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Hereditary cancer

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https://www.readbyqxmd.com/read/28811701/colorectal-cancer-in-young-adults-a-difficult-challenge
#1
EDITORIAL
Fábio Guilherme Campos
Sporadic colorectal cancer (CRC) is traditionally diagnosed after the sixth decade of life, and current recommendations for surveillance include only patients older than 50 years of age. However, an increasing incidence of CRC in patients less than 40 years of age has been reported. This occurrence has been attributed to different molecular features and low suspicion of CRC in young symptomatic individuals. When confronting young-onset CRC with older patients, issues such as biological aggressiveness, stage at diagnosis and clinical outcomes seem to differ in many aspects...
July 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28808875/ssat-state-of-the-art-conference-current-surgical-management-of-gastric-tumors
#2
Jeffrey A Norton, Teresa Kim, Joseph Kim, Martin D McCarter, Kaitlyn J Kelly, Joyce Wong, Jason K Sicklick
INTRODUCTION: The current era of gastric surgery is marked by low morbidity and mortality rates, innovative strategies to approach resections with a minimally invasive fashion or hyperthermic intraperitoneal chemotherapy (HIPEC), as well as improved understanding of the biology of sporadic and hereditary stromal, neuroendocrine, and epithelial malignancies. METHODS: In 2017, the Society for Surgery of the Alimentary Tract convened a State-of-the-Art Conference on Current Surgical Management of Gastric Tumors with both international experts and emerging leaders in the field of gastric surgery...
August 14, 2017: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/28807866/brca1-2-missense-mutations-and-the-value-of-in-silico-analyses
#3
Carolin E Sadowski, Daniela Kohlstedt, Cornelia Meisel, Katja Keller, Kerstin Becker, Luisa Mackenroth, Andreas Rump, Evelin Schröck, Pauline Wimberger, Karin Kast
INTRODUCTION: The clinical implications of genetic variants in BRCA1/2 in healthy and affected individuals are considerable. Variant interpretation, however, is especially challenging for missense variants. The majority of them are classified as variants of unknown clinical significance (VUS). Computational (in-silico) predictive programs are easy to access, but represent only one tool out of a wide range of complemental approaches to classify VUS. With this single-center study, we aimed to evaluate the impact of in-silico analyses in a spectrum of different BRCA1/2 missense variants...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28798812/clinical-epidemiological-and-therapeutic-profile-of-patients-with-a-retinoblastoma-diagnosis-experience-in-the-costa-rica-national-children-s-hospital-oncology-unit-from-january-2009-to-december-2015
#4
Jennie Chen Lo, Carlos Rodríguez, Rigoberto Monestel, Arnoldo Zúñiga
INTRODUCTION: Retinoblastoma represents only 3% of paediatric cancers, but it is the most prevalent intraocular tumour in this population. It develops in the retina as a primitive neuroectodermal tumour that affects development during gestation. The tumour presents in two different forms depending on whether or not it expresses a genetic modification. For patients diagnosed at preschool age, 75% are unilateral non-hereditary cases. While enucleation is the preferred treatment for advanced stages of the tumour, other modalities, such as systemic and intraocular chemotherapy, radiotherapy and local treatments with thermotherapy, cryotherapy, and brachytherapy can be used to try to preserve the eye...
2017: Ecancermedicalscience
https://www.readbyqxmd.com/read/28795204/-entitlement-to-prophylactic-treatment-in-cases-of-genetic-predisposition-for-breast-cancer-interdisciplinary-perspectives
#5
REVIEW
Friedhelm Meier, Jens Ried, Anke Harney, Kerstin Rhiem, Silke Neusser, Anja Neumann, Jürgen Wasem, Rita Schmutzler, Stefan Huster, Peter Dabrock
Genetic tests can detect the predisposition to various diseases. The demand for gene diagnostics and corresponding prophylactic measures is increasing steadily. In the German healthcare system, however, legal uncertainties exist as to whether a mere risk of disease is reason enough to bear the costs for prophylactic measures. When medically effective prophylactic measures are available in certain cancer diseases, such as in hereditary breast cancer, the current practice of deciding in individual cases appears to be insufficient...
August 9, 2017: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/28794804/brca-mutation-in-ovarian-cancer-testing-implications-and-treatment-considerations
#6
REVIEW
Robert T Neff, Leigha Senter, Ritu Salani
Ovarian cancer is a heterogeneous disease that encompasses a number of different cellular subtypes, the most common of which is high-grade serous ovarian cancer (HGSOC). Still today, ovarian cancer is primarily treated with chemotherapy and surgery. Recent advances in the hereditary understanding of this disease have shown a significant role for the BRCA gene. While only a minority of patients with HGSOC will have a germline BRCA mutation, many others may have tumor genetic aberrations within BRCA or other homologous recombination proteins...
August 2017: Therapeutic Advances in Medical Oncology
https://www.readbyqxmd.com/read/28791541/cancer-counseling-of-low-income-limited-english-proficient-latina-women-using-medical-interpreters-implications-for-shared-decision-making
#7
Daniella Kamara, Jon Weil, Janey Youngblom, Claudia Guerra, Galen Joseph
In cancer genetic counseling (CGC), communication across language and culture challenges the model of practice based on shared decision-making. To date, little research has examined the decision-making process of low-income, limited English proficiency (LEP) patients in CGC. This study identified communication patterns in CGC sessions with this population and assessed how these patterns facilitate or inhibit the decision-making process during the sessions. We analyzed 24 audio recordings of CGC sessions conducted in Spanish via telephone interpreters at two public hospitals...
August 9, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28790484/inherited-predisposition-to-prostate-cancer-from-gene-discovery-to-clinical-impact
#8
Kathleen A Cooney
Family history of prostate cancer is one of the three most important risk factors for the disease in addition to age and race. Yet despite the recognition of this significant heritable component, it has been challenging to identify the genes associated with prostate cancer predisposition. Initial approaches focused on the collection of multiplex prostate cancer families. However, despite more than 20 years of linkage studies, few genes have been identified that account for a significant number of hereditary prostate cancer families...
2017: Transactions of the American Clinical and Climatological Association
https://www.readbyqxmd.com/read/28781790/somatic-brca1-associated-protein-1-bap1-loss-is-an-early-and-rare-event-in-esophageal-adenocarcinoma
#9
Heike Loeser, Dirk Waldschmidt, Fabian Kuetting, Simon Schallenberg, Thomas Zander, Elfriede Bollschweiler, Arnulf Hoelscher, Katharina Weckermann, Patrick Plum, Hakan Alakus, Reinhard Buettner, Alexander Quaas
Esophageal cancer is the eighth most common malignant tumor worldwide, and the number of incidences of esophageal adenocarcinoma is increasing in the Western world. Despite improvements in perioperative treatment, the overall survival rate of patients with esophageal adenocarcinoma remains poor. Breast cancer type 1 susceptibility protein (BRCA1)-associated protein (BAP1) is located on chromosome 3p21, and it is an enzyme with ubiquitin carboxyl hydrolase activity that regulates cell growth. It interacts with BRCA1, and the nuclear localization of BAP1 is required for its tumor suppressor function...
August 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28776604/the-role-of-diet-physical-activity-body-fatness-and-breastfeeding-in-breast-cancer-in-young-women-epidemiological-evidence
#10
I Isabelle Romieu, A Amadou, V Chajes
The incidence of breast cancer (BC) is rising worldwide, with an increase in aggressive neoplasias in young women. Traditionally, BC in young women has been thought to be etiologically driven, primarily by genetic/hereditary factors. However, these factors explain only a small proportion of BCs, pointing to a role of the environment. Suspected factors responsible for this increase include lifestyle changes, notably alcohol consumption, diet with high intake of refined carbohydrates and saturated fat and low intake of polyunsaturated fatty acids (PUFA), fiber and vitamins (such as folate, vitamin D, and carotenoids), low physical activity, and body fatness, all of which may act from childhood and adolescent years through adulthood...
July 2017: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
https://www.readbyqxmd.com/read/28771247/clinical-penetrance-in-hereditary-hemochromatosis-estimates-of-the-cumulative-incidence-of-severe-liver-disease-among-hfe-c282y-homozygotes
#11
REVIEW
Scott D Grosse, Lyle C Gurrin, Nadine A Bertalli, Katrina J Allen
Iron overload (hemochromatosis) can cause serious, symptomatic disease that is preventable if detected early and managed appropriately. The leading cause of hemochromatosis in populations of predominantly European ancestry is homozygosity of the C282Y variant in the HFE gene. Screening of adults for iron overload or associated genotypes is controversial, largely because of a belief that severe phenotypes are uncommon, although cascade testing of first-degree relatives of patients is widely endorsed. We contend that severe liver disease (cirrhosis or hepatocellular cancer) is not at all uncommon among older males with hereditary hemochromatosis...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28766222/breast-cancer-disparities-socioeconomic-factors-versus-biology
#12
Lisa A Newman
Disparities in poverty and health care access barriers have a negative impact on the health and wellness of population subsets that bear a disproportionate share of these socioeconomic disadvantages, such as African Americans and Hispanic/Latina Americans. The more advanced stage distribution of breast cancer in these two population subsets is likely related to imbalance in distribution of socioeconomic resources in the United States. However, differences in the breast cancer burden of population subsets defined by racial/ethnic identity are also influenced by race/ethnicity-associated variation in tumor biology and hereditary susceptibility...
August 1, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28766213/expanded-gene-panel-use-for-women-with-breast-cancer-identification-and-intervention-beyond-breast-cancer-risk
#13
Erin O'Leary, Daniela Iacoboni, Jennifer Holle, Scott T Michalski, Edward D Esplin, Shan Yang, Karen Ouyang
BACKGROUND: Clinicians ordering multi-gene next-generation sequencing panels for hereditary breast cancer risk have a variety of test panel options. Many panels include lesser known breast cancer genes or genes associated with other cancers. The authors hypothesized that using broader gene panels increases the identification of clinically significant findings, some relevant and others incidental to the testing indication. They examined clinician ordering patterns and compared the yield of pathogenic or likely pathogenic (P/LP) variants in non-BRCA genes of female breast cancer patients...
August 1, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28766206/the-american-society-of-breast-surgeons-and-quality-payment-programs-ranking-defining-and-benchmarking-more-than-1-million-patient-quality-measure-encounters
#14
Jeffrey Landercasper, Lisa Bailey, Robert Buras, Ed Clifford, Amy C Degnim, Leila Thanasoulis, Oluwadamilola M Fayanju, Judy A Tjoe, Roshni Rao
BACKGROUND: To identify and remediate gaps in the quality of surgical care, the American Society of Breast Surgeons (ASBrS) developed surgeon-specific quality measures (QMs), built a patient registry, and nominated itself to become a Center for Medicare and Medicaid Services (CMS) Qualified Clinical Data Registry (QCDR), thereby linking surgical performance to potential reimbursement and public reporting. This report provides a summary of the program development. METHODS: Using a modified Delphi process, more than 100 measures of care quality were ranked...
August 1, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28766202/preoperative-panel-testing-for-hereditary-cancer-syndromes-does-not-significantly-impact-time-to-surgery-for-newly-diagnosed-breast-cancer-patients-compared-with-brca1-2-testing
#15
Amy E Murphy, Lala Hussain, Ching Ho, Erik Dunki-Jacobs, David Lee, Ashley Tameron, Karen Huelsman, Courtney Rice, Barbara A Wexelman
BACKGROUND: This study seeks to determine whether there is a delay in time to surgery in breast cancer patients with panel tests compared with traditional BRCA testing. METHODS: This study was a retrospective review of women diagnosed with breast cancer who underwent genetic evaluation from our institution's Genetic Counselor Database from January 2013 to August 2015. Patients were excluded if they were male, clinical information was unavailable, the patient underwent neoadjuvant chemotherapy, had a diagnosis of recurrent breast cancer during time of study, or had postoperative genetics evaluation...
August 1, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28764791/metachronous-colorectal-carcinoma-with-massive-submucosal-invasion-detected-by-annual-surveillance-in-a-lynch-syndrome-patient-a-case-report
#16
Masashi Utsumi, Kohji Tanakaya, Yutaka Mushiake, Tomoyoshi Kunitomo, Isao Yasuhara, Fumitaka Taniguchi, Takashi Arata, Koh Katsuda, Hideki Aoki, Hitoshi Takeuchi
BACKGROUND: Lynch syndrome is the most common form of hereditary colorectal carcinoma. It is characterized by the presence of germline mutations in DNA mismatch repair genes. Mutation carriers have a lifetime risk of developing colorectal carcinoma of approximately 80%. Current treatment guidelines recommend periodic surveillance for colorectal carcinoma in patients with Lynch syndrome. However, the optimal interval between colonoscopies has not yet been determined. CASE PRESENTATION: We describe a 54-year-old man with Lynch syndrome who was undergoing annual colonoscopy surveillance for the development of colorectal carcinoma...
August 1, 2017: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28763932/-the-progress-and-prospect-of-application-of-genetic-testing-technology-based-gene-detection-technology-in-the-diagnosis-and-treatment-of-hereditary-cancer
#17
J X He, Y F Jiang
Hereditary cancer is caused by specific pathogenic gene mutations. Early detection and early intervention are the most effective ways to prevent and control hereditary cancer. High-throughput sequencing based genetic testing technology (NGS) breaks through the restrictions of pedigree analysis, provide a convenient and efficient method to detect and diagnose hereditary cancer. Here, we introduce the mechanism of hereditary cancer, summarize, discuss and prospect the application of NGS and other genetic tests in the diagnosis of hereditary retinoblastoma, hereditary breast and ovarian cancer syndrome, hereditary colorectal cancer and other complex and rare hereditary tumors...
August 6, 2017: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/28755188/liver-cancer-in-tyrosinemia-type-1
#18
Willem G van Ginkel, Jan P Pennings, Francjan J van Spronsen
Hereditary Tyrosinemia type I (HT1) is clinically mainly characterised by severe liver disease. Most patients present in their first months of life with liver failure, but others can present later with issues of compensated cirrhosis, renal tubulopathy or acute intermittent porphyria. If patients survive the acute phase with liver failure or if they present later with compensated cirrhosis, they often develop hepatocellular carcinoma early but also later in life. The course of the disease changed after the introduction of 2-(2 nitro-4-3 trifluoro-methylbenzoyl)-1, 3-cyclohexanedione (NTBC), which blocks the tyrosine degradation pathway at an earlier step...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755183/molecular-pathogenesis-of-liver-injury-in-hereditary-tyrosinemia-1
#19
Robert M Tanguay, Francesca Angileri, Arndt Vogel
Untreated HT1 rapidly degenerates into very severe liver complications often resulting in liver cancer. The molecular basis of the pathogenic process in HT1 is still unclear. The murine model of FAH-deficiency is a suitable animal model, which represents all phenotypic and biochemical manifestations of the human disease on an accelerated time scale. After removal of the drug 2-(2-N-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), numerous signaling pathways involved in cell proliferation, differentiation and cancer are rapidly deregulated in FAH deficient mice...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28752268/erratum-to-a-new-hereditary-colorectal-cancer-network-in-the-middle-east-and-eastern-mediterranean-countries-to-improve-care-for-high-risk-families
#20
Zeinab Ghorbanoghli, Carol Jabari, Walid Sweidan, Wail Hammoudeh, George Cortas, Ala I Sharara, Amal Abedrabbo, Ijad Hourani, Bahareh Mahjoubi, Keivan Majidzadeh, Nurdan Tözün, Hadia Ziada-Bouchaar, Waseem Hamoudi, Osama Diab, Hamid Reza Khorram Khorshid, Henry Lynch, Hans Vasen
No abstract text is available yet for this article.
July 27, 2017: Familial Cancer
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