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Lynch syndrome

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https://www.readbyqxmd.com/read/28441855/-correlation-between-mismatch-repair-proteins-status-and-clinicopathological-characteristics-in-sporadic-colorectal-cancer-patients
#1
Z T Xiao, R X Zhang, Y Zhao, J H Peng, S X Lu, H Z Zhang, P R Ding, X J Wu, Z H Lu, L R Li, D S Wan, Z Z Pan, G Chen
Objective: To explore the expression of mismatch repair (MMR) proteins in sporadic colorectal cancer (SCRC) patients, and its association with clinicopathological characteristics of SCRC. Methods: Patients with histologically confirmed colorectal cancer were consecutively recruited between December 2011 and June 2015 at Sun Yat-sen University Cancer Center. The exclusion criteria included multiple primary colorectal tumors, hereditary colorectal cancer (including Lynch syndrome, familial adenomatous polyposis), and the patients without the MMR proteins status tested...
April 25, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28434157/general-practitioner-attitudes-towards-prescribing-aspirin-to-carriers-of-lynch-syndrome-findings-from-a-national-survey
#2
Samuel G Smith, Robbie Foy, Jennifer McGowan, Lindsay C Kobayashi, John Burn, Karen Brown, Lucy Side, Jack Cuzick
A dose non-inferiority study comparing 100 mg, 300 mg and 600 mg of aspirin for cancer prevention among Lynch Syndrome carriers is underway (Colorectal Adenoma/Carcinoma Prevention Programme trial 3, CaPP3). To guide implementation of the findings, we investigated general practitioner (GP) attitudes towards aspirin prescribing for Lynch Syndrome carriers. We surveyed 1007 UK GPs (9.6% response rate). Using a within-subjects design, GPs read a statement on harms and benefits of aspirin and indicated their willingness to prescribe aspirin at three doses (100 mg, 300 mg, 600 mg)...
April 22, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28426643/incidence-and-trends-of-infections-with-pathogens-transmitted-commonly-through-food-and-the-effect-of-increasing-use-of-culture-independent-diagnostic-tests-on-surveillance-foodborne-diseases-active-surveillance-network-10-u-s-sites-2013-2016
#3
Ellyn P Marder, Paul R Cieslak, Alicia B Cronquist, John Dunn, Sarah Lathrop, Therese Rabatsky-Ehr, Patricia Ryan, Kirk Smith, Melissa Tobin-D'Angelo, Duc J Vugia, Shelley Zansky, Kristin G Holt, Beverly J Wolpert, Michael Lynch, Robert Tauxe, Aimee L Geissler
Foodborne diseases represent a substantial public health concern in the United States. CDC's Foodborne Diseases Active Surveillance Network (FoodNet) monitors cases reported from 10 U.S. sites* of laboratory-diagnosed infections caused by nine enteric pathogens commonly transmitted through food. This report describes preliminary surveillance data for 2016 on the nine pathogens and changes in incidences compared with 2013-2015. In 2016, FoodNet identified 24,029 infections, 5,512 hospitalizations, and 98 deaths caused by these pathogens...
April 21, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28422960/predicting-the-impact-of-lynch-syndrome-causing-missense-mutations-from-structural-calculations
#4
Sofie V Nielsen, Amelie Stein, Alexander B Dinitzen, Elena Papaleo, Michael H Tatham, Esben G Poulsen, Maher M Kassem, Lene J Rasmussen, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen
Accurate methods to assess the pathogenicity of mutations are needed to fully leverage the possibilities of genome sequencing in diagnosis. Current data-driven and bioinformatics approaches are, however, limited by the large number of new variations found in each newly sequenced genome, and often do not provide direct mechanistic insight. Here we demonstrate, for the first time, that saturation mutagenesis, biophysical modeling and co-variation analysis, performed in silico, can predict the abundance, metabolic stability, and function of proteins inside living cells...
April 19, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28421339/small-bowel-adenocarcinoma-complicating-crohn-s-disease-a-single-centre-experience-emphasizing-the-importance-of-screening-for-dysplasia
#5
Chloé Grolleau, Nicolas M Pote, Nathalie S Guedj, Magaly Zappa, Nathalie Theou-Anton, Yoram Bouhnik, Yves Panis, Dominique L Cazals-Hatem
Small bowel adenocarcinoma (SBA) complicating Crohn's disease (CD) is rare and generally found incidentally on surgical specimens. We report our experience in CD-associated SBA observed this last decade in a tertiary referral centre in order to update its incidence, clinical presentation and pathological features. All SBAs diagnosed in patients who underwent surgery for CD between 2006 and 2016 were retrospectively included. Clinico-pathological characteristics were reviewed, and follow-up was updated. SBA was diagnosed in 9 (1...
April 18, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28416640/microsatellite-analysis-of-sporadic-and-hereditary-gynaecological-cancer-in-routine-diagnostics
#6
Laura Libera, Nora Sahnane, Ileana Wanda Carnevali, Laura Cimetti, Roberta Cerutti, Anna Maria Chiaravalli, Cristina Riva, Maria Grazia Tibiletti, Fausto Sessa, Daniela Furlan
Microsatellite instability (MSI) testing is tricky in gynaecological cancers (GC). Thus, we aimed to describe the instability patterns to improve MSI test interpretation in sporadic and hereditary GCs. Ninety-five cases, including uterine and ovarian cancers, with known genetic and immunohistochemical (IHC) features, were analysed for MSI by a mononucleotide repeats pentaplex (MRP). We identified 13 ambiguous cases that did not fully meet MSI criteria ('borderline' cases, B-MSI), which were mainly represented by MSH2/MSH6-deficient and Lynch syndrome cases...
April 17, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28411145/current-and-future-role-of-genetic-screening-in-gynecologic-malignancies
#7
REVIEW
Kari L Ring, Christine Garcia, Martha H Thomas, Susan C Modesitt
The world of hereditary cancers has seen an exponential growth in recent years. While Hereditary Breast and Ovarian Cancer and Lynch syndrome account for the majority of mutations encountered by gynecologists, newly identified deleterious genetic mutations continue to be unearthed with their associated risks of malignancies. However, these advances in genetic cancer predispositions then force practitioners and their patients to confront the uncertainties of these less commonly identified mutations and the fact that there is limited evidence to guide them in expected cancer risk and appropriate risk reduction strategies...
April 11, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28407411/risk-of-metachronous-colorectal-cancer-following-colectomy-in-lynch-syndrome-a-systematic-review-and-meta-analysis
#8
REVIEW
Chukwuemeka C Anele, Samuel O Adegbola, Alan Askari, Arun Rajendran, Susan K Clark, Andrew Latchford, Omar D Faiz
AIM: Lynch syndrome (LS) accounts for 2-4% of all colorectal cancer (CRC) cases, and is associated with an increased risk of developing metachronous colorectal cancer (mCRC). The role of extended colectomy (EXTC) in LS CRC is controversial. There is limited evidence comparing the risk of mCRC following segmental colectomy (SEGC) and EXTC. The objective of this systematic review is to evaluate the risk of developing mCRC following SEGC and EXTC for LS CRC and endoscopic compliance. METHOD: A systematic review of major databases was performed using predefined terms...
April 13, 2017: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
https://www.readbyqxmd.com/read/28376523/lynch-syndrome-and-endometrial-cancer
#9
Sareena Singh, Kimberly E Resnick
In patients with Lynch syndrome, gynecologic cancer often can be the first presenting malignancy. In this review, we summarize the genetics of Lynch syndrome and review the various modalities of identifying patients at risk for this syndrome. The clinical characteristics of Lynch-associated endometrial cancer and screening and risk-reducing strategies also are described.
April 2017: Southern Medical Journal
https://www.readbyqxmd.com/read/28373404/precancer-atlas-to-drive-precision-prevention-trials
#10
Avrum Spira, Matthew B Yurgelun, Ludmil Alexandrov, Anjana Rao, Rafael Bejar, Kornelia Polyak, Marios Giannakis, Ali Shilatifard, Olivera J Finn, Madhav Dhodapkar, Neil E Kay, Esteban Braggio, Eduardo Vilar, Sarah A Mazzilli, Timothy R Rebbeck, Judy E Garber, Victor E Velculescu, Mary L Disis, Douglas C Wallace, Scott M Lippman
Cancer development is a complex process driven by inherited and acquired molecular and cellular alterations. Prevention is the holy grail of cancer elimination, but making this a reality will take a fundamental rethinking and deep understanding of premalignant biology. In this Perspective, we propose a national concerted effort to create a Precancer Atlas (PCA), integrating multi-omics and immunity - basic tenets of the neoplastic process. The biology of neoplasia caused by germline mutations has led to paradigm-changing precision prevention efforts, including: tumor testing for mismatch repair (MMR) deficiency in Lynch syndrome establishing a new paradigm, combinatorial chemoprevention efficacy in familial adenomatous polyposis (FAP), signal of benefit from imaging-based early detection research in high-germline risk for pancreatic neoplasia, elucidating early ontogeny in BRCA1-mutation carriers leading to an international breast cancer prevention trial, and insights into the intricate germline-somatic-immunity interaction landscape...
April 1, 2017: Cancer Research
https://www.readbyqxmd.com/read/28371614/hypermutations-in-gliomas-a-potential-immunotherapy-target
#11
Gaetano Finocchiaro, Tiziana Langella, Cristina Corbetta, Serena Pellegatta
Checkpoint inhibitors, like ipilimumab, nivolumab, and pembrolizumab, have provided a breakthrough in cancer immunotherapy, such as in the treatment of melanoma and colorectal and lung cancer. The close relationship between the number of mutations (mutational load) and the response to checkpoint immunotherapy has been convincingly demonstrated in these cancers. Hypermutations in tumors are caused by environmental factors, like UV radiations or cigarette smoking, or by germinal mutations affecting genes of the Mismatch Repair (MMR) machinery, as in the Lynch syndrome...
February 2017: Discovery Medicine
https://www.readbyqxmd.com/read/28369810/new-epcam-founder-deletion-in-polish-population
#12
Dagmara Dymerska, Katarzyna Gołębiewska, Magdalena Kuświk, Helena Rudnicka, Rodney J Scott, Raewyn Billings, Andrzej Pławski, Paweł Boruń, Monika Siołek, Beata Kozak-Klonowska, Marek Szwiec, Ewa Kilar, Tomasz Huzarski, Tomasz Byrski, Jan Lubinski, Grzegorz Kurzawski
It is well known that founder mutations associated with cancer risk have useful implications for molecular diagnostics. We report the presence of a founder mutation in EPCAM involved in the etiology of Lynch syndrome (LS). The mutation extends nearly 8,7 kb (c.858 + 2478_*4507del) and is shared by eight Polish families. Family members suffered almost exclusively from colorectal cancer, however, pancreatic and gastric cancers were also apparent. Next to mutations c. 2041G>A in MLH1 gene and c.942+3A>T in MSH2, the deletion mutation encompassing EPCAM is one of the most common causative changes responsible for LS in Poland...
March 31, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28365877/elucidating-the-clinical-significance-of-two-pms2-missense-variants-coexisting-in-a-family-fulfilling-hereditary-cancer-criteria
#13
Maribel González-Acosta, Jesús Del Valle, Matilde Navarro, Bryony A Thompson, Sílvia Iglesias, Xavier Sanjuan, María José Paúles, Natàlia Padilla, Anna Fernández, Raquel Cuesta, Àlex Teulé, Guido Plotz, Juan Cadiñanos, Xavier de la Cruz, Francesc Balaguer, Conxi Lázaro, Marta Pineda, Gabriel Capellá
The clinical spectrum of germline mismatch repair (MMR) gene variants continues increasing, encompassing Lynch syndrome, Constitutional MMR Deficiency (CMMRD), and the recently reported MSH3-associated polyposis. Genetic diagnosis of these hereditary cancer syndromes is often hampered by the presence of variants of unknown significance (VUS) and overlapping phenotypes. Two PMS2 VUS, c.2149G>A (p.V717M) and c.2444C>T (p.S815L), were identified in trans in one individual diagnosed with early-onset colorectal cancer (CRC) who belonged to a family fulfilling clinical criteria for hereditary cancer...
April 1, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28353387/recent-developments-in-surgical-pathology-of-the-uterine-corpus
#14
REVIEW
Krisztina Z Hanley, George G Birdsong, Marina B Mosunjac
There have been several updates recently on the classification of uterine tumors. Endometrial carcinomas have traditionally been divided into 2 types, but some are difficult to classify and do not fit readily into either of the currently recognized categories. The Cancer Genome Atlas Research Network has recently defined 4 new categories of endometrial cancer on the basis of mutational spectra, copy number alteration, and microsatellite instability, which might provide independent prognostic information beyond established risk factors...
April 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28351114/french-comment-on-article-virtual-chromoendoscopy-i-scan-detects-more-polyps-in-patients-with-lynch-syndrome-a-randomized-controlled-crossover-trial
#15
(no author information available yet)
No abstract text is available yet for this article.
April 2017: Endoscopy
https://www.readbyqxmd.com/read/28347324/pms2-gene-mutation-results-in-dna-mismatch-repair-system-failure-in-a-case-of-adult-granulosa-cell-tumor
#16
Wen-Chung Wang, Ya-Ting Lee, Yen-Chein Lai
BACKGROUND: Granulosa cell tumors are rare ovarian malignancies. Their characteristics include unpredictable indolent growth with malignant potential and late recurrence. Approximately 95% are of adult type. Recent molecular studies have characterized the FOXL2 402C > G mutation in adult granulosa cell tumor. Our previous case report showed that unique FOXL2 402C > G mutation and defective DNA mismatch repair system are associated with the development of adult granulosa cell tumor...
March 27, 2017: Journal of Ovarian Research
https://www.readbyqxmd.com/read/28343630/de-novo-truncating-mutations-in-the-last-and-penultimate-exons-of-ppm1d-cause-an-intellectual-disability-syndrome
#17
Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C Herkert, Elysa J Marco, Marjolein H Willemsen, Tjitske Kleefstra, Mark Hannibal, Joseph T Shieh, Sally Ann Lynch, Frances Flinter, David R FitzPatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury-Ecob, Raphael Bernier, Malin Kvarnung, E A Helena Magnusson, Marja W Wessels, Marjon A van Slegtenhorst, Kristin G Monaghan, Petra de Vries, Joris A Veltman, Christopher J Lord, Lisenka E L M Vissers, Bert B A de Vries
Intellectual disability (ID) is a highly heterogeneous disorder involving at least 600 genes, yet a genetic diagnosis remains elusive in ∼35%-40% of individuals with moderate to severe ID. Recent meta-analyses statistically analyzing de novo mutations in >7,000 individuals with neurodevelopmental disorders highlighted mutations in PPM1D as a possible cause of ID. PPM1D is a type 2C phosphatase that functions as a negative regulator of cellular stress-response pathways by mediating a feedback loop of p38-p53 signaling, thereby contributing to growth inhibition and suppression of stress-induced apoptosis...
April 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28336914/inhibition-of-serum-and-glucocorticoid-regulated-kinase-1-as-novel-therapy-for-cardiac-arrhythmia-disorders
#18
Vassilios J Bezzerides, Aifeng Zhang, Ling Xiao, Bridget Simonson, Santosh A Khedkar, Shiro Baba, Filomena Ottaviano, Stacey Lynch, Katherine Hessler, Alan C Rigby, David Milan, Saumya Das, Anthony Rosenzweig
Alterations in sodium flux (INa) play an important role in the pathogenesis of cardiac arrhythmias and may also contribute to the development of cardiomyopathies. We have recently demonstrated a critical role for the regulation of the voltage-gated sodium channel NaV1.5 in the heart by the serum and glucocorticoid regulated kinase-1 (SGK1). Activation of SGK1 in the heart causes a marked increase in both the peak and late sodium currents leading to prolongation of the action potential duration and an increased propensity to arrhythmia...
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28334914/clinical-utility-of-a-self-administered-questionnaire-for-assessment-of-hereditary-gynecologic-cancer
#19
Kenta Masuda, Akira Hirasawa, Haruko Irie-Kunitomi, Tomoko Akahane, Arisa Ueki, Yusuke Kobayashi, Wataru Yamagami, Hiroyuki Nomura, Fumio Kataoka, Eiichiro Tominaga, Kouji Banno, Nobuyuki Susumu, Daisuke Aoki
Background: A patient's medical history and familial cancer history are important information for assessing the risk of hereditary cancer. We have generated a self-administered questionnaire for patients with gynecologic cancer. This pilot study analyzed the usefulness of this questionnaire and the rates of patients that meet the Society of Gynecologic Oncology criteria in ovarian cancer and endometrial cancer patients. Method: Ovarian or endometrial cancer patients were recruited for this study...
December 23, 2017: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28334867/the-silent-mutation-mlh1-c-543c-t-resulting-in-aberrant-splicing-can-cause-lynch-syndrome-a-case-report
#20
Tatsuro Yamaguchi, Tomokazu Wakatsuki, Mari Kikuchi, Shin-Ichiro Horiguchi, Kiwamu Akagi
The proband was a 67-year-old man with transverse and sigmoid colon cancer. Microsatellite instability analysis revealed a high frequency of microsatellite instability, and immunohistochemical staining showed the absence of both MLH1 and PMS2 proteins in the sigmoid colon cancer tissue specimens from the patient. DNA sequencing revealed a nucleotide substitution c.543C>T in MLH1, but this variant did not substitute an amino acid. The MLH1 c.543C>T variant was located 3 bases upstream from the end of exon 6 and created a new splice donor site 4 bases upstream from the end of exon 6...
March 1, 2017: Japanese Journal of Clinical Oncology
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