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Lynch syndrome

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https://www.readbyqxmd.com/read/29783979/lynch-syndrome-associated-endometrial-carcinoma-with-mlh1-germline-mutation-and-mlh1-promoter-hypermethylation-a-case-report-and-literature-review
#1
Takanori Yokoyama, Kazuhiro Takehara, Nao Sugimoto, Keika Kaneko, Etsuko Fujimoto, Mika Okazawa-Sakai, Shinichi Okame, Yuko Shiroyama, Takashi Yokoyama, Norihiro Teramoto, Shozo Ohsumi, Shinya Saito, Kazuho Imai, Kokichi Sugano
BACKGROUND: Lynch syndrome is an autosomal dominant inherited disease caused by germline mutations in mismatch repair genes. Analysis for microsatellite instability (MSI) and immunohistochemistry (IHC) of protein expressions of disease-associated genes is used to screen for Lynch syndrome in endometrial cancer patients. When losses of both MLH1 and PMS2 proteins are observed by IHC, MLH1 promoter methylation analysis is conducted to distinguish Lynch syndrome-associated endometrial cancer from sporadic cancer...
May 21, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29778428/status-dystonicus-due-to-missense-variant-in-arx-diagnosis-and-management
#2
Kathleen M Gorman, Heather Cary, Laura Gaffney, Eva Forman, Dympna Waldron, Fowzy Al-Delami, Bryan J Lynch, Mary D King, Nicholas M Allen
Movement disorders are increasingly identified in infantile encephalopathies due to single gene disorders (e.g. SCN2A, CDKL5, ARX). The associated movement disorder can be challenging to recognise and treat. We report a 2 year-old boy with a background history of Ohtahara syndrome due to a missense variant in ARX (the aristaless-related homeobox gene) who subsequently developed status dystonicus. ARX is a transcription factor that plays a critical role in cortical neuronal development and is associated with a range of important neurodevelopmental disorders depending on the site of the pathogenic variant...
May 3, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29776633/molecular-diagnostics-in-colorectal-carcinoma-advances-and-applications-for-2018
#3
REVIEW
Amarpreet Bhalla, Muhammad Zulfiqar, Martin H Bluth
The molecular pathogenesis and classification of colorectal carcinoma are based on the traditional adenomaecarcinoma sequence, serrated polyp pathway, and microsatellite instability (MSI). The genetic basis for hereditary nonpolyposis colorectal cancer is the detection of mutations in the MLH1, MSH2, MSH6, PMS2, and EPCAM genes. Genetic testing for Lynch syndrome includes MSI testing, methylator phenotype testing, BRAF mutation testing, and molecular testing for germline mutations in MMR genes. Molecular makers with predictive and prognostic implications include quantitative multigene reverse transcriptase polymerase chain reaction assay and KRAS and BRAF mutation analysis...
June 2018: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/29771800/left-sided-dominance-of-early-onset-colorectal-cancers-a-rationale-for-screening-flexible-sigmoidoscopy-in-the-young
#4
Lior Segev, Matthew F Kalady, James M Church
BACKGROUND: National databases show a recent significant increase in the incidence of colorectal cancer in people younger than 50. With current recommendations to begin average-risk screening at age 50, these patients do not have the opportunity to be screened. We hypothesized that most of the cancers among the young would be left sided, which would create an opportunity for screening the young by flexible sigmoidoscopy. OBJECTIVE: This study aims to analyze the anatomic distribution of sporadic colorectal cancers in patients under the age of 50...
May 15, 2018: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/29771274/identification-of-chronic-obstructive-pulmonary-disease-axes-that-predict-all-cause-mortality-the-copdgene-study
#5
Gregory L Kinney, Stephanie A Santorico, Kendra A Young, Michael H Cho, Peter J Castaldi, Raul San José Estépar, James C Ross, Jennifer G Dy, Barry J Make, Elizabeth A Regan, David A Lynch, Douglas C Everett, Sharon M Lutz, Edwin K Silverman, George R Washko, James D Crapo, John E Hokanson
Chronic Obstructive Pulmonary Disease (COPD) is a syndrome caused by damage to the lungs resulting in decreased pulmonary function and reduced structural integrity. Pulmonary function testing (PFT) is currently used to diagnose and stratify COPD into severity groups and chest computed tomography (CT) imaging is often used to assess structural changes in the lungs. We hypothesized that the combination of PFT and CT phenotypes would provide a more powerful tool for assessing underlying morphologic differences associated with pulmonary function in COPD than PFT alone...
May 16, 2018: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29760937/a-novel-mlh1-intronic-variant-in-a-young-japanese-patient-with-lynch-syndrome
#6
Yoshimi Kiyozumi, Hiroyuki Matsubayashi, Yasue Horiuchi, Takuma Oishi, Masato Abe, Sumiko Ohnami, Akane Naruoka, Masatoshi Kusuhara, Ken Yamaguchi
Lynch syndrome, an autosomal dominantly inherited disease, is characterized by an increased risk of developing colorectal cancer. We found a novel germline variant of MLH1 (IVS6+2T>C) that caused Lynch syndrome in a young Japanese patient who had multiple colorectal cancers. Accurate diagnosis will be highly beneficial in clinical practice for surveillance and genetic counseling of patients and their relatives.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29760830/patient-and-provider-perspectives-on-adherence-to-and-care-coordination-of-lynch-syndrome-surveillance-recommendations-findings-from-qualitative-interviews
#7
Jennifer L Schneider, Katrina A B Goddard, Kristin R Muessig, James V Davis, Alan F Rope, Jessica E Hunter, Susan K Peterson, Louise S Acheson, Sapna Syngal, Georgia L Wiesner, Jacob A Reiss
Background: Patients with a genetic variant associated with Lynch syndrome (LS) are recommended to undergo frequent and repeated cancer surveillance activities to minimize cancer-related morbidity and mortality. Little is known about how patients and primary care providers (PCPs) track and manage these recommendations. We conducted a small exploratory study of patient and PCP experiences with recommended LS surveillance activities and communication with family members in an integrated health care system...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29758216/molecular-background-of-colorectal-tumors-from-patients-with-lynch-syndrome-associated-with-germline-variants-in-pms2
#8
S W Ten Broeke, T C van Bavel, A M L Jansen, E Gómez-García, F J Hes, L P van Hest, T G W Letteboer, M J W Olderode-Berends, D Ruano, L Spruijt, M Suerink, C M Tops, R van Eijk, H Morreau, T van Wezel, M Nielsen
BACKGROUND & AIMS: Germline variants in the mismatch repair genes MLH1, MSH2 (EPCAM), MSH6, or PMS2 cause Lynch syndrome. Patients with these variants have an increased risk of developing colorectal cancers (CRCs) that differ from sporadic CRCs in genetic and histologic features. It has been a challenge to study CRCs associated with PMS2 variants (PMS2-associated CRCs) because these develop less frequently and in patients of older ages than colorectal tumors with variants in the other mismatch repair genes...
May 11, 2018: Gastroenterology
https://www.readbyqxmd.com/read/29755653/tumornext-lynch-mmr-a-comprehensive-next-generation-sequencing-assay-for-the-detection-of-germline-and-somatic-mutations-in-genes-associated-with-mismatch-repair-deficiency-and-lynch-syndrome
#9
Phillip N Gray, Pei Tsai, Daniel Chen, Sitao Wu, Jayne Hoo, Wenbo Mu, Bing Li, Huy Vuong, Hsiao-Mei Lu, Navanjot Batth, Sara Willett, Lisa Uyeda, Swati Shah, Chia-Ling Gau, Monalyn Umali, Carin Espenschied, Mike Janicek, Sandra Brown, David Margileth, Lavinia Dobrea, Lawrence Wagman, Huma Rana, Michael J Hall, Theodora Ross, Jonathan Terdiman, Carey Cullinane, Savita Ries, Ellen Totten, Aaron M Elliott
The current algorithm for Lynch syndrome diagnosis is highly complex with multiple steps which can result in an extended time to diagnosis while depleting precious tumor specimens. Here we describe the analytical validation of a custom probe-based NGS tumor panel, TumorNext-Lynch-MMR, which generates a comprehensive genetic profile of both germline and somatic mutations that can accelerate and streamline the time to diagnosis and preserve specimen. TumorNext-Lynch-MMR can detect single nucleotide variants, small insertions and deletions in 39 genes that are frequently mutated in Lynch syndrome and colorectal cancer...
April 17, 2018: Oncotarget
https://www.readbyqxmd.com/read/29753923/prevalence-of-valproate-syndrome-in-europe-from-2005-to-2014-a-registry-based-multi-centre-study
#10
Joan K Morris, Ester Garne, Maria Loane, Marie-Claude Addor, Ingeborg Barisic, Fabrizio Bianchi, Miriam Gatt, Monica Lanzoni, Catherine Lynch, Olatz Mokoroa, Vera Nelen, Amanda Neville, Mary T O'Mahony, Hanitra Randrianaivo-Ranjatoelina, Anke Rissmann, David Tucker, H E K de Walle, Nataliia Zymak-Zakutnia, Judith Ankin
Women with epilepsy need to continue to take anticonvulsants during their pregnancies to prevent seizures from occurring. Since the 1980's, it has been known that the use of valproate (an anticonvulsant) in the first trimester of pregnancy is associated with an increased risk of spina bifida. Recent studies have also demonstrated increased risks of other congenital anomalies as well as a risk of cognitive impairment. Doctors in the EU are now advised not to prescribe valproate in pregnant women, in women who can become pregnant or in girls unless other treatments are ineffective or not tolerated...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29750335/universal-screening-of-both-endometrial-and-colon-cancers-increases-the-detection-of-lynch-syndrome
#11
Tomer Adar, Linda H Rodgers, Kristen M Shannon, Makoto Yoshida, Tianle Ma, Anthony Mattia, Gregory Y Lauwers, Anthony J Iafrate, Nicole M Hartford, Esther Oliva, Daniel C Chung
BACKGROUND: Lynch syndrome (LS) is the most common hereditary cause of colorectal cancer (CRC) and endometrial cancer (EC). Screening of all CRCs for LS is currently recommended, but screening of ECs is inconsistent. The objective of this study was to determine the added value of screening both CRC and EC tumors in the same population. METHODS: A prospective, immunohistochemistry (IHC)-based screening program for all patients with newly diagnosed CRCs and ECs was initiated in 2011 and 2013, respectively, at 2 centers (primary and tertiary)...
May 11, 2018: Cancer
https://www.readbyqxmd.com/read/29744603/introduction-lynch-syndrome-its-molecular-mechanism-and-current-topics
#12
REVIEW
Naohiro Tomita
No abstract text is available yet for this article.
May 9, 2018: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29744602/current-clinical-topics-of-lynch-syndrome
#13
REVIEW
Kohji Tanakaya
Lynch syndrome (LS) is one of the most common genetic cancer syndromes, occurring at a rate of 1 per 250-1000 in the general population. This autosomal dominant disease is caused by a germline variant in one of the four mismatch repair genes, MSH2, MLH1, MSH6, PMS2, or the EPCAM gene. LS develops at early ages in colorectal cancer (CRC), endometrial cancer, and various other associated tumors. Accurate diagnosis of LS and utilization of various risk-reduction strategies such as surveillance, prophylactic surgery, and chemoprevention could improve clinical outcomes...
May 9, 2018: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29723603/histology-of-colorectal-adenocarcinoma-with-double-somatic-mismatch-repair-mutations-is-indistinguishable-from-those-caused-by-lynch-syndrome
#14
Jessica A Hemminger, Rachel Pearlman, Sigurdis Haraldsdottir, Deborah Knight, Jon Gunnlaugur Jonasson, Colin C Pritchard, Heather Hampel, Wendy L Frankel
Lynch syndrome (LS) is the most common form of hereditary colon cancer (CRC). Germline mutations in the mismatch repair (MMR) genes MLH1, MSH2 (EPCAM), MSH6, and PMS2, followed by a second hit to the remaining allele leads to cancer development. Universal tumor screening for LS is routinely performed on CRC, and screening has identified patients with unexplained MMR deficiency that lack MLH1 methylation and a germline mutation. Tumor sequencing has since identified double somatic (DS) mutations in the MMR gene corresponding with the absent protein in 69% of these patients...
April 30, 2018: Human Pathology
https://www.readbyqxmd.com/read/29720902/translational-research-in-familial-colorectal-cancer-syndromes
#15
REVIEW
Molly M Ford
Growing knowledge of inherited colorectal cancer syndromes has led to better surveillance and better care of this subset of patients. The most well-known entities, including Lynch syndrome and familial adenomatous polyposis, are continually being studied and with the advent of more sophisticated genetic testing, additional genetic discoveries have been made in the field of inherited cancer. This article will summarize many of the updates to both the familiar and perhaps less familiar syndromes that can lead to inherited or early-onset colorectal cancer...
May 2018: Clinics in Colon and Rectal Surgery
https://www.readbyqxmd.com/read/29718441/prevalence-and-molecular-characteristics-of-dna-mismatch-repair-protein-deficient-sebaceous-neoplasms-and-keratoacanthomas-in-a-japanese-hospital-based-population
#16
Kouki Kuwabara, Okihide Suzuki, Noriyasu Chika, Kensuke Kumamoto, Toshiharu Minabe, Tomoo Fukuda, Eiichi Arai, Jun-Ichi Tamaru, Kiwamu Akagi, Hidetaka Eguchi, Yasushi Okazaki, Hideyuki Ishida
Background: Muir-Torre syndrome (MTS) is currently considered as a clinical variant of Lynch syndrome (LS). The clinical significance of the screening of patients with MTS-associated cutaneous tumors for the identification of LS has not yet been established. In addition, the prevalence and molecular characteristics of mismatch repair (MMR) protein deficiency in such tumors has scarcely been investigated in the Japanese population. Methods: Immunohistochemistry (IHC) for MMR proteins (MLH1, MSH2, MSH6 and PMS2) was performed in formalin-fixed paraffin-embedded sections prepared from 16 sebaceous neoplasms (SNs) resected from 13 patients and 32 keratoacanthomas (KAs) resected from 31 patients at our institution between January 2005 and March 2014...
April 28, 2018: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29717530/the-utility-of-immunohistochemistry-for-mismatch-repair-proteins-on-colorectal-polyps-in-the-familial-cancer-clinic
#17
Eryn Dow, Daniel D Buchanan, Ingrid M Winship
BACKGROUND: Immunohistochemistry for loss of expression of one or more of the mismatch repair proteins is performed on colorectal cancer tissue as a screening test for Lynch syndrome; however, its role in premalignant polyps remains controversial. AIM: To determine the effectiveness of mismatch repair immunohistochemistry performed on premalignant colorectal polyps in identifying Lynch syndrome, focusing on clinical utility and value. METHODS: A retrospective audit was conducted of mismatch repair immunohistochemistry performed on non-malignant polyps in patients who attended the Family Cancer Clinic at the Royal Melbourne Hospital...
May 1, 2018: Internal Medicine Journal
https://www.readbyqxmd.com/read/29716739/converging-endometrial-and-ovarian-tumorigenesis-in-lynch-syndrome-shared-origin-of-synchronous-carcinomas
#18
Anni Niskakoski, Annukka Pasanen, Noora Porkka, Samuli Eldfors, Heini Lassus, Laura Renkonen-Sinisalo, Sippy Kaur, Jukka-Pekka Mecklin, Ralf Bützow, Päivi Peltomäki
OBJECTIVE: The diagnosis of carcinoma in both the uterus and the ovary simultaneously is not uncommon and raises the question of synchronous primaries vs. metastatic disease. Targeted sequencing of sporadic synchronous endometrial and ovarian carcinomas has shown that such tumors are clonally related and thus represent metastatic disease from one site to the other. Our purpose was to investigate whether or not the same applies to Lynch syndrome (LS), in which synchronous cancers of the gynecological tract are twice as frequent as in sporadic cases, reflecting inherited defects in DNA mismatch repair (MMR)...
April 28, 2018: Gynecologic Oncology
https://www.readbyqxmd.com/read/29710374/peri-tumoural-granulomatous-reaction-in-endometrial-carcinoma-association-with-dna-mismatch-repair-protein-deficiency-particularly-loss-of-pms2-expression
#19
Colin Jr Stewart, Amy Pearn, Nicholas Pachter, Adeline Tan
AIMS: The observation of peri-tumoural granulomatous reactions (PGRs) in two endometrial carcinomas (ECs) with a PMS2-deficient/ MLH1-intact expression pattern led us to investigate whether PGRs in EC were specifically associated with DNA mismatch repair (MMR) protein deficiency, particularly PMS2 loss. METHODS AND RESULTS: Hysterectomy specimens from 22 MMR protein-intact and 54 MMR protein-deficient ECs were reviewed with specific attention to the presence of a PGR and a tumour-associated lymphoid reaction (including tumour-infiltrating lymphocytes (TILs) and stromal lymphoid infiltrates)...
April 30, 2018: Histopathology
https://www.readbyqxmd.com/read/29710287/misclassification-of-upper-tract-urothelial-carcinoma-in-patients-with-lynch-syndrome-reply
#20
N Jewel Samadder, Jathine Wong, Karen Curtin
No abstract text is available yet for this article.
April 19, 2018: JAMA Oncology
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