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Srinivas Teppala, Brent Hodgkinson, Sandi Hayes, Paul Scuffham & Haitham Tuffaha. (2023) A review of the cost-effectiveness of genetic testing for germline variants in familial cancer. Journal of Medical Economics 26:1, pages 19-33.
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Madeleine H. Williams, Andreas V. Hadjinicolaou, Benjamin C. Norton, Rawen Kader & Laurence B. Lovat. (2023) Lynch syndrome: from detection to treatment. Frontiers in Oncology 13.
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D. Sh. Polatova, A. V. Savkin, N. K. Asamedinov, R. R. Davletov, A. I. Nurzhabov & S. K. Nasirov. (2022) Clinical and molecular features of neurofibromatosis types 1 and 2: a review of the literature. Bone and soft tissue sarcomas, tumors of the skin 14:3, pages 33-41.
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Andrew D. Yocum, Dana Bacharach & Erin L. Simon. (2021) An unusual presentation and treatment of a hemorrhaging plexiform neurofibroma. The American Journal of Emergency Medicine 44, pages 479.e3-479.e4.
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Shodai Takahashi, Kazuhiro Shimazu, Koya Kodama, Koji Fukuda, Taichi Yoshida, Daiki Taguchi, Tsutomu Takahashi, Hiroshi Nanjyo & Hiroyuki Shibata. (2020) Lung adenocarcinoma in a patient with Li–Fraumeni syndrome bearing a novel germ-line mutation, TP53R333Vfs*12. Japanese Journal of Clinical Oncology 50:10, pages 1214-1217.
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Carlos M. Curtis-Lopez, Calvin Soh, John Ealing, D. Gareth Evans, Emma M.M. Burkitt Wright, Grace Vassallo, Konstantina Karabatsou & K. Joshi George. (2020) Clinical and neuroradiological characterisation of spinal lesions in adults with Neurofibromatosis type 1. Journal of Clinical Neuroscience 77, pages 98-105.
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Bradford Coffee, Hannah C. Cox, Ryan Bernhisel, Susan Manley, Karla Bowles, Benjamin B. Roa & Debora Mancini‐DiNardo. (2019)
A substantial proportion of apparently heterozygous
TP53
pathogenic variants detected with a next‐generation sequencing hereditary pan‐cancer panel are acquired somatically
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Kathleen F. Mittendorf, Jessica Ezzell Hunter, Jennifer L. Schneider, Elizabeth Shuster, Alan F. Rope, Jamilyn Zepp, Marian J. Gilmore, Kristin R. Muessig, James V. Davis, Tia L. Kauffman, Kellene M. Bergen, Georgia L. Wiesner, Louise S. Acheson, Susan K. Peterson, Sapna Syngal, Jacob A. Reiss & Katrina A. B. Goddard. (2019) Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study. Hereditary Cancer in Clinical Practice 17:1.
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Alyssa I. Clay-Gilmour, Shaji Kumar, S. Vincent Rajkumar, Abdul Rishi, Robert A. Kyle, Jerry A. Katzmann, David L. Murray, Aaron D. Norman, Alexandra J. Greenberg, Dirk R Larson, Megan M. O’Byrne, Susan L. Slager & Celine M. Vachon. (2018) Risk of MGUS in relatives of multiple myeloma cases by clinical and tumor characteristics. Leukemia 33:2, pages 499-507.
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Victorine H. Roos, Barbara A.J. Bastiaansen & Evelien Dekker. (2019) Challenges and pitfalls of investigating duodenal cancer in patients with familial adenomatous polyposis. Gastrointestinal Endoscopy 89:2, pages 355-356.
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Ze-Ming Xie, Jian Sun, Zhe-Yu Hu, Yao-Pan Wu, Peng Liu, Jun Tang, Xiang-Sheng Xiao, Wei-Dong Wei, Xi Wang, Xiao-Ming Xie & Ming-Tian Yang. (2017) Survival outcomes of patients with lobular carcinoma in situ who underwent bilateral mastectomy or partial mastectomy. European Journal of Cancer 82, pages 6-15.
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XIAOYUAN LI, JUAN KANG, QI PAN, WERONIKA SIKORA-WOHLFELD, DACHUN ZHAO, CHANGTING MENG, CHUNMEI BAI, ANIL PATWARDHAN, RICHARD CHEN, HONG REN, ATUL J. BUTTE & KEYUE DING. (2016) Genetic analysis in a patient with nine primary malignant neoplasms: A rare case of Li-Fraumeni syndrome. Oncology Reports 35:3, pages 1519-1528.
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