
Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family
I. Viakhireva, E. Musatova, L. Bessonova, Y. Shcherbatyuk, S. Korobkov, S. Zhikriveckaya, Ya. Sofronova, I. Mironova, D. Khmelkova, F. Konovalov, A. Baranova, E. Pomerantseva, M. Skoblov
Patient-reported burden of intensified surveillance and surgery in high-risk individuals under pancreatic cancer surveillance
Kasper A. Overbeek, Djuna L. Cahen, Anne Kamps, Ingrid C. A. W. Konings, Femme Harinck, Marianne A. Kuenen, Bas Groot Koerkamp, Marc G. Besselink, Casper H. van Eijck, Anja Wagner, Margreet G. E. Ausems, Manon van der Vlugt, Paul Fockens, Frank P. Vleggaar, Jan-Werner Poley, Jeanin E. van Hooft, Eveline M. A. Bleiker, Marco J. Bruno, M. J. Bruno, D. L. Cahen, J. W. Poley, F. Harinck, I. C. A. W. Konings, K. A. Overbeek, I. J. M. Levink, B. Koopmann, A. Wagner, B. Groot Koerkamp, K. Biermann, M. P. Peppelenbosch, P. Fockens, J. E. van Hooft, M. van der Vlugt, B. A. J. Bastiaansen, M. G. Besselink, M. G. E. Ausems, M. E. Velthuizen, F. P. Vleggaar, H. van Dullemen, E. M. A. Bleiker, M. A. Kuenen
Waiting and “weighted down”: the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome
Allison Werner-Lin, Jennifer L. Young, Catherine Wilsnack, Shana L. Merrill, Victoria Groner, Mark H. Greene, Payal P. Khincha
De novo SDHB gene mutation in a family with extra-adrenal paraganglioma
Caitlin B. Mauer, Brian Reys, Jonathan Wickiser
Genetic health professionals’ experiences with initiating reanalysis of genomic sequence data
Danya F. Vears, Karine Sénécal, Pascal Borry