The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome
This study reports the first cases of molecularly confirmed LFS germline mutations in sub-Saharan Africa. Three black African patients, all with LFS-associated cancers, were seen through the Clinical and Counselling Section of the Division of Human Genetics at the National Health Laboratory Service and University of the Witwatersrand in Johannesburg, South Africa, during 2011 –2012. All three patients (two were related) were recruited into this research study. Sequence analysis of the coding region of theTP53 gene identified a Class IV (likely pathogenic) variant, c.326T > C (p.Phe109Ser), in the two related patients, and a known pathogenic mutation, c.1010G > A (p.Arg337His), also referred to as the Brazilian founder mutation, in the other patient. A confirmed diagnosis in these patients will assist in tailored medical management (it is recommended that individuals carrying a germlineTP53 mutation avoid radiotherapy as this might cause secondary radiotherapy-induced malignancies) and in addition, genetic testing of at-risk family members can be offered. Very little is known and documented on LFS in African individuals. Despite the small number of patients in this study, the results support the need for diagnostic genetic testing for LFS in South Africa.
Publication date: Available online 17 November 2019Source: European UrologyAuthor(s): Zhengzheng Xu, Guangzhe Ge, Bao Guan, Zhentao Lei, Xueyu Hao, Yuanyuan Zhou, Yue Shi, Huan Lu, Jilu Wang, Ding Peng, XiKang Wu, Huiying He, Bao Zhang, Xuesong Li, Liqun Zhou, Weimin Ci
Publication date: Available online 16 November 2019Source: European UrologyAuthor(s): Pirus Ghadjar, Thomas Wiegel
Publication date: Available online 16 November 2019Source: European UrologyAuthor(s): Elise De Bleser, Piet Ost
ConclusionsTattooing of axillary LNs is safe and easily performed. Tattooing was helpful in identifying the marked LN in the majority of cases. This technique helps to ensure that metastatic LNs are identified and removed at surgery after NAT.
Individuals who have multiple close relatives with pancreatic cancer should undergo surveillance for pancreatic cancer, according to updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium.Reuters Health Information
Publication date: Available online 16 November 2019Source: Gynecologic Oncology ReportsAuthor(s): Hermineh Aramin, Pratistha Koirala, Abhishek Shah, Kendall Adams, Natalia Buza, Sapna Desai, Melissa Fairbairn, David Goldenberg, Wenli Gao, Linus Chuang, Ramapriya Vidhun, Vaagn Andikyan
Publication date: Available online 17 November 2019Source: Pharmacological ResearchAuthor(s): Ali Dehshahri, Milad Ashrafizadeh, Elham Ghasemipour Afshar, Abbas Pardakhty, Ali Mandegary, Reza Mohammadinejad, Gautam SethiAbstractTopoisomerase enzymes have shown unique roles in replication and transcription. These enzymes which were initially found in Escherichia coli have attracted considerable attention as target molecules for cancer therapy. Nowadays, there are several topoisomerase inhibitors in the market to treat or at least control the progression of cancer. However, significant toxicity, low solubility and poor pharm...
Publication date: Available online 16 November 2019Source: Journal of Evidence Based Dental PracticeAuthor(s): Walter J. Psoter, Erin T. Shope
ConclusionsOral HPV infection is significantly prevalent and widespread worldwide, particularly among men and among populations at risk. Prevalence has increased during the last two decades.
In conclusion, miR-142-3p overexpression may inhibit autophagy and promote the drug sensitivity of breast cancer cells to DOX by targeting HMGB1. The miR-142-3p/HMGB1 axis might be a novel target to regulate the drug resistance of breast cancer patients.Graphical abstractHigh-mobility group box 1 (HMGB1) is a direct functional target of miR-142-3p in breast cancer cells. MiR-142-3p overexpression may inhibit autophagy and promote the drug sensitivity of doxorubicin (DOX) by targeting HMGB1. The miR-142-3p/HMGB1 axis might be an important pathway regulating the sensitivity of breast cancer cells.