Issue 1/2019
Content (20 Articles)
Clinical and pathologic characteristics of breast cancer patients carrying the c.3481_3491del11 mutation
R. El Tannouri, E. Albuisson, P. Jonveaux, E. Luporsi
Reminders of cancer risk and pain catastrophizing: relationships with cancer worry and perceived risk in women with a first-degree relative with breast cancer
Colette A. Whitney, Caroline S. Dorfman, Rebecca A. Shelby, Francis J. Keefe, Vicky Gandhi, Tamara J. Somers
Cholesterol profile in women with premature menopause after risk reducing salpingo-oophorectomy
Natalia Teixeira, Marian J. Mourits, Jan C. Oosterwijk, Ingrid E. Fakkert, Anthony R. Absalom, Stephan J. L. Bakker, Peter van der Meer, Geertruida H. de Bock
Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant
Maria De Bonis, Angelo Minucci, Giovanni Luca Scaglione, Elisa De Paolis, Gianfranco Zannoni, Giovanni Scambia, Ettore Capoluongo
The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden
Christina Edwinsdotter Ardnor, Anna Rosén, Ingrid Ljuslinder, Beatrice Melin
Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes
Helle Vendel Petersen, Birgitte Lidegaard Frederiksen, Charlotte Kvist Lautrup, Lars Joachim Lindberg, Steen Ladelund, Mef Nilbert
Prevalence of thyroid diseases in familial adenomatous polyposis: a systematic review and meta-analysis
Jirat Chenbhanich, Amporn Atsawarungruangkit, Sira Korpaisarn, Tanit Phupitakphol, Soravis Osataphan, Prasit Phowthongkum
Identification of a novel GREM1 duplication in a patient with multiple colon polyps
Danielle B. McKenna, Jeroen Van Den Akker, Alicia Y. Zhou, Lauren Ryan, Annette Leon, Robert O’Connor, Payal D. Shah, Anil K. Rustgi, Bryson W. Katona
Modified capture–recapture estimates of the number of families with Lynch syndrome in Central Ohio
John Michael O. Ranola, Rachel Pearlman, Heather Hampel, Brian H. Shirts
Outcome of thyroid ultrasound screening in FAP patients with a normal baseline exam
Marc Monachese, Gautam Mankaney, Rocio Lopez, Margaret O’Malley, Lisa Laguardia, Matthew F. Kalady, James Church, Joyce Shin, Carol A. Burke
Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori
Christopher Hakkaart, Lis Ellison-Loschmann, Robert Day, Andrew Sporle, Jonathan Koea, Pauline Harawira, Soo Cheng, Michelle Gray, Tracey Whaanga, Neil Pearce, Parry Guilford
Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes
Eryn Dow, Ingrid M. Winship
Sarcoma in neurofibromatosis 2: case report and review of the literature
C. Linder, M. J. Smith, M. Bulman, A. Wallace, A. J. Freemont, D. C. Mangham, D. G. R. Evans
Report of a bi-allelic truncating germline mutation in TP53
Natasha J. Brown, Kanika Bhatia, Julie Teague, Susan M. White, Patrick Lo, Jackie Challis, Victoria Beshay, Michael Sullivan, David Malkin, Jordan R. Hansford
Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer
Lisa Bush, Melyssa Aronson, Uri Tabori, Brittany B. Campbell, Raymond B. Bedgood, Kory Jasperson
Low-level parental mosaicism in an apparent de novo case of Peutz–Jeghers syndrome
G. I. Butel-Simoes, A. D. Spigelman, R. J. Scott, R. E. Vilain
Candidate susceptibility variants in angioimmunoblastic T-cell lymphoma
Iikki Donner, Riku Katainen, Eevi Kaasinen, Mervi Aavikko, Lauri J. Sipilä, Eero Pukkala, Lauri A. Aaltonen
Physician interpretation of variants of uncertain significance
Sarah K. Macklin, Jessica L. Jackson, Paldeep S. Atwal, Stephanie L. Hines
The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice
Fred H Menko, Jacqueline A ter Stege, Lizet E van der Kolk, Kiki N Jeanson, Winnie Schats, Daoud Ait Moha, Eveline M A Bleiker
The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study
Kelly Reumkens, Marly H. E. Tummers, Joyce J. G. Gietel-Habets, Sander M. J. van Kuijk, Cora M. Aalfs, Christi J. van Asperen, Margreet G. E. M. Ausems, Margriet Collée, Charlotte J. Dommering, C. Marleen Kets, Lizet E. van der Kolk, Jan C. Oosterwijk, Vivianne C. G. Tjan-Heijnen, Trudy van der Weijden, Christine E. M. de Die-Smulders, Liesbeth A. D. M. van Osch