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Lynch Like Syndrome

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https://read.qxmd.com/read/30740824/a-sensitive-and-scalable-microsatellite-instability-assay-to-diagnose-constitutional-mismatch-repair-deficiency-by-sequencing-of-peripheral-blood-leukocytes
#1
Richard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, Harsh Sheth, Christine Hayes, Stefan Aretz, Karin Dahan, William Foulkes, Christian P Kratz, Tim Ripperger, Amedeo A Azizi, Hagit Baris Feldman, Anne-Laure Chong, Ugur Demirsoy, Benoît Florkin, Thomas Imschweiler, Danuta Januszkiewicz-Lewandowska, Stephan Lobitz, Michaela Nathrath, Hans-Jürgen Pander, Vanesa Perez-Alonso, Claudia Perne, Iman Ragab, Thorsten Rosenbaum, Daniel Rueda, Markus G Seidel, Manon Suerink, Julia Taeubner, Stefanie-Yvonne Zimmermann, Johannes Zschocke, Gillian M Borthwick, John Burn, Michael S Jackson, Mauro Santibanez-Koref, Katharina Wimmer
Constitutional mismatch repair deficiency (CMMRD) is caused by germline pathogenic variants in both alleles of a mismatch repair gene. Patients have an exceptionally high risk of numerous paediatric malignancies, and benefit from surveillance and adjusted treatment. The diversity of its manifestation, and ambiguous genotyping results, particularly from PMS2, can complicate diagnosis and preclude timely patient management. Assessment of low-level microsatellite instability (MSI) in non-neoplastic tissues can detect CMMRD, but current techniques are laborious or of limited sensitivity...
February 10, 2019: Human Mutation
https://read.qxmd.com/read/30717682/alterations-in-erbb2-and-brca-and-microsatellite-instability-as-new-personalized-treatment-options-in-small-bowel-carcinoma
#2
Alexander Quaas, Carina Heydt, Dirk Waldschmidt, Hakan Alakus, Thomas Zander, Tobias Goeser, Philipp Kasper, Christiane Bruns, Anna Brunn, Wilfried Roth, Nils Hartmann, Anne Bunck, Matthias Schmidt, Reinhard Buettner, Sabine Merkelbach-Bruse
BACKGROUND: Carcinomas of the small bowel are rare tumors usually with dismal prognosis. Most recently, some potentially treatable molecular alterations were described. We emphasize the growing evidence of individualized treatment options in small bowel carcinoma. METHODS: We performed a DNA- based multi-gene panel using ultra-deep sequencing analysis (including 14 genes with up to 452 amplicons in total; KRAS, NRAS, HRAS, BRAF, DDR2, ERBB2, KEAP1, NFE2L2, PIK3CA, PTEN, RHOA, BRCA1, BRCA2 and TP53) as well as an RNA-based gene fusion panel including ALK, BRAF, FGFR1, FGFR2, FGFR3, MET, NRG1, NTRK1, NTRK2, NTRK3, RET and ROS1 on eleven formalin fixed and paraffin embedded small bowel carcinomas...
February 4, 2019: BMC Gastroenterology
https://read.qxmd.com/read/30693488/lynch-like-syndrome-is-as-frequent-as-lynch-syndrome-in-early-onset-non-familial-non-polyposis-colorectal-cancer
#3
M Antelo, M Golubicki, E Roca, G Mendez, M Carballido, S Iseas, M Cuatrecasas, L Moreira, A Sanchez, S Carballal, A Castells, C R Boland, A Goel, F Balaguer
Early-onset (<50 years-old) non-polyposis non-familial colorectal cancer (EO NP NF CRC) is a common clinical challenge. Although Lynch syndrome (LS) is associated with EO CRC, the frequency of this syndrome in the EO NF cases remains unknown. Besides, mismatch repair deficient (MMRd) CRCs with negative MMR gene testing have recently been described in up to 60% of cases and termed "Lynch-like syndrome" (LLS). Management and counseling decisions of these patients are complicated because of unconfirmed suspicions of hereditary cancer...
January 29, 2019: International Journal of Cancer. Journal International du Cancer
https://read.qxmd.com/read/30612635/cancer-susceptibility-gene-mutations-in-type-i-and-ii-endometrial-cancer
#4
Beverly Long, Jenna Lilyquist, Amy Weaver, Chunling Hu, Rohan Gnanaolivu, Kun Y Lee, Steven N Hart, Eric C Polley, Jamie N Bakkum-Gamez, Fergus J Couch, Sean C Dowdy
OBJECTIVES: To determine the incidence of germline cancer predisposition gene mutations in patients with endometrial cancer (EC) subtypes. METHODS: Germline DNA was extracted from whole blood collected from consenting patients undergoing primary surgery for EC between 5/2005 and 11/2016. DNA samples were evaluated by product sequencing from a targeted multiplex PCR panel including 21 known/suspected cancer predisposition genes. Variants were classified as pathogenic/likely pathogenic based on allele frequency (<0...
January 2019: Gynecologic Oncology
https://read.qxmd.com/read/30604180/multi-gene-panel-testing-confirms-phenotypic-variability-in-mutyh-associated-polyposis
#5
Erin G Sutcliffe, Amanda Bartenbaker Thompson, Amy R Stettner, Megan L Marshall, Maegan E Roberts, Lisa R Susswein, Ying Wang, Rachel T Klein, Kathleen S Hruska, Benjamin D Solomon
Biallelic pathogenic variants (PVs) in MUTYH cause MUTYH-Associated Polyposis (MAP), which displays phenotypic overlap with other hereditary colorectal cancer (CRC) syndromes including Familial Adenomatous Polyposis (FAP) and Lynch syndrome. We report the phenotypic spectrum of MAP in the context of multi-gene hereditary cancer panel testing. Genetic testing results and clinical histories were reviewed for individuals with biallelic MUTYH PVs detected by panel testing at a single commercial molecular diagnostic laboratory...
January 2, 2019: Familial Cancer
https://read.qxmd.com/read/30575961/epidemiological-clinical-and-molecular-characterization-of-lynch-like-syndrome-a-population-based-study
#6
Noora Porkka, Laura Lahtinen, Maarit Ahtiainen, Jan P Böhm, Teijo Kuopio, Samuli Eldfors, Jukka-Pekka Mecklin, Toni T Seppälä, Päivi Peltomäki
No abstract text is available yet for this article.
December 21, 2018: International Journal of Cancer. Journal International du Cancer
https://read.qxmd.com/read/30572730/testing-strategies-to-reduce-morbidity-and-mortality-from-lynch-syndrome
#7
Anne Keränen, Sam Ghazi, Joseph Carlson, Nikos Papadogiannakis, Kristina Lagerstedt-Robinson, Annika Lindblom
OBJECTIVE: Lynch syndrome (LS) has an autosomal dominant inheritance pattern and is associated with increased risk for colorectal cancer (CRC) and other cancers. Various strategies are used to identify patients at risk and offer surveillance and preventive programs, the cost effectiveness of which is much dependent on the prevalence of LS in a population. Universal testing (UT) is proposed as an effective measure, targeting all newly diagnosed CRC patients under a certain age. MATERIALS AND METHODS: LS cases were identified in a cohort of 572 consecutive CRC patients...
December 20, 2018: Scandinavian Journal of Gastroenterology
https://read.qxmd.com/read/30561401/microsatellite-instability-in-colorectal-cancer
#8
Gian Luigi De' Angelis, Lorena Bottarelli, Cinzia Azzoni, Nicola De' Angelis, Gioacchino Leandro, Francesco Di Mario, Federica Gaiani, Francesca Negri
Microsatellites are short tandem repeat DNA sequences of one to tetra base pairs distributed throughout the human genome, both in coding and non-coding regions. Owing to their repeated structure, microsatellites are particularly prone to replication errors that are normally repaired by the Mismatch Repair (MMR) system. MMR is a very highly conserved cellular process, involving many proteins, resulting in the identification, and subsequent repair of mismatched bases, likely to have arisen during DNA replication, genetic recombination or chemical or physical damage...
December 17, 2018: Acta Bio-medica: Atenei Parmensis
https://read.qxmd.com/read/30486812/using-behaviour-change-and-implementation-science-to-address-low-referral-rates-in-oncology
#9
Janet C Long, Deborah Debono, Rachel Williams, Elizabeth Salisbury, Sharron O'Neill, Elizabeth Eykman, Jordan Butler, Robert Rawson, Kim-Chi Phan-Thien, Stephen R Thompson, Jeffrey Braithwaite, Melvin Chin, Natalie Taylor
BACKGROUND: Patients undergoing surgery for bowel cancer now have a routine screening test to assess their genetic predisposition to this and other cancers (Lynch syndrome). A result indicating a high risk should trigger referral to a genetic clinic for diagnostic testing, information, and management. Appropriate management of Lynch syndrome lowers morbidity and mortality from cancer for patients and their family, but referral rates are low. The aim of this project was to increase referral rates for patients at high risk of Lynch syndrome at two Australian hospitals, using the Theoretical Domains Framework (TDF) Implementation approach...
November 28, 2018: BMC Health Services Research
https://read.qxmd.com/read/30485707/risk-and-prognostic-factors-for-endometrial-carcinoma-after-diagnosis-of-breast-or-lynch-associated-cancers-a-population-based-analysis
#10
Sharon E Johnatty, Colin J R Stewart, Deborah Smith, Daniel Buchanan, Yee Leung, Martin K Oehler, Alison Brand, Penelope M Webb, Amanda B Spurdle
We hypothesized that endometrial carcinoma (EC) patients with a prior cancer diagnosis, after accounting for EC arising after tamoxifen-treated prior breast carcinoma, are more likely to have an underlying genetic basis. We used information from a population-based study to compare measured risk factors, tumor characteristics, survival, and known mismatch repair (MMR) pathogenic variant status for EC subgroups according to prior diagnosis of cancer (none, breast cancer tamoxifen-treated or not, Lynch Syndrome (LS)-associated cancer)...
November 28, 2018: Cancer Medicine
https://read.qxmd.com/read/30430625/cutaneous-sebaceous-tumours-and-lynch-syndrome-long-term-follow-up-of-60-patients
#11
J Marcoval, A Talavera-Belmonte, R Fornons-Servent, A Bauer-Alonso, R M Penín, O Servitje
BACKGROUND: Sebaceous neoplasms (SN) may appear sporadically in the general population but may also be part of the Muir-Torre variant of Lynch syndrome (MT-LS). There are few studies in southern Europe on the incidence of MT-LS in the population of patients with SN. AIM: To retrospectively review patients with SN and to analyse their clinical features and the incidence of MT-LS. METHODS: Patients with SN diagnosed between 1995 and 2015 were enrolled in the study...
November 14, 2018: Clinical and Experimental Dermatology
https://read.qxmd.com/read/30412224/colorectal-premalignancy-is-associated-with-consensus-molecular-subtypes-1-and-2
#12
K Chang, J A Willis, J Reumers, M W Taggart, F A San Lucas, S Thirumurthi, P Kanth, D A Delker, C H Hagedorn, P M Lynch, L M Ellis, E T Hawk, P A Scheet, S Kopetz, J Arts, J Guinney, R Dienstmann, E Vilar
Background: Gene expression-based profiling of colorectal cancer (CRC) can be used to identify four molecularly homogeneous consensus molecular subtype (CMS) groups with unique biologic features. However, its applicability to colorectal premalignant lesions remains unknown. Patients and methods: We assembled the largest transcriptomic premalignancy dataset by integrating different public and proprietary cohorts of adenomatous and serrated polyps from sporadic (N = 311) and hereditary (N = 78) patient populations and carried out a comprehensive analysis of carcinogenesis pathways using the CMS random forest (RF) classifier...
October 1, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://read.qxmd.com/read/30322717/germline-pathogenic-variants-identified-in-women-with-ovarian-tumors
#13
Natalie J Carter, Megan L Marshall, Lisa R Susswein, Kristin K Zorn, Susan Hiraki, Kevin J Arvai, Rebecca I Torene, Anna K McGill, Lauren Yackowski, Patricia D Murphy, Zhixiong Xu, Benjamin D Solomon, Rachel T Klein, Kathleen S Hruska
OBJECTIVE: The recognition of genes implicated in ovarian cancer risk beyond BRCA1, BRCA2, and the Lynch syndrome genes has increased the variety of testing options available to providers and patients. We report the frequency of pathogenic variants identified among individuals with ovarian cancer undergoing clinical genetic testing via a multi-gene hereditary cancer panel. METHODS: Genetic testing of up to 32 genes using a hereditary cancer panel was performed on 4439 ovarian cancer cases, and results were analyzed for frequency of pathogenic variants...
October 12, 2018: Gynecologic Oncology
https://read.qxmd.com/read/30288284/features-of-incident-colorectal-cancer-in-lynch-syndrome
#14
Tanja E Argillander, Jan J Koornstra, Mariette van Kouwen, Alexandra Mj Langers, Fokko M Nagengast, Juda Vecht, Wouter H de Vos Tot Nederveen Cappel, Evelien Dekker, Peter van Duijvendijk, Hans Fa Vasen
Background and objective: Despite intensive colonoscopic surveillance, a substantial proportion of Lynch syndrome (LS) patients develop colorectal cancer (CRC). The aim of this study was to characterize incident CRC in LS patients. Methods: All patients diagnosed with incident CRC after start of colonoscopic surveillance were identified in the Dutch LS Registry of 905 patients. A retrospective analysis of patient records was carried out for patient characteristics, survival, CRC characteristics and findings of previous colonoscopy...
October 2018: United European Gastroenterology Journal
https://read.qxmd.com/read/30279230/fusion-kinases-identified-by-genomic-analyses-of-sporadic-microsatellite-instability-high-colorectal-cancers
#15
Kazuhito Sato, Masahito Kawazu, Yoko Yamamoto, Toshihide Ueno, Shinya Kojima, Genta Nagae, Hiroyuki Abe, Manabu Soda, Takafumi Oga, Shinji Kohsaka, Eirin Sai, Yoshihiro Yamashita, Hisae Iinuma, Masashi Fukayama, Hiroyuki Aburatani, Toshiaki Watanabe, Hiroyuki Mano
PURPOSE: Colorectal cancers (CRCs) with microsatellite instability-high (MSI-H) status, due to mismatch repair deficiency, are associated with poor patient outcomes after relapse. We aimed to identify novel therapeutic targets for them. EXPERIMENTAL DESIGN: We performed MSI analyses of over 2,800 surgically resected colorectal tumors obtained from consecutive patients treated in Japan from 1998 through June 2016. Whole-exome sequencing, transcriptome sequencing, and methylation analyses were performed on 149 of 162 tumors showing MSI in BAT25 and BAT26 loci...
October 2, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://read.qxmd.com/read/30274687/obesity-and-bowel-cancer-from-molecular-mechanisms-to-interventions
#16
REVIEW
John C Mathers
The purpose of this review article is to examine the evidence of the mechanisms linking obesity with bowel cancer risk and to comment on the development of interventions that may lower risk of this common age-related disease. The choice of topics for inclusion reflects my personal research on the etiology and prevention of bowel cancer over the past 3 decades. I have cited literature which addresses each of these topics, but because of the breadth of the review article, I have not attempted to do this systematically...
September 1, 2018: Nutrition Research
https://read.qxmd.com/read/30256826/novel-genetic-mutations-detected-by-multigene-panel-are-associated-with-hereditary-colorectal-cancer-predisposition
#17
Lorena Martin-Morales, Paula Rofes, Eduardo Diaz-Rubio, Patricia Llovet, Victor Lorca, Inmaculada Bando, Pedro Perez-Segura, Miguel de la Hoya, Pilar Garre, Vanesa Garcia-Barberan, Trinidad Caldes
Half of the high-risk colorectal cancer families that fulfill the clinical criteria for Lynch syndrome lack germline mutations in the mismatch repair (MMR) genes and remain unexplained. Genetic testing for hereditary cancers is rapidly evolving due to the introduction of multigene panels, which may identify more mutations than the old screening methods. The aim of this study is the use of a Next Generation Sequencing panel in order to find the genes involved in the cancer predisposition of these families. For this study, 98 patients from these unexplained families were tested with a multigene panel targeting 94 genes involved in cancer predisposition...
2018: PloS One
https://read.qxmd.com/read/30256257/incidence-of-mismatch-repair-protein-deficiency-and-associated-clinicopathologic-features-in-a-cohort-of-104-ovarian-endometrioid-carcinomas
#18
Jennifer A Bennett, Anna Pesci, Vicente Morales-Oyarvide, Annacarolina Da Silva, Valentina Nardi, Esther Oliva
Patients with Lynch syndrome have up to a 24% risk of developing ovarian carcinoma, but universal mismatch repair (MMR) protein testing of ovarian carcinomas is not standard practice in most institutions. We reviewed 104 unselected ovarian endometrioid carcinomas (OEC) for various clinicopathologic features to determine if any are predictive of MMR loss. Immunohistochemistry for all 4 MMR proteins was performed followed by MLH1 promoter methylation analysis when indicated. Overall, patients had a mean age of 55 years and tumors averaged 12 cm...
September 25, 2018: American Journal of Surgical Pathology
https://read.qxmd.com/read/30238922/targeted-next-generation-sequencing-of-mlh1-msh2-and-msh6-genes-in-patients-with-endometrial-carcinoma-50-years-of-age
#19
Taha Reşid Özdemir, Murat Alan, Muzaffer Sancı, Altuğ Koç
BACKGROUND: Lynch syndrome (LS), which is an inherited cancer disorder, has an increased lifetime risk for various cancers. Endometrial cancer (EC) is the most common extra-colonic cancer in LS. Guidelines recommend that patients with EC diagnosed under 50 years of age should be evaluated for LS. Molecular analysis of mismatch repair (MMR) genes and EPCAM gene is required for a definitive diagnosis of LS. AIMS: The purpose of this study was to report the mutation analysis of MMR genes using targeted next generation sequencing (NGS) in patients having EC diagnosed <50 years of age as the first study from Turkey, to our knowledge...
September 21, 2018: Balkan Medical Journal
https://read.qxmd.com/read/30237080/diagnosis-and-clinical-behavior-in-patients-with-lynch-like-syndrome
#20
L Adán-Merino, M Aldeguer-Martínez, E Alonso-Gamarra, F Valentín-Gómez, C Zaera-De la Fuente, S Martín-Chávarri
INTRODUCTION AND AIMS: Lynch-like syndrome is diagnosed when there is an expression deficit in DNA mismatch repair proteins but a normal genetic study. The behavior and management of that pathology are currently a subject of debate. We present herein the characteristics of patients with Lynch-like syndrome, together with a surveillance proposal. MATERIALS AND METHODS: Immunohistochemistry was carried out on families suspected of presenting with Lynch syndrome. Germline analysis was done if there was loss of mismatch repair protein expression and no BRAF mutation...
October 2018: Revista de Gastroenterología de México
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