Pedigree and genetic analysis of a novel mutation carrier patient suffering from hereditary nonpolyposis colorectal cancer.

Abstract:

AIM:To screen a suspected Hungarian HNPCC family to find specific mutations and to evaluate their effect on the presentation of the disease. METHODS:The family was identified by applying the Amsterdam and Bethesda Criteria. Immunohistochemistry was performed, and DNA samples isolated from tumor tissue were evaluated for microsatellite instability. The identification of possible mutations was carried out by sequencing the hMLH1 and hMSH2 genes. RESULTS:Two different mutations were observed in the index patient and in his family members. The first mutation was located in exon 7, codon 422 of hMSH2, and caused a change from Glu to STOP codon. No other report of such a mutation has been published, as far as we could find in the international databases. The second mutation was found in exon 3 codon 127 of the hMSH2 gene, resulting in Asp-->Ser substitution. The second mutation was already published, as a non-pathogenic allelic variation. CONCLUSION:The pedigree analysis suggested that the newly detected nonsense mutation in exon 7 of the hMSH2 gene might be responsible for the development of colon cancers. In family members where the exon 7 mutation is not coupled with this missense mutation, colon cancer appears after the age of 40. The association of these two mutations seems to decrease the age of manifestation of the disease into the early thirties.

journal_name

World J Gastroenterol

authors

Tanyi M,Olasz J,Lukács G,Csuka O,Tóth L,Szentirmay Z,Ress Z,Barta Z,Tanyi JL,Damjanovich L

doi

10.3748/wjg.v12.i8.1192

keywords:

subject

Has Abstract

pub_date

2006-02-28 00:00:00

pages

1192-7

issue

8

eissn

1007-9327

issn

2219-2840

journal_volume

12

pub_type

杂志文章
  • Proinflammatory effects and molecular mechanisms of interleukin-17 in intestinal epithelial cell line HT-29.

    abstract:AIM:To evaluate the proinflammatory effects and molecular mechanisms of interleukin (IL)-17 in intestinal epithelial cell line HT-29. METHODS:HT-29 cells were cultured with IL-17, tumor necrosis factor (TNF)-α, or the combination of both IL-17 and TNF-α. Real-time PCR and Western blot were used to measure the gene exp...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v20.i47.17924

    authors: Wang YL,Fang M,Wang XM,Liu WY,Zheng YJ,Wu XB,Tao R

    更新日期:2014-12-21 00:00:00

  • Dietary compliance in celiac disease.

    abstract::Celiac disease is an immune-mediated disorder that causes severe architectural disturbance in the small intestinal mucosa of genetically-predisposed individuals. Impaired absorption of multiple nutrients results and diarrhea and weight loss develop. Evidence has accumulated that a strict gluten-free diet can result in...

    journal_title:World journal of gastroenterology

    pub_type: 社论

    doi:10.3748/wjg.v23.i15.2635

    authors: Freeman HJ

    更新日期:2017-04-21 00:00:00

  • Culture-guided treatment approach for Helicobacter pylori infection: review of the literature.

    abstract::The progressive loss of efficacy of standard eradication therapies has made the treatment of Helicobacter pylori (H. pylori) more challenging than ever. Endoscopic-guided antibiotic susceptibility testing had previously been suggested to guide treatment after failure of second-line therapies. However, its role has exp...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,评审

    doi:10.3748/wjg.v20.i18.5205

    authors: Cammarota G,Ianiro G,Bibbò S,Di Rienzo TA,Masucci L,Sanguinetti M,Gasbarrini A

    更新日期:2014-05-14 00:00:00

  • When combination therapy isn't working: emerging therapies for the management of inflammatory bowel disease.

    abstract::Although antagonists of tumor necrosis factor have resulted in major therapeutic benefits in inflammatory bowel disease, the magnitude and durability of response are variable. Similar to previously available drugs such as 5-aminosalicylates and immunomodulators, the therapeutic effect is not universal leaving many peo...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,评审

    doi:10.3748/wjg.v20.i5.1139

    authors: Krishnareddy S,Swaminath A

    更新日期:2014-02-07 00:00:00

  • Breastfeeding and chronic HBV infection: clinical and social implications.

    abstract::Mother-to-child transmission of hepatitis B virus (HBV) is among the most important causes of chronic HBV infection and is the commonest mode of transmission worldwide. Currently, the presence of HBsAg, HBeAg and HBV DNA in breast milk is confirmed. Several studies have reported that breastfeeding carries no additiona...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,评审

    doi:10.3748/wjg.v16.i40.5042

    authors: Petrova M,Kamburov V

    更新日期:2010-10-28 00:00:00

  • Laparoscopic resection of synchronous intraductal papillary mucinous neoplasms: a case report.

    abstract::We describe herein a 68-year-old woman who was diagnosed with a quite rare entity of intraductal papillary mucinous neoplasms (IPMNs) occurring simultaneously in the left lateral lobe of liver and the tail of pancreas. Abdominal computed tomography and magnetic resonance cholangiopancreatography showed a cystic dilata...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v18.i44.6510

    authors: Xu XW,Li RH,Zhou W,Wang J,Zhang RC,Chen K,Mou YP

    更新日期:2012-11-28 00:00:00

  • International guidelines for the management of pancreatic intraductal papillary mucinous neoplasms.

    abstract::The management of intraductal papillary mucinous neoplasms (IPMN) is presently evolving as a result of the improved understanding of the natural history and biological behavior of the different pancreatic cystic neoplasms; and better preoperative diagnosis of these neoplasms due to advancement in preoperative diagnost...

    journal_title:World journal of gastroenterology

    pub_type: 社论

    doi:10.3748/wjg.v21.i34.9833

    authors: Goh BK

    更新日期:2015-09-14 00:00:00

  • Imaging diagnosis of 12 patients with hepatic tuberculosis.

    abstract:AIM:To assess CT, MR manifestations and their diagnostic value in hepatic tuberculosis. METHODS:CT findings in 12 cases and MR findings in 4 cases of hepatic tuberculosis proved by surgery or biopsy were retrospectively analyzed. RESULTS:(1) CT findings: One case of serohepatic type of hepatic tuberculosis had multip...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v10.i11.1639

    authors: Yu RS,Zhang SZ,Wu JJ,Li RF

    更新日期:2004-06-01 00:00:00

  • Comparison of two different laparotomy methods for modeling rabbit VX2 hepatocarcinoma.

    abstract:AIM:To compare two different laparotomy methods for modeling rabbit VX2 hepatocarcinoma. METHODS:Thirty New Zealand rabbits were randomly divided into two groups: A and B. Group A was assigned a traditional laparotomy method (embedding tumor fragments directly into the liver with tweezers). Group B was subjected to an...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v21.i16.4875

    authors: Chen Z,Kang Z,Xiao EH,Tong M,Xiao YD,Li HB

    更新日期:2015-04-28 00:00:00

  • Phase I study of postoperative radiotherapy combined with capecitabine for gastric cancer.

    abstract:AIM:To determine the maximum tolerated dose (MTD) and dose-limiting toxicity (DLT) of capecitabine combined with postoperative radiotherapy for gastric cancer. METHODS:We enrolled patients with any T stage and node-positive gastroesophageal or gastric adenocarcinoma after complete resection with negative margins (R0) ...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v20.i4.1067

    authors: Wang X,Jin J,Li YX,Ren H,Fang H,Wang SL,Liu YP,Wang WH,Yu ZH,Song YW,Liu XF

    更新日期:2014-01-28 00:00:00

  • Technical skills and training of upper gastrointestinal endoscopy for new beginners.

    abstract::The incidence of gastric cancer remains high in South Korea. Upper gastrointestinal (GI) endoscopy, i.e., esophagogastroduodenoscopy (EGD), has a higher diagnostic specificity and sensitivity than the upper GI series. Additionally, EGD has the ability to biopsy, through taking a tissue of the pathologic lesion. Succes...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,评审

    doi:10.3748/wjg.v21.i3.759

    authors: Lee SH,Park YK,Cho SM,Kang JK,Lee DJ

    更新日期:2015-01-21 00:00:00

  • Extraintestinal manifestations of Helicobacter pylori: a concise review.

    abstract::Helicobacter pylori (H. pylori) infection has been clearly linked to peptic ulcer disease and some gastrointestinal malignancies. Increasing evidence demonstrates possible associations to disease states in other organ systems, known as the extraintestinal manifestations of H. pylori. Different conditions associated wi...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,评审

    doi:10.3748/wjg.v20.i34.11950

    authors: Wong F,Rayner-Hartley E,Byrne MF

    更新日期:2014-09-14 00:00:00

  • Spot urinary sodium for assessing dietary sodium restriction in cirrhotic ascites.

    abstract:AIM:To evaluate the accuracy of spot urinary Na/K and Na/creatinine (Cr) ratios as an alternative to 24-h urinary sodium in monitoring dietary compliance in patients with liver cirrhosis and ascites treated with diuretics. METHODS:The study was carried on 40 patients with liver cirrhosis and ascites treated with diure...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.15.3631

    authors: El-Bokl MA,Senousy BE,El-Karmouty KZ,Mohammed Iel K,Mohammed SM,Shabana SS,Shalaby H

    更新日期:2009-08-07 00:00:00

  • Laparoscopic liver resections for hepatocellular carcinoma: current role and limitations.

    abstract::Liver resection for hepatocellular carcinoma (HCC) is currently known to be a safer procedure than it was before because of technical advances and improvement in postoperative patient management and remains the first-line treatment for HCC in compensated cirrhosis. The aim of this review is to assess current indicatio...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,评审

    doi:10.3748/wjg.v20.i17.4892

    authors: Gaillard M,Tranchart H,Dagher I

    更新日期:2014-05-07 00:00:00

  • Subtotal colonic bypass plus colostomy with antiperistaltic cecoproctostomy for the treatment of slow transit constipation in an aged population: A retrospective control study.

    abstract:AIM:To compare the efficacy, improved quality of life, and prognosis in patients undergoing either subtotal colonic bypass with antiperistaltic cecoproctostomy (SCBAC) or subtotal colonic bypass plus colostomy with antiperistaltic cecoproctostomy (SCBCAC) for the treatment of slow transit constipation. METHODS:Between...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v24.i23.2491

    authors: Yang Y,Cao YL,Wang WH,Zhang YY,Zhao N,Wei D

    更新日期:2018-06-21 00:00:00

  • Short-term celecoxib intervention is a safe and effective chemopreventive for gastric carcinogenesis based on a Mongolian gerbil model.

    abstract:AIM:To evaluate the optimal intervention point of a selective cyclooxygenase-2 (COX-2) inhibitor, celecoxib, for inhibiting Helicobacter pylori (H. pylori)-associated gastric carcinogenesis in Mongolian gerbils (MGs). METHODS:One hundred and twelve MGs were divided into six groups (A-F). One hundred gerbils were inocu...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.15.4907

    authors: Kuo CH,Hu HM,Tsai PY,Wu IC,Yang SF,Chang LL,Wang JY,Jan CM,Wang WM,Wu DC

    更新日期:2009-10-21 00:00:00

  • Prospective randomized controlled trial investigating the type of sutures used during hepatectomy.

    abstract:AIM:To determine whether absorbable sutures or non-absorbable sutures are better in preventing surgical site infection (SSI), in this paper we discuss the results of a randomized clinical trial which examined the type of sutures used during hepatectomy. METHODS:All hepatic resections performed from January 2007 to Nov...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,随机对照试验

    doi:10.3748/wjg.v17.i18.2338

    authors: Harimoto N,Shirabe K,Abe T,Yukaya T,Tsujita E,Gion T,Kajiyama K,Nagaie T

    更新日期:2011-05-14 00:00:00

  • Liuweiwuling tablets attenuate acetaminophen-induced acute liver injury and promote liver regeneration in mice.

    abstract:AIM:To explore the mechanism of protection against acetaminophen-induced acute liver injury by Liuweiwuling tablets. METHODS:Intraperitoneal injections of acetaminophen (250 mg/kg) were used to induce acute liver injury in male C57BL/6 mice. A total of 24 healthy mice were randomly assigned to two groups: an acute liv...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v21.i26.8089

    authors: Lei YC,Li W,Luo P

    更新日期:2015-07-14 00:00:00

  • Combined small bowel and reduced auxiliary liver transplantation: case report.

    abstract:AIM:To present a case of combined small bowel and reduced auxiliary liver transplantation. METHODS:A 55-year-old patient with short bowel syndrome and TPN-related liver dysfunction received small bowel transplantation combined with a reduced auxiliary liver graft. A liver was added to restore the patient's liver funct...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v8.i5.956

    authors: Zhang WJ,Liu DG,Ye QF,Sha B,Zhen FJ,Guo H,Xia SS

    更新日期:2002-10-01 00:00:00

  • Risk factors associated with inflammatory bowel disease: A multicenter case-control study in Brazil.

    abstract:BACKGROUND:The etiology of inflammatory bowel disease (IBD) is unknown, but it is believed to be multifactorial. The hygiene hypothesis proposes that better hygiene conditions would lead to less infectious disease during childhood and favor the development of immune-mediated diseases. AIM:To test the hygiene hypothesi...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v26.i25.3611

    authors: Salgado VCL,Luiz RR,Boéchat NLF,Leão IS,Schorr BDC,Parente JML,Lima DC,Silveira Júnior ES,Silva GOS,Almeida NP,Vieira A,de Bueno MLQ,Chebli JM,Bertges ÉR,Brugnara LMDC,Junqueira Neto C,Campbell SBG,Discacciati LL,Céza

    更新日期:2020-07-07 00:00:00

  • Serum sIL-2R, TNF-alpha and IFN-gamma in alveolar echinococcosis.

    abstract:AIM:to approach the relationship between alveolar echinococcosis (AE) pathology and level of sIL-2R,TNF-alpha and IFN-gamma in sera and the significance of cytokines in development of AE. METHODS:After 23 patients with AE were confirmed by ELISA and ultrasound, their sera were collected and the concentrations of sIL-2...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v10.i24.3674

    authors: Shi DZ,Li FR,Bartholomot B,Vuitton DA,Craig PS

    更新日期:2004-12-15 00:00:00

  • Aberrant EphB/ephrin-B expression in experimental gastric lesions and tumor cells.

    abstract:AIM:To determine whether the expression profiles of EphB receptor and ephrin-B ligand can be used as markers for dysplastic/oncogenic transformation in gastric mucosa. METHODS:The protein expression and localization of EphB and ephrin-B in normal, ulcerated regenerating, and dysplastic gastric mucosa were examined in ...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v21.i2.453

    authors: Uchiyama S,Saeki N,Ogawa K

    更新日期:2015-01-14 00:00:00

  • Calcium-sensing receptor: A new target for therapy of diarrhea.

    abstract::Management of acute diarrhea remains a global challenge, particularly in resource-limiting countries. Oral rehydration solution (ORS), a passive rehydrating therapy developed approximately 40 years ago, remains the mainstay treatment. Although ORS is effective for hydration, since it does not inhibit enterotoxin-media...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,评审

    doi:10.3748/wjg.v22.i9.2711

    authors: Cheng SX

    更新日期:2016-03-07 00:00:00

  • Effect of Jianweiyuyang granule on gastric ulcer recurrence and expression of VEGF mRNA in the healing process of gastric ulcer in rats.

    abstract:AIM:To investigate the effect of Jianweiyuyang (JWYY) granule on gastric ulcer recurrence and its mechanism in the treatment of gastric ulcer in rats. METHODS:Gastric ulcer in rats was induced according to Okeba's method with minor modification and the recurrence model was induced by IL-1beta. The expression of vascul...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v11.i35.5480

    authors: Dai XP,Li JB,Liu ZQ,Ding X,Huang CH,Zhou B

    更新日期:2005-09-21 00:00:00

  • Liuweiwuling tablets protect against acetaminophen hepatotoxicity: What is the protective mechanism?

    abstract::Study of the effects of natural products, including traditional Chinese Medicines, on acetaminophen hepatotoxicity has gained considerable popularity in recent years, and some of them showed positive results and even promising therapeutic potentials. A recent report suggested that Liuweiwuling tablets protect against ...

    journal_title:World journal of gastroenterology

    pub_type: 评论,信件

    doi:10.3748/wjg.v22.i11.3302

    authors: Du K,Jaeschke H

    更新日期:2016-03-21 00:00:00

  • Effectiveness of contrast-enhanced harmonic endoscopic ultrasound for the evaluation of solid pancreatic masses.

    abstract:AIM:To evaluate the usefulness of contrast-enhanced harmonic endoscopic ultrasound (CH-EUS) in differentiating between pancreatic adenocarcinomas and other pancreatic disease. METHODS:This retrospective cohort study evaluated 90 patients who were seen between November 2010 and May 2013. All these patients had solid pa...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v20.i2.518

    authors: Park JS,Kim HK,Bang BW,Kim SG,Jeong S,Lee DH

    更新日期:2014-01-14 00:00:00

  • Effects of autoantibodies against beta(1)-adrenoceptor in hepatitis virus myocarditis on action potential and L-type Ca(2+) currents.

    abstract:AIM:To investigate the effects of autoantibodies against beta(1)-adrenoceptor in hepatitis virus myocarditis on action potential and L-type Ca(2+) currents. METHODS:Fifteen samples of autoantibodies against beta(1)-adrenoceptor positive sera of patients with hepatitis virus myocarditis were obtained and IgGs were puri...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v10.i8.1171

    authors: Liu K,Liao YH,Wang ZH,Li SL,Wang M,Zeng LL,Tang M

    更新日期:2004-04-15 00:00:00

  • Significance of expression of heat shock protein90alpha in human gastric cancer.

    abstract:AIM:To evaluate the significance of hsp90alpha expression in human gastric cancer tissues. METHODS:Immunohistochemical staining was used in clinical specimens from 33 cases of gastric cancer and 33 cases of gastritis with rabbit anti-human hsp90alpha multi-clonal antibody in order to explore the relationship between t...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章

    doi:10.3748/wjg.v9.i11.2616

    authors: Zuo DS,Dai J,Bo AH,Fan J,Xiao XY

    更新日期:2003-11-01 00:00:00

  • Molecular basis of the potential of mesalazine to prevent colorectal cancer.

    abstract::Patients with ulcerative colitis (UC) and Crohn's disease (CD) are at increased risk for developing colorectal cancer (CRC), and this is believed to be a result of chronic inflammation. Although conclusive evidence is still missing, both epidemiological and experimental observations suggest that certain drugs used to ...

    journal_title:World journal of gastroenterology

    pub_type: 社论,评审

    doi:10.3748/wjg.14.4434

    authors: Stolfi C,Pellegrini R,Franze E,Pallone F,Monteleone G

    更新日期:2008-07-28 00:00:00

  • Antiviral therapy and resistance with hepatitis B virus infection.

    abstract::Hepatitis B virus (HBV) infection is still the most common cause of hepatocellular carcinoma and liver cirrhosis world wide. Recently, however, there has been quite dramatic improvement in the understanding of HBV associated liver disease and its treatment. It has become clear that high viral replication is a major ri...

    journal_title:World journal of gastroenterology

    pub_type: 杂志文章,评审

    doi:10.3748/wjg.v13.i1.125

    authors: Tillmann HL

    更新日期:2007-01-07 00:00:00