Ausgabe 1/2020
Inhalt (25 Artikel)
Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53
- Open Access
- Research
Meis Omran, Lennart Blomqvist, Yvonne Brandberg, Niklas Pal, Per Kogner, Anne Kinhult Ståhlbom, Emma Tham, Svetlana Bajalica-Lagercrantz
Group plus “mini” individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction
- Open Access
- Research
Jaclyn Hynes, Andrée MacMillan, Sara Fernandez, Karen Jacob, Shannon Carter, Sarah Predham, Holly Etchegary, Lesa Dawson
Ubiquitous neurocognitive dysfunction in familial adenomatous polyposis: proof-of-concept of the role of APC protein in neurocognitive function
- Open Access
- Research
Marcia Roxana Cruz-Correa, Ana Cecilia Sala, Beatriz Cintrón, Jessica Hernández, Myrta Olivera, Adrian Cora, Constance M. Moore, Carlos A. Luciano, Marievelisse Soto-Salgado, Francis M. Giardiello, Stephen R. Hooper
Diet, weight management, physical activity and Ovarian & Breast Cancer Risk in women with BRCA1/2 pathogenic Germline gene variants: systematic review
- Open Access
- Review
Adriana M. Coletta, Susan K. Peterson, Leticia A. Gatus, Kate J. Krause, Susan M. Schembre, Susan C. Gilchrist, Banu Arun, Y. Nancy You, Miguel A. Rodriguez-Bigas, Larkin L. Strong, Karen H. Lu, Karen Basen-Engquist
The Prospective Lynch Syndrome Database reports enable evidence-based personal precision health care
- Open Access
- Review
Pål Møller
An interesting case of likely BRCA2 related bilateral breast cancer with metastasis in the fimbrial part of fallopian tube
- Open Access
- Case report
Lučka Boltežar, Gorana Gašljević, Srdjan Novaković, Vida Stegel, Erik Škof
A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families
- Open Access
- Case report
Malene Djursby, Karin Wadt, Jane Hübertz Frederiksen, Majbritt Busk Madsen, Lukas Adrian Berchtold, Jane Preuss Hasselby, Gro Linno Willemoe, Thomas v. O. Hansen, Anne-Marie Gerdes
Development and validation of next generation sequencing based 35-gene hereditary cancer panel
- Open Access
- Research
Wing Chan, Mianne Lee, Zhen Xuan Yeo, Dingge Ying, Keith A. Grimaldi, Craig Pickering, Michael M. S. Yang, Senthil K. Sundaram, Lawrence C. H. Tzang
Expectations and psychological issues before genetic counseling: analysis of distress determinant factors
- Open Access
- Research
Zelmira Ballatore, Raffaella Bracci, Elena Maccaroni, Lucia Svarca, Francesca Bianchi, Laura Belvederesi, Cristiana Brugiati, Silvia Pagliaretta, Alberto Murrone, Federica Bini, Mirco Pistelli, Giulia Ricci, Rossana Berardi
Correction to: Expectations and psychological issues before genetic counseling: analysis of distress determinant factors
- Open Access
- Correction
Zelmira Ballatore, Raffaella Bracci, Elena Maccaroni, Lucia Svarca, Francesca Bianchi, Laura Belvederesi, Cristiana Brugiati, Silvia Pagliaretta, Alberto Murrone, Federica Bini, Mirco Pistelli, Giulia Ricci, Rossana Berardi
Increased risk for uterine cancer among first-degree relatives to Swedish gastric cancer patients
- Open Access
- Research
Johanna Samola Winnberg, Eva Rudd, Anne Keränen, Kristina Lagerstedt-Robinson, Annika Lindblom, Magnus Nilsson, Mats Lindblad, Krister Sjödahl
Adherence to National Comprehensive Cancer Network Guidelines for BRCA testing among high risk breast Cancer patients: a retrospective chart review study
- Open Access
- Research
Priyanka Bobbili, Temitope Olufade, Maral DerSarkissian, Rahul Shenolikar, Hong Yu, Mei Sheng Duh, Nadine Tung
An American patient with polyposis carrying a Scandinavian AXIN2 pathogenic variant
- Open Access
- Letter to the Editor
Sarah K. Macklin-Mantia, Douglas L. Riegert-Johnson
Informing patients about their mutation tests: CDKN2A c.256G>A in melanoma as an example
- Open Access
- Research
Kari Hemminki, Aayushi Srivastava, Sivaramakrishna Rachakonda, Obul Bandapalli, Eduardo Nagore, Akseli Hemminki, Rajiv Kumar
Polymorphisms in MMP-1, MMP-2, MMP-7, MMP-13 and MT2A do not contribute to breast, lung and colon cancer risk in polish population
- Open Access
- Research
Katarzyna Białkowska, Wojciech Marciniak, Magdalena Muszyńska, Piotr Baszuk, Satish Gupta, Katarzyna Jaworska-Bieniek, Grzegorz Sukiennicki, Katarzyna Durda, Tomasz Gromowski, Marcin Lener, Karolina Prajzendanc, Alicja Łukomska, Cezary Cybulski, Tomasz Huzarski, Jacek Gronwald, Tadeusz Dębniak, Jan Lubiński, Anna Jakubowska
Retrospective review of outcomes in patients with DNA-damage repair related pancreatic cancer
- Open Access
- Research
Sarah K. Macklin-Mantia, Stephanie L. Hines, Pashtoon M. Kasi
Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden
- Open Access
- Research
Andreas Andersson, Carolina Hawranek, Anna Öfverholm, Hans Ehrencrona, Kalle Grill, Senada Hajdarevic, Beatrice Melin, Emma Tham, Barbro Numan Hellquist, Anna Rosén
Patients with unexplained mismatch repair deficiency are interested in updated genetic testing
- Open Access
- Research
Jessica Omark, Eduardo Vilar, Y Nancy You, Leslie Dunnington, Sarah Noblin, Blair Stevens, Maureen Mork
Preferences for breast cancer prevention among women with a BRCA1 or BRCA2 mutation
- Open Access
- Research
Carol A. Mansfield, Kelly A. Metcalfe, Carrie Snyder, Geoffrey J. Lindeman, Joshua Posner, Sue Friedman, Henry T. Lynch, Steven A. Narod, D. Gareth Evans, Alexander Liede
Biological and clinical impact of central nervous system hemangioblastomas in Chinese patients with von Hippel-Lindau disease: implications for treatment
- Open Access
- Research
Zhen Liu, Liang Li, Zhiqiang Yi, Hongzhou Duan, Runchun Lu, Chunwei Li, Lei Li, Kan Gong
An in-depth exploration of the post-test informational needs of BRCA1 and BRCA2 pathogenic variant carriers in Asia
- Open Access
- Research
Jeanette Yuen, Si Ming Fung, Chin Leong Sia, Mallika Venkatramani, Tarryn Shaw, Eliza Courtney, Shao-Tzu Li, Jianbang Chiang, Veronique Kiak-Mien Tan, Benita Kiat-Tee Tan, Joanne Ngeow
Metachronous cutaneous squamous cell carcinoma in a young patient as the only presenting symptom to uncover Lynch syndrome with MLH1 Germline mutation
- Open Access
- Case report
Karam Khaddour, Ryan C. Fields, Michael Ansstas, Ilana S. Rosman, George Ansstas
Characteristics and genetic testing outcomes of patients with clinically suspected paraganglioma/pheochromocytoma (PGL/PCC) syndrome in Singapore
- Open Access
- Research
Kay Reen Ting, Pei Yi Ong, Samuel Ow Guan Wei, Rajeev Parameswaran, Chin Meng Khoo, Doddabele Srinivasa Deepak, Soo-Chin Lee
Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients
- Open Access
- Research
Muhammad Usman Rashid, Noor Muhammad, Faiz Ali Khan, Umara Shehzad, Humaira Naeemi, Naila Malkani, Ute Hamann
