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Hereditary cancer

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https://www.readbyqxmd.com/read/29138373/-i-key-points-of-the-guidelines-for-clinical-practice-of-hereditary-colorectal-cancer
#1
Hideyuki Ishida, Tatsuro Yamaguchi, Kohji Tanakaya, Kiwamu Akagi, Shigeki Sekine, Hideki Shimodaira, Naohiro Tomita, Kenichi Sugihara, Toshiaki Watanabe
No abstract text is available yet for this article.
November 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29134539/germline-variant-in-msx1-identified-in-a-dutch-family-with-clustering-of-barrett-s-esophagus-and-esophageal-adenocarcinoma
#2
A M J van Nistelrooij, R van Marion, W F J van Ijcken, A de Klein, A Wagner, K Biermann, M C W Spaander, J J B van Lanschot, W N M Dinjens, B P L Wijnhoven
The vast majority of esophageal adenocarcinoma cases are sporadic and caused by somatic mutations. However, over the last decades several families have been identified with clustering of Barrett's esophagus and esophageal adenocarcinoma. This observation suggests that one or more hereditary factors may play a role in the initiation of Barrett's esophagus and esophageal adenocarcinoma in these families. A Dutch family with clustering of Barrett's esophagus and esophageal adenocarcinoma was identified. Normal DNA obtained from the proband diagnosed with Barrett's esophagus was analyzed with SNP array and exome sequencing...
November 13, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29133258/when-should-patients-undergo-genetic-testing-for-hereditary-colon-cancer-syndromes
#3
Gregory Idos, Samir Gupta
No abstract text is available yet for this article.
November 10, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29132562/breast-cancer-disparities-how-can-we-leverage-genomics-to-improve-outcomes
#4
REVIEW
Melissa B Davis, Lisa A Newman
Breast cancer mortality rates are higher in African American compared with white American women. Disproportionately rising incidence rates, coupled with higher rates of biologically aggressive disease among African Americans is resulting in a widening of the mortality disparity. Higher rates of triple-negative breast cancer among African American women, as well as women from western sub-Saharan Africa, has prompted questions regarding the role of African ancestry as a marker of hereditary susceptibility for specific disease phenotypes...
January 2018: Surgical Oncology Clinics of North America
https://www.readbyqxmd.com/read/29131691/a-new-mutation-of-the-cdh1-gene-in-a-patient-with-an-aggressive-signet-ring-cell-carcinoma-of-the-stomach
#5
Laura Caggiari, Gianmaria Miolo, Vincenzo Canzonieri, Mariangela De Zorzi, Lara Alessandrini, Giuseppe Corona, Renato Cannizzaro, Davide Adriano Santeufemia, Antonio Cossu, Angela Buonadonna, Valli De Re
Germline mutations in CDH1, the gene coding for the E-cadherin adhesion protein, are known to cause hereditary diffuse gastric cancer. We identified a new truncating germline mutation (p.Asp538Thrfs*19) in exon 11 of the CDH1 gene in a 41-year-old male with a diffuse gastric cancer. Although he had no parental history of gastric cancer, the co-segregation study in the family detected the same mutation in his healthy 31-year-old brother. The mutation affects one of the extracellular repeat (CAD repeats) domains which is essential for the homophilic binding specificity that directs "E-cadherin" to bind with itself each others...
November 13, 2017: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/29125386/investigating-uncertainty-in-genetic-counseling-encounters-managing-information-about-genetic-cancer-risk
#6
Emily A Rauscher
The Theory of Motivated Information Management (TMIM) was used to investigate how individuals at increased risk of developing hereditary cancer seek information from genetic counselors. Results show the TMIM model fit the data well in predicting participants' intentions to seek information from genetic counselors. Participants felt an uncertainty discrepancy that elicited feelings of anxiety, which in turn negatively predicted both outcome expectancies and efficacy assessments. Efficacy assessments, but not anxiety, significantly predicted participants' intentions to seek information from a genetic counselor in the future...
November 10, 2017: Journal of Health Communication
https://www.readbyqxmd.com/read/29124494/information-and-support-needs-of-young-women-regarding-breast-cancer-risk-and-genetic-testing-adapting-effective-interventions-for-a-novel-population
#7
Suzanne C O'Neill, Chalanda Evans, Rebekah J Hamilton, Beth N Peshkin, Claudine Isaacs, Sue Friedman, Kenneth P Tercyak
Young women from hereditary breast and ovarian cancer (HBOC) families face a unique set of challenges in managing their HBOC risk, where obtaining essential information to inform decision making is key. Previous work suggests that this need for specific health information also comes at a time of heightened distress and greater individuation from family. In this report, we describe our adaptation of a previously-studied behavioral intervention for this population, utilizing a systematic approach outlined by the Centers for Disease Control and Prevention...
November 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29123579/blood-serum-levels-of-e-cadherin-in-patients-with-colorectal-cancer
#8
Dariusz Cepowicz, Konrad Zaręba, Anna Pryczynicz, Tomasz Dawidziuk, Joanna Żurawska, Joanna Hołody-Zaręba, Mariusz Gryko, Bogusław Kędra
Introduction: Colorectal cancer is the second most common cancer in terms of incidence in Poland. It is also the second most common cause of cancer deaths in men and the third women. In 75-80% of cases, depending on sources, it is of an occasional nature, and in the remaining 20-25% it has a hereditary character. Aim: To compare the levels of E-cadherin in blood serum with some histopathological and clinical features. E-cadherin is an adhesion molecule, loss of function of which is suspected to influence both cancer progression and metastasis...
2017: Przegla̜d Gastroenterologiczny
https://www.readbyqxmd.com/read/29116469/brca1-deficiency-is-a-recurrent-event-in-early-onset-triple-negative-breast-cancer-a-comprehensive-analysis-of-germline-mutations-and-somatic-promoter-methylation
#9
Rafael Canfield Brianese, Kivvi Duarte de Mello Nakamura, Fernanda Gabriella Dos Santos Ramos de Almeida, Rodrigo Fernandes Ramalho, Bruna Durães de Figueiredo Barros, Elisa Napolitano E Ferreira, Maria Nirvana da Cruz Formiga, Victor Piana de Andrade, Vladmir Claudio Cordeiro de Lima, Dirce Maria Carraro
PURPOSE: BRCA1 germline mutation is closely associated with triple-negative breast cancer. BRCA deficiency leads to impaired DNA repair and tumor development, and understanding this deficiency, in both hereditary and sporadic scenarios, is of great clinical and biological interest. Here, we investigated germline or somatic events that might lead to BRCA1 impairment in triple-negative breast cancer. We also analyzed the clinical implications associated with BRCA deficiency. METHODS: Next-generation sequencing for the BRCA1/2 genes and multiplex ligation-dependent probe amplification (MLPA) for the BRCA1 gene were performed for mutation screening...
November 7, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29116164/zinc-enhances-the-cellular-energy-supply-to-improve-cell-motility-and-restore-impaired-energetic-metabolism-in-a-toxic-environment-induced-by-ota
#10
Xuan Yang, Haomiao Wang, Chuchu Huang, Xiaoyun He, Wentao Xu, Yunbo Luo, Kunlun Huang
Exogenous nutrient elements modulate the energetic metabolism responses that are prerequisites for cellular homeostasis and metabolic physiology. Although zinc is important in oxidative stress and cytoprotection processes, its role in the regulation of energetic metabolism remains largely unknown. In this study, we found that zinc stimulated aspect in cell motility and was essential in restoring the Ochratoxin A (OTA)-induced energetic metabolism damage in HEK293 cells. Moreover, using zinc supplementation and zinc deficiency models, we observed that zinc is conducive to mitochondrial pyruvate transport, oxidative phosphorylation, carbohydrate metabolism, lipid metabolism and ultimate energy metabolism in both normal and toxic-induced oxidative stress conditions in vitro, and it plays an important role in restoring impaired energetic metabolism...
November 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29115925/synchronous-occurrence-of-hereditary-gastric-adenocarcinoma-gastrointestinal-stromal-tumor-and-esophageal-small-cell-and-squamous-carcinoma-in-situ-an-extremely-rare-case-report
#11
Huijie Fan, Pei Lu, Li Xu, Yanru Qin, Jing Li
BACKGROUND: Hereditary diffuse gastric carcinoma (HDGC) accounts for 1-3% of all gastric carcinomas. Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the gastrointestinal (GI) tract but they comprise fewer than 1% of all GI malignancies. Small-cell carcinoma (SmCC) is a rare histological type of esophageal carcinoma, accounting for 0.4% to 2.8% of all esophageal tumors. Co-occurrence of SmCC with esophageal tumors caused by squamous carcinoma is also very uncommon...
November 7, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29114914/a-bayesian-scoring-rule-on-clustered-event-data-for-familial-risk-assessment-an-example-from-colorectal-cancer-screening
#12
Anna K Rieger, Ulrich R Mansmann
Colorectal cancer screening is well established. The identification of high risk populations is the key to implement effective risk-adjusted screening. Good statistical approaches for risk prediction do not exist. The family's colorectal cancer history is used for identification of high risk families and usually assessed by a questionnaire. This paper introduces a prediction algorithm to designate a family for colorectal cancer risk and discusses its statistical properties. The new algorithm uses Bayesian reasoning and a detailed family history illustrated by a pedigree and a Lexis diagram...
November 8, 2017: Biometrical Journal. Biometrische Zeitschrift
https://www.readbyqxmd.com/read/29113157/lack-of-microsatellite-instability-in-gastrointestinal-stromal-tumors
#13
Nathália C Campanella, Cristovam Scapulatempo-Neto, Lucas Faria Abrahão-Machado, Antônio Talvane Torres De Oliveira, Gustavo N Berardinelli, Denise Peixoto Guimarães, Rui M Reis
The microsatellite instability (MSI) phenotype may constitute an important biomarker for patient response to immunotherapy, particularly to anti-programmed death-1 inhibitors. MSI is a type of genomic instability caused by a defect in DNA mismatch repair (MMR) proteins, which is present mainly in colorectal cancer and its hereditary form, hereditary nonpolyposis colorectal cancer. Gastrointestinal stromal tumor (GIST) development is associated with activating mutations of KIT proto-oncogene receptor tyrosine kinase (KIT) or platelet-derived growth factor receptor α (PDGFRA), which are oncogenes that predict the response to imatinib mesylate...
November 2017: Oncology Letters
https://www.readbyqxmd.com/read/29108258/transcriptional-signature-of-lymphoblastoid-cell-lines-of-brca1-brca2-and-non-brca1-2-high-risk-breast-cancer-families
#14
Marie-Christine Pouliot, Charu Kothari, Charles Joly-Beauparlant, Yvan Labrie, Geneviève Ouellette, Jacques Simard, Arnaud Droit, Francine Durocher
Approximately 25% of hereditary breast cancer cases are associated with a strong familial history which can be explained by mutations in BRCA1 or BRCA2 and other lower penetrance genes. The remaining high-risk families could be classified as BRCAX (non-BRCA1/2) families. Gene expression involving alternative splicing represents a well-known mechanism regulating the expression of multiple transcripts, which could be involved in cancer development. Thus using RNA-seq methodology, the analysis of transcriptome was undertaken to potentially reveal transcripts implicated in breast cancer susceptibility and development...
October 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/29104862/multiplex-partial-nephrectomy-repeat-partial-nephrectomy-and-salvage-partial-nephrectomy-remain-the-primary-treatment-in-multifocal-and-hereditary-kidney-cancer
#15
REVIEW
Joseph A Baiocco, Adam R Metwalli
The standard of care treatment for solitary renal cell carcinoma (RCC) tumors 4 cm or less is partial nephrectomy (PNx). However, multifocal kidney cancer presents unique challenges for treating physicians. Historically, total nephrectomy and hemodialysis with possible renal transplant later was the primary therapeutic strategy for these patients. Later, as nephron sparing surgical approaches improved, PNx became the standard of care for patients presenting with multifocal and hereditary RCC. Surgeries to remove multiple renal tumors simultaneously produce different perioperative outcomes and increased risk of complications...
2017: Frontiers in Oncology
https://www.readbyqxmd.com/read/29104286/leptin-regulation-of-the-p53-hif1%C3%AE-pkm2-aromatase-axis-in-breast-adipose-stromal-cells-a-novel-mechanism-for-the-obesity-breast-cancer-link
#16
H Zahid, K Subbaramaiah, N M Iyengar, X K Zhou, I-C Chen, P Bhardwaj, A Gucalp, M Morrow, C A Hudis, A J Dannenberg, K A Brown
BACKGROUND/OBJECTIVES: Obesity (body mass index (BMI) ⩾30) is associated with an increased risk of estrogen-dependent breast cancer after menopause. Levels of aromatase, the rate-limiting enzyme in estrogen biosynthesis, are elevated in breast tissue of obese women. Recently, the regulation of aromatase by the p53-HIF1α/PKM2 axis was characterized in adipose stromal cells (ASCs) of women with Li-Fraumeni Syndrome, a hereditary cancer syndrome that predisposes to estrogen-dependent breast cancer...
November 6, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29103540/emerging-concepts-in-gastric-neoplasia-heritable-gastric-cancers-and-polyposis-disorders
#17
REVIEW
Rachel S van der Post, Fátima Carneiro
Hereditary gastric cancer is a relatively rare disease with specific clinical and histopathologic characteristics. Hereditary gastric cancer of the diffuse type is predominantly caused by germline mutations in CDH1. The inherited cause of familial intestinal gastric cancer is unknown. Gastric adenocarcinoma and proximal polyposis of the stomach is a hereditary cancer syndrome caused by germline mutations in promoter 1B of APC. Other well-defined cancer syndromes, such as Lynch, Li-Fraumeni, and hereditary breast or ovarian cancer syndromes, are associated with increased risk of gastric cancer...
December 2017: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/29103325/myofibrillogenesis-regulator-1-mr-1-a-potential-therapeutic-target-for-cancer-and-pnkd
#18
Junxia Wang, Wuli Zhao, Hong Liu, Hongwei He, Rongguang Shao
Human myofibrillogenesis regulator 1 (MR-1) is a functional gene also known as paroxysmal nonkinesigenic dyskinesia (PNKD). It is localized on human chromosome 2q35, and three different isomers, MR-1L, MR-1M, and MR-1S, are formed by alternative splicing. MR-1S promotes cardiac hypertrophy and is closely related to cancer. MR-1S is overexpressed in hematologic and solid malignancies, such as hepatoma, breast cancer, and chronic myelogenous leukemia. MR-1S causes disordered cell differentiation, initiates malignant transformation and accelerates metastasis...
November 6, 2017: Journal of Drug Targeting
https://www.readbyqxmd.com/read/29101607/development-of-a-high-risk-pancreatic-screening-clinic-using-3-0%C3%A2-t-mri
#19
Chad A Barnes, Elizabeth Krzywda, Shannon Lahiff, Dena McDowell, Kathleen K Christians, Paul Knechtges, Parag Tolat, Mark Hohenwalter, Kulwinder Dua, Abdul H Khan, Douglas B Evans, Jennifer Geurts, Susan Tsai
Selective screening for pancreatic cancer (PC) has been proposed. We describe the establishment of a comprehensive multidisciplinary screening program using 3.0 T MRI. Criteria for screening included the presence of PC in: ≥ 2 first degree relatives (FDR), 1 FDR and 1 s degree relative (SDR), ≥ 3 any degree relatives (ADR), or any known hereditary cancer syndrome with increased PC risk. Imaging with 3.0 T MRI was performed routinely and endoscopic ultrasound was used selectively. Screening was completed in 75 patients (pts)...
November 3, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29097232/cancer-risk-reducing-opportunities-in-gynecologic-surgery
#20
REVIEW
Carolyn Piszczek, Jun Ma, Claire H Gould, Paul Tseng
This review article discusses cancer risk-reducing opportunities in gynecologic surgery. We cover strategies to reduce ovarian and uterine cancer risk by presenting general practice guidelines and expanding on the literature behind clinical decision points. We address populations of women at increased hereditary risk and those at population risk. We present discussions on the role of gynecologic surgery, specifically, risk-reducing salpingo-oophorectomy, prophylactic salpingectomy with delayed oophorectomy, concomitant hysterectomy, opportunistic salpingectomy, and bilateral tubal ligation...
October 30, 2017: Journal of Minimally Invasive Gynecology
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