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Lynch syndrome

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https://www.readbyqxmd.com/read/28732364/a-novel-heterozygous-germline-deletion-in-msh2-gene-in-a-five-generation-chinese-family-with-lynch-syndrome
#1
Bin Wu, Wuyang Ji, Shengran Liang, Chao Ling, Yan You, Lai Xu, Min-Er Zhong, Yi Xiao, Hui-Zhong Qiu, Jun-Yang Lu, Santasree Banerjee
Lynch syndrome (LS) is one of the most common familial forms of colorectal cancer predisposing syndrome with an autosomal dominant mode of inheritance. LS is caused by the germline mutations in DNA mismatch repair (MMR) genes including MSH2, MLH1, MSH6and PMS2. Clinically, LS is characterized by high incidence of early-onset colorectal cancer as well as endometrial, small intestinal and urinary tract cancers, usually occur in the third to fourth decade of the life. Here we describe a five generation Chinese family with LS clinically diagnosed according to the Amsterdam II criteria...
July 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28730763/dna-mismatch-repair-deficiency-in-lung-and-oral-cavity-carcinomas-the-role-of-histogenetic-origin
#2
Konstantina N Spetsotaki, Evangelos Tsiambas, Athanasios Stamatelopoulos, Panagiotis P Fotiades, Ioannis Kastanioudakis, Pericles Tomos, Vasileios Ragos
DNA mismatch repair system (DNA MMR) is a crucial genetic mechanism for DNA homeostasis in prokaryotic and eukaryotic cells. During DNA replication and also recombination, point intra-nucleotide errors including base deletion, insertion, and mis-incorporation happen. These raised abnormalities in the newly synthesized DNA strand could affect negatively the stability of the molecule and the function of the corresponding genes. DNA MMR proteins prevent these errors by recognizing and repairing them, securing directly the normal anatomy of the DNA double strand and indirectly the expression of the genes...
May 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28727142/genomic-and-transcriptomic-heterogeneity-of-colorectal-tumors-arising-in-lynch-syndrome
#3
Hans Binder, Lydia Hopp, Michal R Schweiger, Steve Hoffmann, Frank Jühling, Martin Kerick, Bernd Timmermann, Susann Siebert, Christina Grimm, Lilit Nersisyan, Arsen Arakelyan, Maria Herberg, Peter Buske, Henry Loeffler-Wirth, Maciej Rosolowski, Christoph Engel, Jens Przybilla, Martin Peifer, Nicolaus Friedrichs, Gabriela Moeslein, Margarete Odenthal, Michelle Hussong, Sophia Peters, Stefanie Holzapfel, Jacob Nattermann, Robert Hueneburg, Wolff Schmiegel, Brigitte Royer-Pokora, Stefan Aretz, Michael Kloth, Matthias Kloor, Reinhard Buettner, Jörg Galle, Markus Loeffler
Colorectal cancer (CRC) arising in Lynch Syndrome (LS) comprises tumors with constitutional mutations in DNA mismatch-repair genes. Whole-genome and transcriptome studies of LS-CRC are still missing to address questions about similarities and differences of mutation and gene expression characteristics between LS-CRC and sporadic CRC, about the molecular heterogeneity of LS-CRC and about specific mechanisms of LS-CRC genesis linked to dysfunctional mismatch-repair in LS colonic mucosa and the possible role of immune editing...
July 20, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28723562/integrative-genomics-identifies-the-molecular-basis-of-resistance-to-azacitidine-therapy-in-myelodysplastic-syndromes
#4
Ashwin Unnikrishnan, Elli Papaemmanuil, Dominik Beck, Nandan P Deshpande, Arjun Verma, Ashu Kumari, Petter S Woll, Laura A Richards, Kathy Knezevic, Vashe Chandrakanthan, Julie A I Thoms, Melinda L Tursky, Yizhou Huang, Zara Ali, Jake Olivier, Sally Galbraith, Austin G Kulasekararaj, Magnus Tobiasson, Mohsen Karimi, Andrea Pellagatti, Susan R Wilson, Robert Lindeman, Boris Young, Raj Ramakrishna, Christopher Arthur, Richard Stark, Philip Crispin, Jennifer Curnow, Pauline Warburton, Fernando Roncolato, Jacqueline Boultwood, Kevin Lynch, Sten Eirik W Jacobsen, Ghulam J Mufti, Eva Hellstrom-Lindberg, Marc R Wilkins, Karen L MacKenzie, Jason W H Wong, Peter J Campbell, John E Pimanda
Myelodysplastic syndromes and chronic myelomonocytic leukemia are blood disorders characterized by ineffective hematopoiesis and progressive marrow failure that can transform into acute leukemia. The DNA methyltransferase inhibitor 5-azacytidine (AZA) is the most effective pharmacological option, but only ∼50% of patients respond. A response only manifests after many months of treatment and is transient. The reasons underlying AZA resistance are unknown, and few alternatives exist for non-responders. Here, we show that AZA responders have more hematopoietic progenitor cells (HPCs) in the cell cycle...
July 18, 2017: Cell Reports
https://www.readbyqxmd.com/read/28719413/evaluation-of-a-new-genetic-family-history-screening-questionnaire-for-identifying-lynch-syndrome
#5
Dawn S Harrison, Marilyn Handley
Family history is essential when screening for hereditary cancer syndromes. This article explores if a detailed genetic family history questionnaire is more effective in identifying at-risk individuals for Lynch syndrome than a basic family health questionnaire.
August 17, 2017: Nurse Practitioner
https://www.readbyqxmd.com/read/28714190/polymorphisms-of-xenobiotic-metabolizing-genes-and-colorectal-cancer-risk-in-patients-with-lynch-syndrome-a-retrospective-cohort-study-in-taiwan
#6
Abram Bunya Kamiza, Jeng-Fu You, Wen-Chang Wang, Reiping Tang, Chun-Yu Chang, Huei-Tzu Chien, Chih-Hsiung Lai, Li-Ling Chiu, Tsai-Ping Lo, Kuan-Yi Hung, Chao A Hsiung, Chih-Ching Yeh
Cytochrome P450 (CYP), glutathione-S-transferase (GST), and N-acetyltransferase (NAT) are crucial for metabolism and clearance of xenobiotics. This study investigated whether CYP, GST, and NAT single nucleotide polymorphisms (SNPs) are associated with colorectal cancer (CRC) in patients with Lynch syndrome. The interaction between these SNPs and cigarette smoking or meat consumption was also explored. We identified 270 patients with Lynch syndrome from the Taiwan Hereditary Nonpolyposis Colorectal Cancer Consortium...
July 17, 2017: Environmental and Molecular Mutagenesis
https://www.readbyqxmd.com/read/28702897/hereditary-diffuse-gastric-cancer-and-lynch-syndromes-in-a-brca1-2-negative-breast-cancer-patient
#7
Scolastica W Njoroge, Kelly R Burgess, Melody A Cobleigh, Hussein H Alnajar, Paolo Gattuso, Lydia Usha
INTRODUCTION: Genetic counseling and testing is recommended for women with a personal and/or family history of breast and other cancers (ovarian, pancreatic, male breast and others). Mutations in the BRCA1 and BRCA2 genes (BRCA1/2) are the most common causes of hereditary breast and ovarian cancer. Additional genetic counseling and testing with a multi-gene panel may be considered in breast cancer patients who tested negative for mutations in these two genes. In about 11% of BRCA1/2-negative patients, further genetic testing reveals pathogenic mutations in other high or moderate cancer risk genes...
July 12, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28701629/atypical-pituitary-adenoma-with-men1-somatic-mutation-associated-with-abnormalities-of-dna-mismatch-repair-genes-mlh1-germline-mutation-and-msh6-somatic-mutation
#8
Shinsuke Uraki, Hiroyuki Ariyasu, Asako Doi, Hiroto Furuta, Masahiro Nishi, Kokichi Sugano, Naoko Inoshita, Naoyuki Nakao, Shozo Yamada, Takashi Akamizu
The mechanism of pituitary tumorigenesis remains largely unknown. Lynch syndrome is an autosomal, dominantly inherited syndrome caused by a defective mismatch repair (MMR) mechanism involved in the development of various tumors at an early age. In this case study, we showed the occurrence of pituitary tumors associated with Lynch syndrome for the first time and performed genetic and immunohistochemical analysis to evaluate the genetic aberrations that might be related to the tumorigenesis and proliferation...
July 13, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28699072/expending-role-of-microsatellite-instability-in-diagnosis-and-treatment-of-colorectal-cancers
#9
REVIEW
Liisa Chang, Minna Chang, Hanna M Chang, Fuju Chang
BACKGROUND: Colorectal carcinomas with high-frequency microsatellite instability (MSI-H) account for 15% of all colorectal cancers, including 12% of sporadic cases and 3% of cancers associated with Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome, HNPCC). Lynch syndrome is an autosomal dominant hereditary cancer syndrome, caused by germline mutations in mismatch repair genes, including MLH1, MSH2, MSH6 and PMS2. METHODS: Published articles from peer-reviewed journals were obtained from PubMed, Google Scholar and Clinicaltrials...
July 11, 2017: Journal of Gastrointestinal Cancer
https://www.readbyqxmd.com/read/28696559/genetic-testing-for-hereditary-nonpolyposis-colorectal-cancer-hnpcc
#10
Babi Ramesh Reddy Nallamilli, Madhuri Hegde
Hereditary nonpolyposis colorectal cancer (HNPCC), also called Lynch syndrome, is an autosomal dominant cancer syndrome that confers an elevated risk of early-onset colorectal cancer (CRC) and increased lifetime risk for other cancers of the endometrium, stomach, small intestine, hepatobiliary system, kidney, ureter, and ovary. Lynch syndrome accounts for up to 3% of all CRC, making it the most common hereditary colorectal cancer syndrome. Germline mutations in methyl-directed mismatch repair (MMR) genes give rise to microsatellite instability (MSI) in tumor DNA...
July 11, 2017: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/28693799/the-current-value-of-determining-the-mismatch-repair-status-of-colorectal-cancer-a-rationale-for-routine-testing
#11
REVIEW
E Ryan, K Sheahan, B Creavin, H M Mohan, D C Winter
Colorectal Cancer (CRC) is the third most prevalent cancer in men and women. Up to 15% of CRCs display microsatellite instability (MSI). MSI is reflective of a deficient mismatch repair (MMR) system and is most commonly caused by hypermethylation of the MLH1 promoter. However, it may also be due to autosomal dominant constitutional mutations in DNA MMR, termed Lynch Syndrome. MSI may be diagnosed via polymerase chain reaction (PCR) or alternatively, immunohistochemistry (IHC) can identify MMR deficiency (dMMR)...
August 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28691043/incidence-of-small-bowel-neoplasia-in-lynch-syndrome-assessed-by-video-capsule-endoscopy
#12
Jasmijn F Haanstra, Abdul Al-Toma, Evelien Dekker, Steven A L W Vanhoutvin, Fokko M Nagengast, Elisabeth M Mathus-Vliegen, Monique E van Leerdam, Wouter H de Vos Tot Nederveen Cappel, Roeland A Veenendaal, Annemieke Cats, Silvia Sanduleanu, Hans F A Vasen, Jan H Kleibeuker, Jan J Koornstra
BACKGROUND AND STUDY AIMS : Lynch syndrome (LS) patients have an increased risk of small bowel cancer. The question is whether surveillance will lead to early detection of (pre)malignant lesions. We recently reported on prevalence of small bowel neoplasia (SBN) in LS patients as assessed by video capsule endoscopy (VCE). The aim of this prospective study was to determine the incidence of SBN. PATIENTS AND METHODS : Asymptomatic LS patients who underwent a VCE were invited to undergo a second VCE procedure 2 years later...
July 2017: Endoscopy International Open
https://www.readbyqxmd.com/read/28686762/ehlers-danlos-syndrome-in-a-patient-with-lynch-syndrome-a-hand-on-the-door-diagnosis
#13
Candrice R Heath, Sheryl Miller
No abstract text is available yet for this article.
June 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28685475/a-new-hereditary-colorectal-cancer-network-in-the-middle-east-and-eastern-mediterranean-countries-to-improve-care-for-high-risk-families
#14
Zeinab Ghorbanoghli, Carol Jabari, Walid Sweidan, Wail Hammoudeh, George Cortas, Ala I Sharara, Amal Abedrabbo, Ijad Hourani, Bahareh Mahjoubi, Keivan Maijdzadeh, Nurdan Tözün, Hadia Ziada-Bouchaar, Waseem Hamoudi, Osama Diab, Hamid Reza Khorram Khorshid, Henry Lynch, Hans Vasen
Colorectal cancer (CRC) has a very high incidence in the western world. Data from registries in the Middle East showed that the incidence of CRC is relatively low in these countries. However, these data also showed that CRC incidence has increased substantially over the past three decades and that a high proportion of cases are diagnosed at an early age (<50 years). In view of these findings, more attention should be paid to prevention. Because of the often limited financial resources, focused screening of individuals with hereditary CRC, in particular those with Lynch syndrome, appears to be the most cost-effective strategy...
July 6, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28682964/subtotal-colectomy-for-colon-cancer-reduces-the-need-for-subsequent-surgery-in-lynch-syndrome
#15
Laura Renkonen-Sinisalo, Toni T Seppälä, Heikki J Järvinen, Jukka-Pekka Mecklin
BACKGROUND: The risk of metachronous colorectal cancer is high after surgical resection for first colon cancer in Lynch syndrome. OBJECTIVE: This study aimed to examine whether extended surgery decreases the risk of subsequent colorectal cancer and improves long-term survival. DESIGN: This was a retrospective study. SETTING: Data were collected from a nationwide registry. PATIENTS: Two hundred forty-two Lynch syndrome pathogenic variant carriers who underwent surgery for a first colon cancer from 1984 to 2009 were included...
August 2017: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/28678173/molecular-and-clinicopathological-differences-by-age-at-the-diagnosis-of-colorectal-cancer
#16
Chu-Cheng Chang, Pei-Ching Lin, Chun-Chi Lin, Yuan-Tzu Lan, Hung-Hsin Lin, Chien-Hsing Lin, Shung-Haur Yang, Wen-Yi Liang, Wei-Shone Chen, Jeng-Kai Jiang, Jen-Kou Lin, Shih-Ching Chang
We compared the clinicopathological and molecular profiles between different age groups of sporadic colorectal cancer (CRC) patients (age <50, 56-60, 60-70, 70-80, and >80); 1475 CRC patients were enrolled after excluding 30 individuals with Lynch syndrome. The mutation spectra for APC, TP53, KRAS, PIK3CA, FBXW7, BRAF, NRAS, HRAS, TGFbR, Akt1, and PTEN were analyzed using polymerase chain reaction (PCR), followed by MassArray and microsatellite (MSI-high) analysis by performing genotyping. Male patients (74...
July 5, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28676214/dna-mismatch-repair-deficiency-in-surgically-resected-lung-adenocarcinoma-microsatellite-instability-analysis-using-the-promega-panel
#17
Kazuya Takamochi, Fumiyuki Takahashi, Yoshiyuki Suehara, Eiichi Sato, Shinji Kohsaka, Takuo Hayashi, Shigehisa Kitano, Toshihide Uneno, Shinya Kojima, Kengo Takeuchi, Hiroyuki Mano, Kenji Suzuki
OBJECTIVES: DNA mismatch repair (MMR) deficiency has recently received increasing attention as a significant biomarker to predict the treatment effect of immune checkpoint inhibitors for various malignant neoplasms. To evaluate MMR status, we analyzed the microsatellite instability (MSI) of lung adenocarcinomas. MATERIALS AND METHODS: Frozen tissues of lung adenocarcinoma and corresponding normal lung were obtained from 341 patients, including 141 with tumors harboring driver gene alterations (50 EGFR gene mutations, 50 KRAS gene mutations, 21 ALK fusions, 10 ROS1 fusions, and 10 RET fusions) and 200 with pan-negative tumors (100 never- or light-smokers and 100 heavy-smokers), who were surgically treated between 2007 and 2015...
August 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/28674119/cancer-screening-recommendations-and-clinical-management-of-inherited-gastrointestinal-cancer-syndromes-in-childhood
#18
REVIEW
Maria Isabel Achatz, Christopher C Porter, Laurence Brugières, Harriet Druker, Thierry Frebourg, William D Foulkes, Christian P Kratz, Roland P Kuiper, Jordan R Hansford, Hector Salvador Hernandez, Katherine L Nathanson, Wendy K Kohlmann, Leslie Doros, Kenan Onel, Kami Wolfe Schneider, Sarah R Scollon, Uri Tabori, Gail E Tomlinson, D Gareth R Evans, Sharon E Plon
Hereditary gastrointestinal cancer predisposition syndromes have been well characterized, but management strategies and surveillance remain a major challenge, especially in childhood. In October 2016, the American Association for Cancer Research organized the AACR Childhood Cancer Predisposition Workshop in which international experts in care of children with a hereditary risk of cancer met to define surveillance strategies and management of children with cancer predisposition syndromes. In this article, we review the current literature in polyposis syndromes that can be diagnosed in childhood and may be associated with an increased incidence of gastrointestinal neoplasms and other cancer types...
July 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28669579/lessons-learnt-from-implementation-of-a-lynch-syndrome-screening-program-for-patients-with-gynaecological-malignancy
#19
Fedaa Najdawi, Ashley Crook, Jayne Maidens, Christopher McEvoy, Andrew Fellowes, Justine Pickett, Musei Ho, David Nevell, Kirsten McIlroy, Amy Sheen, Loretta Sioson, Mahsa Ahadi, John Turchini, Adele Clarkson, Russell Hogg, Sue Valmadre, Greg Gard, Susan J Dooley, Rodney J Scott, Stephen B Fox, Michael Field, Anthony J Gill
Despite a trend towards universal testing, best practice to screen patients presenting with gynaecological malignancy for Lynch syndrome (LS) is uncertain. We report our institutional experience of a co-ordinated gynaecological LS screening program. All patients with endometrial carcinoma or carcinosarcoma, or gynaecological endometrioid or clear cell carcinomas undergo reflex four panel immunohistochemistry (IHC) for MLH1, PMS2, MSH2 and MSH6 followed by cascade somatic hypermethylation analysis of the MLH1 promoter locus for dual MLH1/PMS2 negative tumours...
August 2017: Pathology
https://www.readbyqxmd.com/read/28668538/community-practice-implementation-of-a-self-administered-version-of-premm1-2-6-to-assess-risk-for-lynch-syndrome
#20
Daniel G Luba, James A DiSario, Colleen Rock, Devki Saraiya, Kelsey Moyes, Krystal Brown, Kristen Rushton, Maydeen M Ogara, Mona Raphael, Dayna Zimmerman, Kimmie Garrido, Evelyn Silguero, Jonathan Nelson, Matthew B Yurgelun, Fay Kastrinos, Richard J Wenstrup, Sapna Syngal
BACKGROUND & AIMS: Lynch syndrome is a genetic disorder that greatly increases risk for colorectal and other cancers, though it is underdiagnosed. PREMM1,2,6 is a web-based tool that analyzes individuals' personal/family histories of cancer to quantify their likelihood of carrying a germline mutation associated with Lynch syndrome. We investigated the feasibility of systematic risk assessment for Lynch syndrome in a community gastroenterology practice using a patient-completed version of PREMM1,2,6...
June 28, 2017: Clinical Gastroenterology and Hepatology
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