NTHL1 -associate polyposis: first Australian case report

AbstractWhile familial adenomatous polyposis accounts for approximately 1% of all colorectal cancer, the genetic cause underlying the development of multiple colonic adenomas remains unsolved in many patients. Adenomatous polyposis syndromes can be divided into: familial adenomatous polyposis,MUTYH-associated polyposis, polymerase proofreading associated polyposis and the recently describedNTHL1-associated polyposis (NAP). NAP is characterised by recessive inheritance, attenuated adenomatous polyposis, colonic cancer(s) and possible extracolonic malignancies. To date, 11 cases have been reported as having germline homozygous or compound heterozygous mutations in the base excision repair geneNTHL1. Here we present a further case of a 65-year-old male with a history of adenomatous polyposis and bladder cancer, who has a previously described homozygous nonsense variant in theNTHL1 gene. This case is consistent with the emerging phenotype previously described of multiple colorectal adenomas and at least one primary tumour, adding to the small but growing body of literature about NAP.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

Related Links:

ConclusionsTraditionally, patients with vesicovaginal fistula after pelvic radiation therapy and multiple abdominal surgeries are managed by laparotomy. This video demonstrates a feasible robotic approach to vesicovaginal fistula repair, with superior imaging affording a three-dimensional vision and stabilization of instruments allowing wrist-like movements.
Source: Journal of Minimally Invasive Gynecology - Category: OBGYN Source Type: research
Lynch Syndrome (LS) entails a defective DNA mismatch repair system, which is the post-replicative proofreading and editing system, ensuring our genome's integrity. LS predisposes to several cancers, most commonly colorectal and endometrial cancers. LS occurs in approximately 1 in 250 –1,000 people.LS is associated with urological malignancies with upper tract urothelial carcinoma the most common, although still clinically underestimated. Other urologic malignancies possibly associated with LS include bladder, prostate, testis, and renal cell carcinoma.
Source: Urology - Category: Urology & Nephrology Authors: Source Type: research
In this study, we reviewed major human studies on the health risks of radiation exposure and showed that sex-related factors may potentially influence the long-term response to radiation exposure. Available data suggest that long-term radiosensitivity in women is higher than that in men who receive a comparable dose of radiation. The report on the biological effects of ionizing radiation (BEIR VII) published in 2006 by the National Academy of Sciences, United States emphasized that women may be at significantly greater risk of suffering and dying from radiation-induced cancer than men exposed to the same dose of radiation....
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Michal Yalon1†, Amos Toren1,2†, Dina Jabarin2, Edna Fadida3, Shlomi Constantini3 and Ruty Mehrian-Shai1* 1Pediatric Hemato-Oncology, Edmond and Lilly Safra Children's Hospital and Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel 2The Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel 3Department of Pediatric Neurosurgery, Dana Children's Hospital, Tel-Aviv-Sourasky Medical Center, Tel Aviv, Israel Pediatric brain tumors are the most common solid tumor type and the leading cause of cancer-related death in children. The immune system plays an important r...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Segun Fatumo1,2,3*, Tommy Carstensen4, Oyekanmi Nashiru3, Deepti Gurdasani4†, Manjinder Sandhu4,5† and Pontiano Kaleebu1,2† 1Uganda Medical Informatics Centre, MRC/UVRI and LSHTM Uganda Research Unit, Entebbe, Uganda 2London School of Hygiene and Tropical Medicine, London, United Kingdom 3H3Africa Bioinformatics Network (H3ABioNet) Node, Centre for Genomics Research and Innovation, NABDA/FMST, Abuja, Nigeria 4Human Genetics, Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom 5Division of Computational Medicine, Department of Medicine, University of Cambridge, Cambridge, United Kin...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
In conclusion, we showed hypermethylation of CpGs as a novel mechanism of action for DNMTi agents and identified 638 hypermethylated molecular targets (CpGs) common to decitabine and azacytidine therapy. These novel results suggest that hypermethylation of CpGs should be considered when predicting the DNMTi responses and side effects in cancer patients. Introduction DNA methyltransferase inhibitors (DNMTi) are widely used as chemical tools for hypomethylating the genome, with an aim to understand the role of DNA methylation in multiple processes (e.g., X-chromosome inactivation and DNA imprinting) and as an anti-ca...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
This study was carried out in accordance with the recommendations of the Case Western Reserve University IACUC committee. The protocol was approved by the Case Western Reserve University IACUC committee. Author Contributions LRD and DW helped design research studies, analyze data and write the manuscript. ZL, RL, and ND conducted experiments, acquired and analyzed data, and assisted with manuscript preparation. LDM conducted experiments and analyzed data. FC assisted with research design. Funding This work was supported by the NIH P30CA043703, K1CA113838, and R01DK081395. Conflict of Interest Statement The authors de...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Junhui Zhang1,2†, Lingfei Li1,2†, Qiong Zhang1,2, Xu Yang3, Can Zhang4, Xingyue Zhang1,2, Dongxia Zhang1,2, Yanling Lv1,2, Huapei Song1,2, Bing Chen5, Yao Liu6, Jiongyu Hu2,5*† and Yuesheng Huang1,2*† 1Institute of Burn Research, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China 2State Key Laboratory of Trauma, Burns and Combined Injury, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China 3Department of Respiratory Medicine, The 983 Hospital of Joint Logistics Support Force of the Chinese Peopl...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
This study was supported by the Shanghai Sailing Program [grant number 17YF1425200, 2017]; Chinese National Natural Science Funding [grant number 81702249, 2017]; Science and Technology Commission of Shanghai Municipality [grant number 17511103403, 2017]; The funder has no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. Conflict of Interest Statement The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. Acknowledgments We acknowledge the ex...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Joe Abdo1, Christopher S. Wichman2, Nicholas E. Dietz1,3, Pawel Ciborowski4, John Fleegel1, Sumeet K. Mittal1,5 and Devendra K. Agrawal1* 1Department of Clinical and Translational Science, Creighton University School of Medicine, Omaha, NE, United States 2Department of Biostatistics, College of Public Health, University of Nebraska Medical Center, Omaha, NE, United States 3Department of Pathology, CHI Health Creighton University Medical Center, College of Medicine, Omaha, NE, United States 4Department of Pharmacology, University of Nebraska Medical Center, Omaha, NE, United States 5Norton Thoracic Institute, St....
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
More News: Australia Health | Bladder Cancer | Cancer | Cancer & Oncology | Colorectal Cancer | Gastroschisis Repair | Genetics