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Cancer predisposition

Xia Qi, Yuanjun Yu, Na Ji, Sashuang Ren, Yongcheng Xu, Hui Liu
OBJECTIVE: To investigate cancer association in the genome and the genetic risk of death from major cancers according to the theory of programmed onset for an individual. METHODS: Alleles of 15 randomly selected short tandem repeat (STR) loci, including D6S1043, D12S391, CSF1PO, D7S820, D2S1338, D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D16S539 and D19S433, were determined in 50 patients with lung cancer and 50 patients with liver cancer. The onset age of patients with and without the alleles was compared with Cox regression...
June 15, 2018: Gene
Barbara Wlodarczyk, Anita Gasiorowska, Ewa Malecka-Panas
New-onset diabetes mellitus (DM) is one of the first symptoms of pancreatic adenocarcinoma (PDAC). The frequency of endocrine disorders is estimated between 40% and 80% in patients with pancreatic cancer. DM is a risk factor for cancer development but it may also be a consequence of the tumor growth. Data confirming the existence of a relationship between long standing type 2 DM and an increased risk of PDAC comes from numerous clinical studies. Insulin resistance phenomenon and hyperinsulinemia may result in the increased proliferation of pancreatic islets which in turn may cause a predisposition to cancer development...
June 16, 2018: Journal of Clinical Gastroenterology
James Whitworth, Philip S Smith, Jose-Ezequiel Martin, Hannah West, Andrea Luchetti, Faye Rodger, Graeme Clark, Keren Carss, Jonathan Stephens, Kathleen Stirrups, Chris Penkett, Rutendo Mapeta, Sofie Ashford, Karyn Megy, Hassan Shakeel, Munaza Ahmed, Julian Adlard, Julian Barwell, Carole Brewer, Ruth T Casey, Ruth Armstrong, Trevor Cole, Dafydd Gareth Evans, Florentia Fostira, Lynn Greenhalgh, Helen Hanson, Alex Henderson, Jonathan Hoffman, Louise Izatt, Ajith Kumar, Ava Kwong, Fiona Lalloo, Kai Ren Ong, Joan Paterson, Soo-Mi Park, Rakefet Chen-Shtoyerman, Claire Searle, Lucy Side, Anne-Bine Skytte, Katie Snape, Emma R Woodward, Marc D Tischkowitz, Eamonn R Maher
Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in cancer-predisposition genes (CPGs) is mostly targeted by tumor type. We ascertained pre-assessed MPT individuals (with at least two primary tumors by age 60 years or at least three by 70 years) from genetics centers and performed whole-genome sequencing (WGS) on 460 individuals from 440 families...
June 12, 2018: American Journal of Human Genetics
Corinna L Schultz, Melissa A Alderfer, Robert B Lindell, Zachary McClain, Kristin Zelley, Kim E Nichols, Carol A Ford
Li-Fraumeni syndrome (LFS) is a highly penetrant cancer predisposition syndrome that may present with a first cancer before or during adolescence/young adulthood. Families offered LFS genetic testing for their children can inform our understanding of how the unique developmental context of adolescence influences parental perspectives about genetic testing and discussions of cancer risk. In this study, semi-structured interviews were conducted with 46 parents of children at risk for LFS to capture those perspectives...
June 16, 2018: Journal of Genetic Counseling
Allison A Gockley, Kevin M Elias
Ovarian cancer remains the leading cause of gynecologic cancer death among American women. Prevention is the only proven approach to reduce the incidence of the disease. Oral contraception, tubal ligation, and risk-reducing salpingo-oophorectomy (rrBSO) for high-risk groups are all established risk reduction strategies. This paradigm is changing as recent biologic studies suggest that many ovarian cancers, especially high-grade serous ovarian cancers, originate in the distal end of the fallopian tube rather than the ovarian surface epithelium...
June 11, 2018: Cancer Treatment Reviews
Raphaela Fritsche-Guenther, Christin Zasada, Guido Mastrobuoni, Nadine Royla, Roman Rainer, Florian Roßner, Matthias Pietzke, Edda Klipp, Christine Sers, Stefan Kempa
Metabolic reprogramming is as a hallmark of cancer, and several studies have reported that BRAF and KRAS tumors may be accompanied by a deregulation of cellular metabolism. We investigated how BRAFV600E and KRASG12V affect cell metabolism, stress resistance and signaling in colorectal carcinoma cells driven by these mutations. KRASG12V expressing cells are characterized by the induction of glycolysis, accumulation of lactic acid and sensitivity to glycolytic inhibition. Notably mathematical modelling confirmed the critical role of MCT1 designating the survival of KRASG12V cells...
June 15, 2018: Scientific Reports
Arianna Palladini, Lorena Landuzzi, Pier-Luigi Lollini, Patrizia Nanni
Cancer immunoprevention is based on the fact that a functioning immune system controls tumor onset and development in humans and animals, thus leading to the idea that the enhancement of immune responses in healthy individuals could effectively reduce cancer risk later in life. Successful primary immunoprevention of tumors caused by hepatitis B and papilloma viruses is already implemented at the population level with specific vaccines. The immunoprevention of human tumors unrelated to infectious agents is an outstanding challenge...
June 15, 2018: BMC Immunology
Minghui Pang, Yijun Liu, Xiaolin Hou, Jialiang Yang, Xuelai He, Nengyi Hou, Peixi Liu, Luo Liang, Junwen Fu, Kang Wang, Zimeng Ye, Bo Gong
Familial adenomatous polyposis (FAP), an autosomal dominant disease, is a colon cancer predisposition syndrome that manifests as a large number of adenomatous polyps. Mutations in the Adenomatous polyposis coli (APC) gene are responsible for the majority of cases of FAP. The purpose of the present study was to report the clinical features of a Chinese family with FAP and screen for novel mutations using the targeted next‑generation sequencing technology. Among the 29 family members, 12 were diagnosed of FAP...
June 5, 2018: Molecular Medicine Reports
Pilar Mur, Ann-Sofie Jemth, Luka Bevc, Nuno Amaral, Matilde Navarro, Rafael Valdés-Mas, Tirso Pons, Gemma Aiza, Miguel Urioste, Alfonso Valencia, Conxi Lázaro, Victor Moreno, Xose S Puente, Pål Stenmark, Ulrika Warpman-Berglund, Gabriel Capellá, Thomas Helleday, Laura Valle
The causal association of NUDT1 ( = MTH1) and OGG1 with hereditary colorectal cancer (CRC) remains unclear. Here we sought to provide additional evidence for or against the causal contribution of NUDT1 and OGG1 mutations to hereditary CRC and/or polyposis. Mutational screening was performed using pooled DNA amplification and targeted next generation sequencing in 529 families (441 uncharacterized MMR-proficient familial non-polyposis colorectal cancer and 88 polyposis cases). Co-segregation, in silico analyses, in vitro functional assays and case-control associations, were carried out to characterize the identified variants...
June 13, 2018: Human Mutation
Lamis Yehia, Supriya Jindal, Anton A Komar, Charis Eng
SEC23B is a component of coat protein complex II (COPII) vesicles that transport secretory proteins from the endoplasmic reticulum (ER) to the Golgi apparatus. Loss-of-function SEC23B mutations cause a rare form of anemia, resulting from decreased SEC23B levels. We recently identified germline heterozygous SEC23B variants as potentially cancer-predisposing. Mutant SEC23B associated with ER stress-mediated tumorigenesis, without decreased SEC23B expression. However, our understanding of the processes behind these observations remain limited...
June 8, 2018: Human Molecular Genetics
Camilo Jimenez
Malignant pheochromocytomas and paragangliomas affect a very small percentage of the general population. A substantial number of these patients have a hereditary predisposition for the disease and consequently, bear the risk of developing these tumors throughout their entire lives. It is, however, unclear why some patients with no hereditary predisposition develop these tumors, which frequently share a similar molecular phenotype with their hereditary counterparts. Both hereditary and sporadic tumors usually appear at an early age, and affected people often die before reaching their expected lifespans...
2018: Frontiers in Endocrinology
Agda Karina Eterovic, Ossama M Maher, Joya Chandra, Ken Chen, Jason Huse, Wafik Zaky
Metachronous neoplasms have rarely been reported in patients with neuroblastoma. This report presents the clinical case of a 23-month-old child who was diagnosed with an anaplastic medulloblastoma 5 months after completing treatment for stage IV neuroblastoma. The patient was treated with complete surgical resection and adjuvant chemoradiation followed by maintenance chemotherapy at an outside institution and came to our institution for further management. A pathologic diagnosis and review of both the suprarenal and posterior fossa masses were performed, as well as a genetic analysis of both cerebellar tumor tissue and blood using next-generation gene sequencing...
June 2018: Journal of the National Comprehensive Cancer Network: JNCCN
Tilmann Bochtler, Volker Endris, Anna Reiling, Jonas Leichsenring, Michal R Schweiger, Sebastian Klein, Fabian Stögbauer, Benjamin Goeppert, Peter Schirmacher, Alwin Krämer, Albrecht Stenzinger
This case report presents a male patient with epithelioid mesothelioma that was initially misdiagnosed as cancer of unknown primary (CUP) and correctly identified using molecular panel sequencing. The patient had a prior history of colon and breast cancer. To assess the enlarged mediastinal lymph nodes, retrosternal lymphadenectomy was performed in 2016. The lymph nodes were histologically deemed unrelated to the known breast cancer by the reference pathologist, thus leading to the diagnosis of a CUP syndrome...
June 2018: Journal of the National Comprehensive Cancer Network: JNCCN
Jacqueline Lammert, Sabine Grill, Marion Kiechle
Increasing rates of obesity, lack of physical activity, sedentary behavior, and frequent alcohol consumption are major lifestyle-related risk factors for breast cancer. In fact, it has been estimated that about one-third of breast cancer cases are attributable to factors women can change. Most research has focused on examining the impact of one single exposure on breast cancer risk while adjusting for other risk modifiers. Capitalizing on big data, major efforts have been made to evaluate the combined impact of well-established lifestyle factors on overall breast cancer risk...
April 2018: Breast Care
Aziz Zaanan, Olivier Bouché, Leonor Benhaim, Bruno Buecher, Nicolas Chapelle, Olivier Dubreuil, Nadim Fares, Victoire Granger, Christine Lefort, Johan Gagniere, Julie Meilleroux, Anne-Sophie Baumann, Veronique Vendrely, Michel Ducreux, Pierre Michel
INTRODUCTION: This document is a summary of the French Intergroup guidelines regarding the management of gastric cancer published in October 2016, available on the website of the French Society of Gastroenterology (SNFGE) (, updated in October 2017. METHODS: This collaborative work was realized under the auspices of several French medical societies involved in management of gastric cancer. Recommendations are graded in three categories (A-C), according to the amount of evidence found in the literature until July 2017...
June 6, 2018: Digestive and Liver Disease
Christian Koelsche, Martin Mynarek, Daniel Schrimpf, Luca Bertero, Jonathan Serrano, Felix Sahm, David E Reuss, Yanghao Hou, Daniel Baumhoer, Christian Vokuhl, Uta Flucke, Iver Petersen, Wolfgang Brück, Stefan Rutkowski, Sandro Casavilca Zambrano, Juan Luis Garcia Leon, Rosdali Yesenia Diaz Coronado, Manfred Gessler, Oscar M Tirado, Jaume Mora, Javier Alonso, Xavier Garcia Del Muro, Manel Esteller, Dominik Sturm, Jonas Ecker, Till Milde, Stefan M Pfister, Andrey Korshunov, Matija Snuderl, Gunhild Mechtersheimer, Ulrich Schüller, David T W Jones, Andreas von Deimling
Patients with DICER1 predisposition syndrome have an increased risk to develop pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several other rare tumor entities. In this study, we identified 22 primary intracranial sarcomas, including 18 in pediatric patients, with a distinct methylation signature detected by array-based DNA-methylation profiling. In addition, two uterine rhabdomyosarcomas sharing identical features were identified. Gene panel sequencing of the 22 intracranial sarcomas revealed the almost unifying feature of DICER1 hotspot mutations (21/22; 95%) and a high frequency of co-occurring TP53 mutations (12/22; 55%)...
June 7, 2018: Acta Neuropathologica
Márton Münz, Shazia Mahamdallie, Shawn Yost, Andrew Rimmer, Emma Poyastro-Pearson, Ann Strydom, Sheila Seal, Elise Ruark, Nazneen Rahman
Quality assurance and quality control are essential for robust next generation sequencing (NGS). Here we present CoverView, a fast, flexible, user-friendly quality evaluation tool for NGS data. CoverView processes mapped sequencing reads and user-specified regions to report depth of coverage, base and mapping quality metrics with increasing levels of detail from a chromosome-level summary to per-base profiles. CoverView can flag regions that do not fulfil user-specified quality requirements, allowing suboptimal data to be systematically and automatically presented for review...
2018: Wellcome Open Research
Yosr Hamdi, Maroua Boujemaa, Mariem Ben Rekaya, Cherif Ben Hamda, Najah Mighri, Houda El Benna, Nesrine Mejri, Soumaya Labidi, Nouha Daoud, Chokri Naouali, Olfa Messaoud, Mariem Chargui, Kais Ghedira, Mohamed Samir Boubaker, Ridha Mrad, Hamouda Boussen, Sonia Abdelhak
BACKGROUND: A family history of breast cancer has long been thought to indicate the presence of inherited genetic events that predispose to this disease. In North Africa, many specific epidemio-genetic characteristics have been observed in breast cancer families when compared to Western populations. Despite these specificities, the majority of breast cancer genetics studies performed in North Africa remain restricted to the investigation of the BRCA1 and BRCA2 genes. Thus, comprehensive data at a whole exome or whole genome level from local patients are lacking...
June 7, 2018: Journal of Translational Medicine
George Hindy, Frans Wiberg, Peter Almgren, Olle Melander, Marju Orho-Melander
BACKGROUND: Coronary heart disease (CHD) is a multifactorial disease with both genetic and environmental components. Smoking is the most important modifiable risk factor for CHD. Our aim was to test whether the increased CHD incidence by smoking is modified by genetic predisposition to CHD. METHODS AND RESULTS: Our study included 24 443 individuals from the MDCS (Malmö Diet and Cancer Study). A weighted polygenic risk score (PRS) was created by summing the number of risk alleles for 50 single-nucleotide polymorphisms associated with CHD...
January 2018: Circulation. Genomic and precision medicine
Tara M Brinkman, Christopher J Recklitis, Gisela Michel, Martha A Grootenhuis, James L Klosky
The diagnosis, treatment, and medical late effects of childhood cancer may alter the psychosocial trajectory of survivors across their life course. This review of the literature focuses on mental health symptoms, achievement of social milestones, socioeconomic attainment, and risky health behaviors in survivors of childhood cancer. Results suggest that although most survivors are psychologically well adjusted, survivors are at risk for anxiety and depression compared with siblings. Although the absolute risk of suicide ideation and post-traumatic stress symptoms is low, adult survivors are at increased risk compared with controls...
June 6, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
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