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hereditary colorectal cancer

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https://www.readbyqxmd.com/read/29147111/hereditary-colorectal-tumors-a-literature-review-on-mutyh-associated-polyposis
#1
REVIEW
Micaella Kantor, Javier Sobrado, Sima Patel, Sara Eiseler, Christopher Ochner
MAP (MUTYH-associated polyposis) is a syndrome, described in 2002, which is associated with colorectal adenomas, with enhanced colorectal carcinogenesis. This review synthesizes the available literature on MAP and outlines its pathogenesis, association with colorectal tumorigenesis, screening, treatment, and the subtle differences between it and its close cousins-FAP and AFAP. The preponderance of data is collected using MAP guidelines. However, although AFAP and MAP appear similar, potentially important distinctions exist, warranting targeted diagnostic criteria and treatment approaches...
2017: Gastroenterology Research and Practice
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/29138373/-i-key-points-of-the-guidelines-for-clinical-practice-of-hereditary-colorectal-cancer
#3
Hideyuki Ishida, Tatsuro Yamaguchi, Kohji Tanakaya, Kiwamu Akagi, Shigeki Sekine, Hideki Shimodaira, Naohiro Tomita, Kenichi Sugihara, Toshiaki Watanabe
No abstract text is available yet for this article.
November 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29123579/blood-serum-levels-of-e-cadherin-in-patients-with-colorectal-cancer
#4
Dariusz Cepowicz, Konrad Zaręba, Anna Pryczynicz, Tomasz Dawidziuk, Joanna Żurawska, Joanna Hołody-Zaręba, Mariusz Gryko, Bogusław Kędra
Introduction: Colorectal cancer is the second most common cancer in terms of incidence in Poland. It is also the second most common cause of cancer deaths in men and the third women. In 75-80% of cases, depending on sources, it is of an occasional nature, and in the remaining 20-25% it has a hereditary character. Aim: To compare the levels of E-cadherin in blood serum with some histopathological and clinical features. E-cadherin is an adhesion molecule, loss of function of which is suspected to influence both cancer progression and metastasis...
2017: Przegla̜d Gastroenterologiczny
https://www.readbyqxmd.com/read/29114914/a-bayesian-scoring-rule-on-clustered-event-data-for-familial-risk-assessment-an-example-from-colorectal-cancer-screening
#5
Anna K Rieger, Ulrich R Mansmann
Colorectal cancer screening is well established. The identification of high risk populations is the key to implement effective risk-adjusted screening. Good statistical approaches for risk prediction do not exist. The family's colorectal cancer history is used for identification of high risk families and usually assessed by a questionnaire. This paper introduces a prediction algorithm to designate a family for colorectal cancer risk and discusses its statistical properties. The new algorithm uses Bayesian reasoning and a detailed family history illustrated by a pedigree and a Lexis diagram...
November 8, 2017: Biometrical Journal. Biometrische Zeitschrift
https://www.readbyqxmd.com/read/29113157/lack-of-microsatellite-instability-in-gastrointestinal-stromal-tumors
#6
Nathália C Campanella, Cristovam Scapulatempo-Neto, Lucas Faria Abrahão-Machado, Antônio Talvane Torres De Oliveira, Gustavo N Berardinelli, Denise Peixoto Guimarães, Rui M Reis
The microsatellite instability (MSI) phenotype may constitute an important biomarker for patient response to immunotherapy, particularly to anti-programmed death-1 inhibitors. MSI is a type of genomic instability caused by a defect in DNA mismatch repair (MMR) proteins, which is present mainly in colorectal cancer and its hereditary form, hereditary nonpolyposis colorectal cancer. Gastrointestinal stromal tumor (GIST) development is associated with activating mutations of KIT proto-oncogene receptor tyrosine kinase (KIT) or platelet-derived growth factor receptor α (PDGFRA), which are oncogenes that predict the response to imatinib mesylate...
November 2017: Oncology Letters
https://www.readbyqxmd.com/read/29096939/familial-colorectal-cancer-type-x-fcctx-and-the-correlation-with-various-genes-a-systematic-review
#7
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
#8
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/29066916/mutation-analysis-and-copy-number-alterations-of-kif23-in-non-small-cell-lung-cancer-exhibiting-kif23-over-expression
#9
Ann-Louise Vikberg, Tõnu Vooder, Kaie Lokk, Tarmo Annilo, Irina Golovleva
KIF23 was recently suggested to be a potential molecular target for the treatment of lung cancer. This proposal is based on elevated expression of KIF23 in several tumors affecting breast, lung, brain, and liver, and also on the presence of KIF23 mutations in melanoma and colorectal cancer. Recently, we identified a mutation in the KIF23 gene causing a rare hereditary form of dyserythropoietic anemia (CDA III) with predisposition to blood cancer. We suggested that KIF23 overexpression in tumors might be due to the presence of activating somatic mutations, and therefore, mutation screening of the KIF23 in 15 non-small-cell lung cancer (NSCLC) cases with elevated expression level of KIF23 was undertaken...
2017: OncoTargets and Therapy
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
#10
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/29055842/clinical-and-molecular-characterisation-of-hereditary-and-sporadic-metastatic-colorectal-cancers-harbouring-microsatellite-instability-dna-mismatch-repair-deficiency
#11
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/29049220/the-association-between-ccnd1-g870a-polymorphism-and-colorectal-cancer-risk-a-meta-analysis
#12
REVIEW
Mei Xie, Fen Zhao, Xiaoling Zou, Shuai Jin, Shaoquan Xiong
BACKGROUND: CyclinD1 (CCND1) is a key cell cycle regulatory protein. A large number of epidemiological studies have assessed the potential correlation between the CCND1 G870A polymorphism and the risk of colorectal cancer (CRC), but their findings have been inconsistent. To obtain a more precise understanding of the association between the G870A polymorphism in the CCND1 gene and the CRC risk, we conducted a more comprehensive meta-analysis. METHODOLOGY: We searched PubMed, Ovid, Springer, Weipu, China National Knowledge Infrastructure (CNKI), and Wanfang databases, covering all publications (the last search was updated on January 10, 2017)...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29033182/pd-l1-expression-in-hnpcc-associated-colorectal-cancer
#13
Naila Shiraliyeva, Jacqueline Friedrichs, Reinhard Buettner, Nicolaus Friedrichs
BACKGROUND: PD-L1 immunohistochemistry is predictive for molecular inhibitors of PD-1/PD-L1 immune checkpoint. Therefore, this study evaluated the PD-L1 expression in patients with Hereditary Non-Polyposis Colorectal Cancer (HNPCC). METHODS: Immunohistochemical expression of PD-L1 in carcinoma cells, stromal macrophages and lymphocytes of 40 HNPCC-patients with colorectal cancer was scored semi-quantitatively. RESULTS: Focal (2 cases) to extensive (2 cases) PD-L1-immunopositivity of carcinoma cells was detected in 4 out of 40 cases (10...
September 18, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/29022408/screening-of-colorectal-cancer-present-and-future
#14
Marcello Maida, Fabio Salvatore Macaluso, Gianluca Ianiro, Francesca Mangiola, Emanuele Sinagra, Georgina Hold, Carlo Maida, Giovanni Cammarota, Antonio Gasbarrini, Giuseppe Scarpulla
Colorectal cancer (CRC) is the third most common cancer in males and second in females, and the fourth most common cause of cancer death worldwide. Currently, about 60-70% of diagnosed cases in symptomatic patients are detected at an advanced stage of disease. Earlier stage detection through the use of screening strategies would allow for better outcomes in terms of reducing the disease burden. Areas covered: The aim of this paper is to review the current published evidence from literature which assesses the performance and effectiveness of different screening tests for the early detection of CRC...
October 12, 2017: Expert Review of Anticancer Therapy
https://www.readbyqxmd.com/read/28989591/familial-colorectal-cancer-type-x-in-central-iran-a-new-clinicopathologic-description
#15
Mehrdad Zeinalian, Mahdi Hadian, Morteza Hashemzadeh-Chaleshtori, Rasoul Salehi, Mohammad Hassan Emami
Background: Familial colorectal cancer type X (FCCX) is a subtype of mismatch repair (MMR)-proficient colorectal cancerin which the patients are clinically at risk for Lynch syndrome (LS), a common hereditary cancer predisposing syndrome. In this study, we described a new clinicopathological feature of the condition in central Iran. Materials and Methods: We designed a descriptive, retrospective study to screenat-risk colorectal cancer (CRC) patients, using Amsterdam II criteria and Molecular analysis in Isfahan (central Iran) throughout 2000-2013 period...
July 1, 2017: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/28988047/the-identification-of-lynch-syndrome-in-congolese-colorectal-cancer-patients
#16
Henriette Poaty, Chandra Aba Gandzion, Isabelle Soubeyran, Déby Gassaye, Jean Félix Peko, Jean Bernard Nkoua Bon, Charles Gombé Mbalawa
BACKGROUND: We aimed to investigate the prevalence of Lynch syndrome as one of hereditary causes of colorectal cancer (CRC) among young Congolese individuals affected by the CRC, and to define methods for diagnosis in Congo Brazzaville. METHODS: We conducted a transversal cohort study of 34 patients having a CRC with a family history for a period of eight years. They were selected among 89 CRCs of any type from the Bethesda guidelines criteria combined with pedigrees...
October 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/28978970/continuing-medical-education-questions-october-2017-hereditary-colorectal-polyposis-and-cancer-syndromes-a-primer-on-diagnosis-and-management
#17
REVIEW
Ashish Malhotra, M N Paul
No abstract text is available yet for this article.
October 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28978964/continuing-medical-education-october-2017-hereditary-colorectal-polyposis-and-cancer-syndromes-a-primer-on-diagnosis-and-management
#18
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
October 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28975465/expanding-the-spectrum-of-germline-variants-in-cancer
#19
Abdul K Siraj, Tariq Masoodi, Rong Bu, Sandeep Kumar Parvathareddy, Ismail A Al-Badawi, Nasser Al-Sanea, Luai H Ashari, Alaa Abduljabbar, Samar Alhomoud, Saif S Al-Sobhi, Asma Tulbah, Dahish Ajarim, Khalid Alzoman, Muna Aljuboury, Hussam Bin Yousef, Mohammed Al-Dawish, Fouad Al-Dayel, Fowzan S Alkuraya, Khawla S Al-Kuraya
Our ability to identify germline variants in hereditary cancer cases remains challenged by the incomplete cataloging of relevant genes and lack of consensus on who should be tested. We designed a panel [hereditary oncogenesis predisposition evaluation (HOPE)] that encompasses most of the genes known to be associated with cancer development and tested its yield on more than 1300 samples of cancer patients. Pathogenic or likely pathogenic variants in high and intermediate risk genes were identified in 16, 23...
October 3, 2017: Human Genetics
https://www.readbyqxmd.com/read/28973356/setd6-dominant-negative-mutation-in-familial-colorectal-cancer-type-x
#20
Lorena Martín-Morales, Michal Feldman, Zlata Vershinin, Pilar Garre, Trinidad Caldés, Dan Levy
Familiar colorectal cancer type X (FCCTX) comprises families that fulfill the Amsterdam criteria for hereditary non-polyposis colorectal cancer, but that lack the mismatch repair deficiency that defines the Lynch syndrome. Thus, the genetic cause that increases the predisposition to colorectal and other related cancers in families with FCCTX remains to be elucidated. Using whole-exome sequencing, we have identified a truncating mutation in the SETD6 gene (c.791_792insA, p.Met264IlefsTer3) in all the affected members of a FCCTX family...
November 15, 2017: Human Molecular Genetics
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