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Lynch syndrome

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https://www.readbyqxmd.com/read/29147930/snp-association-study-in-pms2-associated-lynch-syndrome
#1
Sanne W Ten Broeke, Fadwa A Elsayed, Lisa Pagan, Maran J W Olderode-Berends, Encarna Gomez Garcia, Hans J P Gille, Liselot P van Hest, Tom G W Letteboer, Lizet E van der Kolk, Arjen R Mensenkamp, Theo A van Os, Liesbeth Spruijt, Bert J W Redeker, Manon Suerink, Yvonne J Vos, Anja Wagner, Juul T Wijnen, E W Steyerberg, Carli M J Tops, Tom van Wezel, Maartje Nielsen
Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS). Previous studies focused mostly on MLH1, MSH2 and MSH6 carriers, with conflicting results. We aimed to determine the role of GWAS SNPs in PMS2 mutation carriers. A cohort study was performed in 507 PMS2 carriers (124 CRC cases), genotyped for 24 GWAS SNPs, including SNPs at 11q23.1 and 8q23.3...
November 17, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29146522/germline-genetic-features-of-young-individuals-with-colorectal-cancer
#2
Elena M Stoffel, Erika Koeppe, Jessica Everett, Peter Ulintz, Mark Kiel, Jenae Osborne, Linford Williams, Kristen Hanson, Stephen B Gruber, Laura S Rozek
BACKGROUND & AIMS: The incidence of colorectal cancer (CRC) in individuals younger than 50 years old is increasing. We sought to ascertain the proportion of young CRC cases associated with genetic predisposition. METHODS: We performed a retrospective study of individuals diagnosed with CRC at an age younger than 50 years, evaluated by the clinical genetics service at a single tertiary care cancer center from 1998 through 2015. We collected data on patient histories, tumor phenotypes, and results of germline DNA sequencing...
November 12, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29133950/treating-a-novel-plasticity-defect-rescues-episodic-memory-in-fragile-x-model-mice
#3
W Wang, B M Cox, Y Jia, A A Le, C D Cox, K M Jung, B Hou, D Piomelli, C M Gall, Gary Lynch
Episodic memory, a fundamental component of human cognition, is significantly impaired in autism. We believe we report the first evidence for this problem in the Fmr1-knockout (KO) mouse model of Fragile X syndrome and describe potentially treatable underlying causes. The hippocampus is critical for the formation and use of episodes, with semantic (cue identity) information relayed to the structure via the lateral perforant path (LPP). The unusual form of synaptic plasticity expressed by the LPP (lppLTP) was profoundly impaired in Fmr1-KOs relative to wild-type mice...
November 14, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29132872/an-nrg-oncology-gog-study-of-molecular-classification-for-risk-prediction-in-endometrioid-endometrial-cancer
#4
Casey M Cosgrove, David L Tritchler, David E Cohn, David G Mutch, Craig M Rush, Heather A Lankes, William T Creasman, David S Miller, Nilsa C Ramirez, Melissa A Geller, Matthew A Powell, Floor J Backes, Lisa M Landrum, Cynthia Timmers, Adrian A Suarez, Richard J Zaino, Michael L Pearl, Paul A DiSilvestro, Shashikant B Lele, Paul J Goodfellow
OBJECTIVES: The purpose of this study was to assess the prognostic significance of a simplified, clinically accessible classification system for endometrioid endometrial cancers combining Lynch syndrome screening and molecular risk stratification. METHODS: Tumors from NRG/GOG GOG210 were evaluated for mismatch repair defects (MSI, MMR IHC, and MLH1 methylation), POLE mutations, and loss of heterozygosity. TP53 was evaluated in a subset of cases. Tumors were assigned to four molecular classes...
November 10, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/29130549/concomitant-idh-wildtype-glioblastoma-and-idh1-mutant-anaplastic-astrocytoma-in-a-patient-with-constitutional-mismatch-repair-deficiency-syndrome
#5
Francesca Galuppini, Enrico Opocher, Uri Tabori, Isabella Mammi, Melissa Edwards, Britany Campbell, Jacalyn Kelly, Alessandra Viel, Michele Quaia, Francesca Rivieri, Domenico D'Avella, Antonella Arcella, Felice Giangaspero, Matteo Fassan, Marina Paola Gardiman
Constitutional mismatch repair deficiency (CMMRD) is a rare and often under-recognized tumour predisposition syndrome, presenting with both extracranial and malignant brain tumours that occur in children and/or young adults [1]. The genetic defects underlying this disease are biallelic germline mutations in one of the DNA mismatch repair (MMR) genes leading to a constitutional DNA repair defect that causes a cancer predisposition syndrome with early onset [2]. This mechanism is different from Lynch syndrome (LS) where a heterozygous germline loss-of-function mutation is observed and the patients are more prone to develop colon and genitourinary cancers as adults [1]...
November 12, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29128931/universal-determination-of-microsatellite-instability-using-bat26-as-a-single-marker-in-an-argentine-colorectal-cancer-cohort
#6
María Laura González, Natalia Causada-Calo, Juan Pablo Santino, Mev Dominguez-Valentin, Fabiana Alejandra Ferro, Inés Sammartino, Pablo Germán Kalfayan, Maria Alicia Verzura, Tamara Alejandra Piñero, Andrea Romina Cajal, Walter Pavicic, Carlos Vaccaro
Microsatellite instability (MSI) is a hallmark tool for Lynch syndrome (LS) screening and a prognostic marker for sporadic colorectal cancer (CRC). In regions with limited resources and scarce CRC molecular characterization as South America, the implementation of universal MSI screening is under debate for both its purposes. We sought to estimate the frequency of BAT26 in colorectal adenocarcinomas and to determine associated clinical and histological features. Consecutive patients from a CRC registry were included...
November 11, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29124495/excluding-lynch-syndrome-in-a-female-patient-with-metachronous-dna-mismatch-repair-deficient-colon-and-ovarian-cancer
#7
Stijn Crobach, Anne M L Jansen, Marjolein J L Ligtenberg, Marije Koopmans, Maartje Nielsen, Frederik J Hes, Juul T Wijnen, Winand N M Dinjens, Tom van Wezel, Hans Morreau
Patients synchronously or metachronously presenting with ovarian and colon cancer can pose diagnostic challenges. A primary colon carcinoma can metastasize to one or both ovaries, two independent primary tumors can arise or an ovarian carcinoma can metastasize to the colon. Clinical and immunohistochemical characterization can aid the diagnosis. Recently, we reported that in difficult cases finding pathogenic APC variants supports a colonic origin.In this case report we describe the clinical history of a female patient suspected for Lynch syndrome...
November 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29121143/mismatch-repair-deficiency-testing-in-patients-with-colorectal-cancer-and-nonadherence-to-testing-guidelines-in-young-adults
#8
Talha Shaikh, Elizabeth A Handorf, Joshua E Meyer, Michael J Hall, Nestor F Esnaola
Importance: Mismatch repair (MMR) deficiency of DNA has been observed in up to 15% of sporadic colorectal cancers (CRCs) and is a characteristic feature of Lynch syndrome, which has a higher incidence in young adults (age, <50 years) with CRC. Mismatch repair deficiency can be due to germline mutations or epigenetic inactivation, affects prognosis and response to systemic therapy, and results in unrepaired repetitive DNA sequences, which increases the risk of multiple malignant tumors...
November 9, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/29120461/risk-of-colorectal-cancer-for-carriers-of-a-germ-line-mutation-in-pole-or-pold1
#9
Daniel D Buchanan, Jenna R Stewart, Mark Clendenning, Christophe Rosty, Khalid Mahmood, Bernard J Pope, Mark A Jenkins, John L Hopper, Melissa C Southey, Finlay A Macrae, Ingrid M Winship, Aung Ko Win
BackgroundGerm-line mutations in the exonuclease domains of the POLE and POLD1 genes are associated with an increased, but yet unquantified, risk of colorectal cancer (CRC).MethodsWe identified families with POLE or POLD1 variants by searching PubMed for relevant studies prior to October 2016 and by genotyping 669 population-based CRC cases diagnosed in patients under 60 years of age, from the Australasian Colorectal Cancer Family Registry. We estimated the age-specific cumulative risks (penetrance) using a modified segregation analysis...
November 9, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29107668/universal-screening-for-lynch-syndrome-in-endometrial-cancers-frequency-of-germline-mutations-and-identification-of-patients-with-lynch-like-syndrome
#10
Jessica L Dillon, Jorge L Gonzalez, Leslie DeMars, Katarzyna J Bloch, Laura J Tafe
Lynch syndrome (LS) is an inherited clinical syndrome characterized by a high risk of colorectal, endometrial (lifetime risk of up to 60%), ovarian and urinary tract cancers. The diagnosis is confirmed by identification of germline mutations in the DNA mismatch repair (MMR) genes MLH1, PMS2, MSH2, MSH6, or EPCAM. In 2015, our institution implemented universal screening of endometrial cancer hysterectomy specimens by MMR immunohistochemistry (IHC) with reflex MLH1 promoter hypermethylation analysis for tumors with loss of MLH1/PMS2 expression...
October 28, 2017: Human Pathology
https://www.readbyqxmd.com/read/29103543/immunohistochemical-pitfalls-common-mistakes-in-the-evaluation-of-lynch-syndrome
#11
REVIEW
Michael Markow, Wei Chen, Wendy L Frankel
At least 15% of colorectal cancers diagnosed in the United States are deficient in mismatch repair mechanisms. Most of these are sporadic, but approximately 3% of colorectal cancers result from germline alterations in mismatch repair genes and represent Lynch syndrome. It is critical to identify patients with Lynch syndrome to institute appropriate screening and surveillance for patients and their families. Exclusion of Lynch syndrome in sporadic cases is equally important because it reduces anxiety for patients and prevents excessive spending on unnecessary surveillance...
December 2017: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/29103540/emerging-concepts-in-gastric-neoplasia-heritable-gastric-cancers-and-polyposis-disorders
#12
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/29101607/development-of-a-high-risk-pancreatic-screening-clinic-using-3-0%C3%A2-t-mri
#13
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/29096939/familial-colorectal-cancer-type-x-fcctx-and-the-correlation-with-various-genes-a-systematic-review
#14
REVIEW
Mahdieh Nejadtaghi, Hamideh Jafari, Effat Farrokhi, Keihan Ghatreh Samani
Familial Colorectal Cancer Type X (FCCTX) is a type of hereditary nonpolyposis colorectal cancer in accordance to Amsterdam criteria-1 for Lynch syndrome, with no related mutation in mismatch repair gene. FCCTX is microsatellite stable and is accounted for 40% of families with Amsterdam criteria-1 with a high age of onset. Thus, the carcinogenesis of FCCTX is different compared to Lynch syndrome. In addition to the microsatellite stability and the presence of less predominant tumors in proximal colon, various clinical features have also been associated with FCCTX in comparison with Lynch syndrome such as no increased risk of extra-colonic cancers, older age of diagnosis and higher adenoma/carcinoma rate...
October 18, 2017: Current Problems in Cancer
https://www.readbyqxmd.com/read/29071502/phenotypic-and-genotypic-heterogeneity-of-lynch-syndrome-a-complex-diagnostic-challenge
#15
REVIEW
Henry T Lynch, Stephen Lanspa, Trudy Shaw, Murray Joseph Casey, Marc Rendell, Mark Stacey, Theresa Townley, Carrie Snyder, Megan Hitchins, Joan Bailey-Wilson
Lynch syndrome is the hereditary disorder that most frequently predisposes to colorectal cancer as well as predisposing to a number of extracolonic cancers, most prominently endometrial cancer. It is caused by germline mutations in the mismatch repair genes. Both its phenotype and genotype show marked heterogeneity. This review gives a historical overview of the syndrome, its heterogeneity, its genomic landscape, and its implications for complex diagnosis, genetic counseling and putative implications for immunotherapy...
October 25, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29065108/towards-gene-and-gender-based-risk-estimates-in-lynch-syndrome-age-specific-incidences-for-13-extra-colorectal-cancer-types
#16
Christina Therkildsen, Steen Ladelund, Lars Smith-Hansen, Lars Joachim Lindberg, Mef Nilbert
BACKGROUND: In Lynch syndrome, inherited mismatch repair (MMR) defects predispose to colorectal cancer and to a wide spectrum of extra-colorectal tumours. Utilising a cohort study design, we aimed to determine the risk of extra-colorectal cancer and to identify yet unrecognised tumour types. METHODS: Data from 1624 Lynch syndrome mutation carriers in the Danish hereditary non-polyposis colorectal cancer register were used to estimate the sex- and age-specific incidence rate ratios (IRRs) for 30 extra-colorectal malignancies with comparison to the general population...
October 24, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/29061399/-lynch-syndrome-and-endometrial-cancer
#17
REVIEW
Anne-Sophie Bats, Léa Rossi, Marie-Aude Le Frere-Belda, Céline Narjoz, Caroline Cournou, Marie Gosset, Charlotte Ngo, Myriam Delomenie, Claude Nos, Hélène Blons, Pierre Laurent-Puig, Fabrice Lecuru
Lynch syndrome is a hereditary predisposition to many tumors, in the forefront of which endometrial cancer in women. It is related to the mutation of a mismatch repair gene, involved in DNA mismatch repair. This mutation leads to a loss of expression of the corresponding protein, and to genome instability in tumor cells. Cumulative risk at the age of 70 years is over 40 %. Endometrial cancers related to Lynch syndrome are most of the time sentinel (They reveal the predisposition in half of families.) and are characterized by young age at onset (before 60 years) and low body mass index compared with patients presenting sporadic tumors...
October 21, 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/29055842/clinical-and-molecular-characterisation-of-hereditary-and-sporadic-metastatic-colorectal-cancers-harbouring-microsatellite-instability-dna-mismatch-repair-deficiency
#18
R Cohen, O Buhard, P Cervera, E Hain, S Dumont, A Bardier, J-B Bachet, J-M Gornet, D Lopez-Trabada, S Dumont, R Kaci, P Bertheau, F Renaud, F Bibeau, Y Parc, D Vernerey, A Duval, M Svrcek, Thierry André
BACKGROUND: Patients treated with chemotherapy for microsatellite unstable (MSI) and/or mismatch repair deficient (dMMR) cancer metastatic colorectal cancer (mCRC) exhibit poor prognosis. We aimed to evaluate the relevance of distinguishing sporadic from Lynch syndrome (LS)-like mCRCs. PATIENTS AND METHODS: MSI/dMMR mCRC patients were retrospectively identified in six French hospitals. Tumour samples were screened for MSI, dMMR, RAS/RAF mutations and MLH1 methylation...
October 19, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/29046738/colorectal-cancer-incidence-in-path_mlh1-carriers-subjected-to-different-follow-up-protocols-a-prospective-lynch-syndrome-database-report
#19
Toni Seppälä, Kirsi Pylvänäinen, Dafydd Gareth Evans, Heikki Järvinen, Laura Renkonen-Sinisalo, Inge Bernstein, Elke Holinski-Feder, Paola Sala, Annika Lindblom, Finlay Macrae, Ignacio Blanco, Rolf Sijmons, Jacqueline Jeffries, Hans Vasen, John Burn, Sigve Nakken, Eivind Hovig, Einar Andreas Rødland, Kukatharmini Tharmaratnam, Wouter H de Vos Tot Nederveen Cappel, James Hill, Juul Wijnen, Mark Jenkins, Maurizio Genuardi, Kate Green, Fiona Lalloo, Lone Sunde, Miriam Mints, Lucio Bertario, Marta Pineda, Matilde Navarro, Monika Morak, Ian M Frayling, John-Paul Plazzer, Julian R Sampson, Gabriel Capella, Gabriela Möslein, Jukka-Pekka Mecklin, Pål Møller
BACKGROUND: We have previously reported a high incidence of colorectal cancer (CRC) in carriers of pathogenic MLH1 variants (path_MLH1) despite follow-up with colonoscopy including polypectomy. METHODS: The cohort included Finnish carriers enrolled in 3-yearly colonoscopy (n = 505; 4625 observation years) and carriers from other countries enrolled in colonoscopy 2-yearly or more frequently (n = 439; 3299 observation years). We examined whether the longer interval between colonoscopies in Finland could explain the high incidence of CRC and whether disease expression correlated with differences in population CRC incidence...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29045507/reply-to-the-letter-to-the-editor-including-lynch-syndrome-in-personalized-prognostication-and-follow-up-of-stage-ii-and-iii-colon-cancer-by-sciallero-et-al
#20
R Dienstmann, J Guinney
No abstract text is available yet for this article.
November 1, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
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