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https://www.readbyqxmd.com/read/29731845/analysis-of-human-muts-homolog-2-missense-mutations-in-patients-with-colorectal-cancer
#1
Xiaomei Zhang, Senqing Chen, Jun Yu, Yuanying Zhang, Min Lv, Ming Zhu
Germline mutations of DNA mismatch repair gene human MutS homolog 2 ( hMSH2 ) are associated with hereditary nonpolyposis colorectal cancer (HNPCC). A total of one-third of these mutations are missense mutations. Several hMSH2 missense mutations have been identified in patients in East Asia, although their function has not been evaluated. In the present study, the role of ten hMSH2 missense mutations in the pathogenesis of colorectal cancer was examined. The hMSH2/hMSH6 protein interaction system was established using yeast two-hybrid screening...
May 2018: Oncology Letters
https://www.readbyqxmd.com/read/29704123/specific-features-of-colorectal-cancer-in-patients-with-metabolic-syndrome-a-matched-case-control-analysis-of-772-patients
#2
Alban Zarzavadjian Le Bian, Christine Denet, Nicolas Tabchouri, Gianfranco Donatelli, Philippe Wind, Christophe Louvet, Mostefa Bennamoun, Christos Christidis, Thierry Perniceni, David Fuks, Brice Gayet
PURPOSE: Although association between colorectal cancer (CRC) and metabolic syndrome (MetS) is established, specific features of CRC arising in patients presenting with MetS have not been clearly identified. METHOD: All patients who underwent colectomy for CRC from January 2005 to December 2014 at Institut Mutualiste Montsouris were identified from a prospectively collected database and characteristics were compared in the entire population and in a 1:2 matched case-control analysis [variables on which matching was performed were CRC localization (right- or left-sided) and AJCC stage (0 to IV)]...
April 27, 2018: Langenbeck's Archives of Surgery
https://www.readbyqxmd.com/read/29651783/unsolicited-information-letters-to-increase-awareness-of-lynch-syndrome-and-familial-colorectal-cancer-reactions-and-attitudes
#3
Helle Vendel Petersen, Birgitte Lidegaard Frederiksen, Charlotte Kvist Lautrup, Lars Joachim Lindberg, Steen Ladelund, Mef Nilbert
Dissemination of information on a genetically increased risk should according to guidelines primarily be family-mediated. Incomplete and incorrect information spread has, however, been documented and implies missed possibilities for prevention. In Denmark, the national HNPCC register has been granted an exception to send unsolicited letters with information on hereditary colorectal cancer and an invitation to genetic counseling to members of families with familial and hereditary colorectal cancer. To evaluate this approach, we investigated reactions and attitudes to unsolicited letters in 708 members of families with genetic predisposition and in 1600 individuals from the general population...
April 12, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29560090/mutation-of-tgf%C3%AE-rii-eliminates-nsaid-cancer-chemoprevention
#4
Juana Martín-López, Pierluigi Gasparini, Kevin Coombes, Carlo M Croce, Gregory P Boivin, Richard Fishel
Non-steroidal anti-inflammatory drugs (NSAIDs) exhibit anti-neoplastic (chemoprevention) activity for sporadic cancers and the hereditary cancer predisposition Lynch syndrome (LS/HNPCC). However, the mechanism of NSAID tumor suppression has remained enigmatic. Defects in the core mismatch repair (MMR) genes MSH2 and MLH1 are the principal drivers of LS/HNPCC. Previous work has demonstrated that the villin - Cre+/- Msh2flox/flox (VpC-Msh2) mouse is a reliable model for LS/HNPCC intestinal tumorigenesis, which is significantly suppressed by treatment with the NSAID aspirin (ASA) similar to human chemoprevention...
February 27, 2018: Oncotarget
https://www.readbyqxmd.com/read/29498365/-small-intestine-neoplasms
#5
EDITORIAL
Tomasy Sarosiek, Małgorzata Stelmaszuk
Small intestine tumors are rarely diagnosed as they constitute only 0.6% of all malignant tumors, including about 1-3% of malignant neoplasms of the gastrointestinal tract. They also advocate for 0.2% of deaths caused by malignant tumors. Factors that increase the risk of disease include Crohn's disease, familial adenomatous polyposis (FAP), Lynch syndrome (HNPCC - hereditary non-polyposis colorectal cancer), Peuz-Jeghers syndrome, celiac disease and acquired immunodeficiency syndrome (AIDS). Diagnosis of small intestinal tumors is difficult because the symptoms reported by patients are not characteristic...
February 23, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29447627/lynch-syndrome-and-muir-torre-syndrome-an-update-and-review-on-the-genetics-epidemiology-and-management-of-two-related-disorders
#6
REVIEW
Stephanie Le, Umer Ansari, Aisha Mumtaz, Kunal Malik, Parth Patel, Amanda Doyle, Amor Khachemoune
Hereditary Nonpolyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome, is an autosomal dominant, tumor predisposing disorder usuallycaused by germline mutations in mismatch repair (MMR) genes. A subset of HNPCC, Muir-Torre Syndrome (MTS) also involves MMR gene defects and is generally accepted as a variant of HNPCC. MTS is typicallycharacterized by at least one visceral malignancy and one cutaneous neoplasm of sebaceous differentiation, with or without keratoacanthomas. In either version of the disorder, nonfunctional MMR systems lead tothe loss of genomic integrity, marked commonly by mismatches in repetitive DNA sequences, resulting in microsatellite instabilities...
November 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29237405/prevalence-and-characteristics-of-hereditary-non-polyposis-colorectal-cancer-hnpcc-syndrome-in-immigrant-asian-colorectal-cancer-patients
#7
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/29178089/-current-status-of-hereditary-gastrointestinal-neoplasms
#8
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/29158803/association-between-mismatch-repair-genetic-variation-and-the-risk-of-multiple-primary-cancers-a-meta-analysis
#9
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/29081690/familial-colorectal-cancer-type-x
#10
REVIEW
Diana Bregner Zetner, Marie Luise Bisgaard
The genetic background is unknown for the 50-60% of the HNPCC families, who fulfill the Amsterdam criteria, but do not have a mutation in an MMR gene, and is referred to as FCCTX. This study reviews the clinical, morphological and molecular characteristics of FCCTX, and discusses the molecular genetic methods used to localize new FCCTX genes, along with an overview of the genes and chromosomal areas that possibly relate to FCCTX. FCCTX is a heterogeneous group, mainly comprising cases caused by single high-penetrance genes, or by multiple low-penetrance genes acting together, and sporadic CRC cases...
August 2017: Current Genomics
https://www.readbyqxmd.com/read/29049220/the-association-between-ccnd1-g870a-polymorphism-and-colorectal-cancer-risk-a-meta-analysis
#11
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
#12
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/28846816/granulomatous-skin-reactions-after-tumor-vaccine-in-two-patients
#13
Christian Menzer, Andreas Epple, Marta Kogut, Alexander Enk, Eva Hadaschik, Knut Schaekel
Two patients with HNPCC-syndrome (Hereditary Non-Polyposis Colorectal Cancer), an autosomal dominant genetic disorder in which patients are at higher risk of developing colorectal cancer, presented in our out-patient clinic with asymptomatic skin alterations at the injection sites of an experimental tumor-specific vaccine. The vaccine was given as part of a study in which colorectal carcinoma patients with lymph node and organ metastases and high microsatellite instability (MSI-H) received a vaccine containing fragments of specific tumor proteins...
August 28, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28783501/high-risk-family-colorectal-cancer-screening-service-in-ireland-critical-review-of-clinical-outcomes
#14
REVIEW
Margaret Walshe, Robert Moran, Marie Boyle, Ion Cretu, Zita Galvin, Victoria Swan, Jason Trikovic, Michael P Farrell, Sinéad Foy, Loretta O'Brien, Jan Leyden, Niall Mulligan, Helen Fenlon, David J Gallagher, Padraic MacMathúna
BACKGROUND: We present the 15-year experience of a family colorectal cancer screening service in Ireland with emphasis on real life experience and outcomes. METHODS: Questionnaires were used to assess family cancer history and assign patients to risk categories; 'Moderate Risk', HNPCC, (suspected) genetic syndrome (non-HNPCC), 'Low Risk'. Screening was by full colonoscopy. We report neoplastic yield, examining effect of risk category, age, gender, and index colonoscopy findings...
October 2017: Cancer Epidemiology
https://www.readbyqxmd.com/read/28737456/-significance-of-the-monitoring-and-screening-for-hereditary-nonpolyposis-colorectal-carcinoma-syndrome-patients-by-presenting-a-case-of-a-family-tree
#15
Gergely Kóder, Judit Olasz, László Tóth, Hilda Urbancsek, Csilla András, Tamás Bubán, Károly Palatka, László Damjanovich, Miklós Tanyi
INTRODUCTION: Hereditary nonpolyposis colorectal carcinoma (HNPCC) is an autosomal dominant disease, which shows familial clustering. AIM: We would like to emphasize the importance of monitoring the HNPCC syndrome patients by presenting a case of a proven MMR gene mutation carrier and her family tree encompassing 10 years. MATERIALS AND METHOD: To screen a suspected HNPCC Hungarian family member we are taking thorough family histories. If the diagnosis of HNPCC was further supported by immunohistology and the microsatellite status, sequencing of the MMR genes was carried out...
July 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28701784/familial-associations-of-colorectal-cancer-with-other-cancers
#16
Hongyao Yu, Akseli Hemminki, Kristina Sundquist, Kari Hemminki
Colorectal cancer (CRC) has a strong familial component which extends to discordant cancers (ie non-CRC tumors). This is best seen in cancer syndromes such as hereditary non-polyposis colorectal cancer (HNPCC) which predisposes to several tumor types. Population-based family studies have also found discordant associations for CRC but they have included cancers which manifest in HNPCC, and there is no convincing evidence of discordant associations beyond the known syndromes. We address familial associations of non-CRC tumors with CRC using the resources of the Swedish Family-Cancer Database and applying a powerful approach of assessing familial relative risks in families of increasing numbers of patients with discordant cancers...
July 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28699072/expending-role-of-microsatellite-instability-in-diagnosis-and-treatment-of-colorectal-cancers
#17
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...
December 2017: Journal of Gastrointestinal Cancer
https://www.readbyqxmd.com/read/28696559/genetic-testing-for-hereditary-nonpolyposis-colorectal-cancer-hnpcc
#18
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/28643760/validation-of-microsatellite-instability-histology-scores-with-bethesda-guidelines-in-hereditary-nonpolyposis-colorectal-cancer
#19
Mustafa Kaya, Fatih Basak, Abdullah Sisik, Mustafa Hasbahceci, Gurhan Bas, Orhan Alimoglu, Cumhur Selçuk Topal, Gozde Kir
AIMS: Hereditary nonpolyposis colorectal cancer (HNPCC) is a subgroup of colorectal cancer (CRC) which should be differentiated because of the high risk for additional cancers and risk evaluation for other family members, especially for CRC. It is not practical to perform genetic testing for all CRC patients; therefore, various prediction modalities, for example, Bethesda guideline (BG) were studied in the literature. We aimed to assess the association of microsatellite instability (MSI), histology scores, and BG for predicting HNPCC risk...
April 2017: Journal of Cancer Research and Therapeutics
https://www.readbyqxmd.com/read/28607805/simplified-microsatellite-instability-detection-protocol-provides-equivalent-sensitivity-to-robust-detection-strategies-in-lynch-syndrome-patients
#20
Hadi Babaei, Mehrdad Zeinalian, Mohammad Hassan Emami, Mortaza Hashemzadeh, Najmeh Farahani, Rasoul Salehi
OBJECTIVE: : Germline mutations in mismatch repair (MMR) genes cause Lynch syndrome (LS). LS is an inherited disease, and an important consequence of MMR deficiency is microsatellite instability (MSI) phenotype. MSI phenotype influences the efficacy of 5 fluorouracil (5-FU) chemotherapy. Reproducible, cost effective, and easy to perform laboratory tests are required to include MSI detection in routine laboratory practice. Evaluation of CAT25 as monomorphic short tandem repeat sequence enables CAT25 to be an efficient screening tool among hereditary nonpolyposis colorectal cancer (HNPCC) patients compared with other methods used currently...
May 2017: Cancer Biology & Medicine
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