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hereditary colorectal cancer

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https://www.readbyqxmd.com/read/29341041/screening-interval-recommendations-following-a-normal%C3%A2-colonoscopy-in-individuals-with-a-familial-risk-of%C3%A2-colorectal-cancer
#1
Jasper Plath, Andrea Siebenhofer, Corina Guethlin, Irina Blumenstein
BACKGROUND:  In view of the increased risk of developing colorectal cancer (CRC) in individuals with affected first-degree relatives (FDRs), the German evidence-based S3 guideline recommends having the first screening colonoscopy early and then, following a normal examination, repeating it at least every 10 years. The aim of this analysis was to explore colonoscopy interval recommendations in clinical practice among individuals aged < 55 years with a familial risk of CRC. METHODS:  We analyzed data from the FRIDA...
January 16, 2018: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/29333064/colorectal-polyposis-and-inherited-colorectal-cancer-syndromes
#2
REVIEW
Raphael M Byrne, Vassiliki Liana Tsikitis
The majority of colorectal cancer (CRC) cases are sporadic, with hereditary factors contributing to approximately 35% of CRC cases. Less than 5% of CRC is associated with a known genetic syndrome. Although adenomatous polyposis syndromes, hamartomatous polyposis syndromes, and those previously classified as non-polyposis CRC syndromes are quite rare, it is important for clinicians to know the characteristics of each syndrome and to understand the differences in cancer risks between the different conditions...
January 2018: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/29330641/characteristics-of-mutyh-variants-in-japanese-colorectal-polyposis-patients
#3
Misato Takao, Tatsuro Yamaguchi, Hidetaka Eguchi, Yuhki Tada, Masakazu Kohda, Koichi Koizumi, Shin-Ichiro Horiguchi, Yasushi Okazaki, Hideyuki Ishida
BACKGROUND: The base excision repair gene MUTYH is the causative gene of colorectal polyposis syndrome, which is an autosomal recessive disorder associated with a high risk of colorectal cancer. Since few studies have investigated the genotype-phenotype association in Japanese patients with MUTYH variants, the aim of this study was to clarify the clinicopathological findings in Japanese patients with MUTYH gene variants who were detected by screening causative genes associated with hereditary colorectal polyposis...
January 12, 2018: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29324375/cancer-in-an-unexpected-site-post-pouch-surgery-for-familial-adenomatous-polyposis-fap
#4
Omar A Alwahbi, Alaa S Abduljabbar, Lucman A Anwer
INTRODUCTION: Familial Adenomatous Polyposis (FAP) is a hereditary condition characterized by multiple colorectal adenomatous polyps. FAP is the most common adenomatous polyposis syndrome. Restorative proctocolectomy is the most commonly performed surgical procedure performed for patients suffering from FAP with different options for anastomosis, namely ileorectal anastomosis (IRA) or ileal pouch anal anastomosis (IPAA). The occurrence of adenomas is a common finding during follow up and surveillance post surgery for these patients...
December 28, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29237405/prevalence-and-characteristics-of-hereditary-non-polyposis-colorectal-cancer-hnpcc-syndrome-in-immigrant-asian-colorectal-cancer-patients
#5
Jasmine Lee, Yin-Yi Xiao, Yan Yu Sun, Jasminka Balderacchi, Bradley Clark, Jatin Desani, Vivek Kumar, Angela Saverimuthu, Khin Than Win, Yiwu Huang, Yiqing Xu
BACKGROUND: The prevalence of Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is 2 to 5% in the Caucasian population. HNPCC is caused by genomic mutations in DNA mismatch repair genes (MMR), namely MLH1, MSH2, MSH6, PMS2, and EPCAM. A non-hereditary, acquired process of hypermethylation of the MLH1 promoter can also lead to silencing of MLH1 protein expression. Diagnosis of HNPCC in patients with colorectal and other related cancers is important in the clinical treatment and surveillance of related cancers...
December 13, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29230115/interval-colorectal-cancers-at-ochsner-medical-center-where-do-we-stand
#6
Felicia Humphrey, Mariella Gastañaduy, James Smith, Charles B Whitlow
Background: An interval colorectal cancer is a cancer diagnosed prior to the recommended follow-up time from a previously negative colonoscopy. These cancers are thought to arise from a rapidly growing cancer, missed cancer, or incompletely resected adenomas. Our study aimed to identify interval cancers diagnosed during a 4-year period and to identify any potential risk factors associated with these cancers. Secondly, we compared our interval colorectal cancer rate with other published rates...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/29226326/retreg1-fam134b-a-new-player-in-human-diseases-15-years-after-the-discovery-in-cancer
#7
REVIEW
Farhadul Islam, Vinod Gopalan, Alfred King-Yin Lam
FAM134B (family with sequence similarity 134, member B) / RETREG1 and its functional roles are relatively new in human diseases. This review aimed to summarize various functions of FAM134B since our first discovery of the gene in 2001. The protein encoded by FAM134B is a reticulophagy receptor that regulates turnover of the endoplasmic reticulum (ER) by selective phagocytosis. Absence or non-functional expression of FAM134B protein impairs ER-turnover and thereby is involved in the pathogenesis of some human diseases...
December 11, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29203393/pyrin-inflammasome-regulates-tight-junction-integrity-to-restrict-colitis-and-tumorigenesis
#8
Deepika Sharma, Ankit Malik, Clifford S Guy, Rajendra Karki, Peter Vogel, Thirumala-Devi Kanneganti
BACKGROUND & AIMS: Inflammatory bowel diseases (IBD) increase risk for colorectal cancer. Mutations in the Mediterranean fever gene (MEFV or pyrin) are associated with hereditary autoinflammatory disease and severe IBD. Expression of MEFV, a sensor protein that the initiates assembly of the inflammasome complex, is increased in colon biopsies from patients with IBD. We investigated the role of pyrin in intestinal homeostasis in mice. METHODS: Mefv-/- mice and C57/BL6 mice (controls) were given azoxymethane followed by multiple rounds of dextran sodium sulfate (DSS) to induce colitis and tumorigenesis...
December 1, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29188631/-advance-in-research-on-the-correlation-between-genotypes-of-susceptible-mutations-and-clinical-phenotype-of-familial-adenomatous-polyposis
#9
Shengliang He, Jing Du, Fangqi Liu
Familial adenomatous polyposis (FAP) is one of the most common hereditary colorectal cancers. Its intestinal and extra-intestinal manifestations are correlated with mutation sties of the APC gene. Potential gene modulation sites in patients who have typical clinical manifestations but with unidentified APC mutations are also discussed, which included MUTYH gene, AXIN gene and certain epigenetic changes. With the generalization of Precision Medicine, to offer individualized treatment and surveillance strategy based on the genotype-phenotype correlation will be of great value for FAP patients...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29178089/-current-status-of-hereditary-gastrointestinal-neoplasms
#10
Yulong He
Gastric cancer and colorectal cancer are two common malignant tumors in digestive tract. 1% to 3% of gastric cancer and 5% to 15% of colorectal cancer are definitely hereditary cancer caused by germline gene mutation. Hereditary gastric cancer includes hereditary diffuse gastric cancer(HDGC) and hereditary intestinal gastric cancer (HIGC). CDH1 gene mutation is the main reason to cause HDGC, so the first degree and the second degree family members of HDGC patients are recommended to receive CDH1 mutation detection, endoscopic examination every year and undergo preventive total gastrectomy...
November 25, 2017: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/29174953/signature-celebration-of-gastroenterology-colorectal-cancer
#11
Andrew T Chan, Paul Moayyedi
Gastroenterology has published many seminal articles that have transformed our understanding of colorectal cancer (CRC) as well as being influential in promoting colorectal cancer screening which has saved many people from developing the disease. CRC has a hereditary component most notably highlighted in Lynch syndrome. A key paper reported that the majority of mutations in patients with hereditary nonpolyposis colorectal cancer harbored mutations in the MLH1 or MSH2 mismatch repair proteins. Continuing on the gene mutation theme, another paper...
November 23, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29169633/pathology-and-genetics-of-hereditary-colorectal-cancer
#12
REVIEW
Huiying Ma, Lodewijk A A Brosens, G Johan A Offerhaus, Francis M Giardiello, Wendy W J de Leng, Elizabeth A Montgomery
Colorectal cancer (CRC) accounts for over 8% of all deaths annually worldwide. Between 2 and 5% of all CRCs occur due to inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis and Cowden/PTEN hamartoma syndrome. In addition, serrated polyposis is a clinically defined condition characterised by multiple colorectal serrated polyps and an increased risk of CRC but the genetics are not known. In most hereditary CRC syndromes, polyps undergo carcinogenesis, but the exact route to carcinoma seems to differ between the conditions...
November 20, 2017: Pathology
https://www.readbyqxmd.com/read/29158803/association-between-mismatch-repair-genetic-variation-and-the-risk-of-multiple-primary-cancers-a-meta-analysis
#13
Pengfei Kong, Ruiyan Wu, Yadong Lan, Wenzhuo He, Chenlu Yang, Chenxi Yin, Qiong Yang, Chang Jiang, Dazhi Xu, Liangping Xia
Microsatellites instability (MSI) is a risk factor for multiple primary cancers (MPCs). However, a variety of studies focused on the risk in the hereditary non-polyposis colorectal cancer (HNPCC) not the sporadic colorectal cancer (CRC) patients. The aim of this meta-analysis was to comprehensive overview and quantitative summary the association between MSI and risk of MPCs. A comprehensive literature search in MEDLINE, EMBASE, Web of science, ScienceDirect, Weily and OVID was conducted. Up to May 2016, we identified 22 observational studies...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/29152499/integrating-surgery-and-genetic-testing-for-the-modern-surgeon
#14
REVIEW
Raul Caso, Matthew Beamer, Alexander D Lofthus, Michael Sosin
The field of cancer genetics is rapidly evolving and several genetic mutations have been identified in hereditary cancer syndromes. These mutations can be diagnosed via routine genetic testing allowing prompt intervention. This is especially true for certain variants of colorectal, breast, and thyroid cancers where genetic testing may guide surgical therapy. Ultimately, surgical intervention may drastically diminish disease manifestation or progression in individuals deemed as high-risk based on their genetic makeup...
October 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/29147111/hereditary-colorectal-tumors-a-literature-review-on-mutyh-associated-polyposis
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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