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Gastrointestinal Cancers

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Cancer Genetics and Psychotherapy

Abstract

Gastrointestinal cancers (GI) are an important category of cancers. This chapter reviews the updates on different aspects of GI cancers including pathophysiology, classification, genetics, genotype-phenotype correlations, screening, surveillance, genetic counseling, testing strategies, management and individualized medicine of esophageal cancers (squamous cell carcinoma and adenocarcinoma), gastric cancer (intestinal and diffuse subtypes), and colorectal cancers (CRCs) (with focus on Lynch syndrome and adenomatous polyposis colon cancer which are two common hereditary form of CRCs). Our current understanding of different aspects of GI cancers and future directions especially in the issues of genetic profiling and targeted therapies in GI cancers are tried to be address in this chapter.

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Abbreviations

AAPC:

Attenuated adenomatous polyposis coli

ACG:

American College of Gastroenterology

ACP:

American College of Physicians

ACS:

American Cancer Society

AGA:

American Gastroenterological Association

ASCO:

American Society of Clinical Oncology

ASGE:

American Society for Gastrointestinal Endoscopy

AMPK:

AMP-activated protein kinase

APC:

Adenomatous polyposis coli

cfDNA:

Cell-free nucleic acid

CHRP:

Congenital hypertrophy of retinal pigment epithelium

CK:

Cytokeratin

CNV:

Copy number variations

CRC:

Colorectal cancer

CT:

Computed tomography

CTC:

Circulating tumor cell

DGC:

Diffuse gastric cancer

EBV:

Epstein–Barr virus positive

EC:

Esophageal cancer

EpCAM:

Epithelial cell adhesion

ESCC:

Esophageal squamous cell carcinoma

FAP:

Familial adenomatous polyposis

FDA:

Food and Drug Administration

GC:

Gastric cancer

GERD:

Gastroesophageal reflux disease

GI:

Gastrointestinal cancers

HDGC:

Hereditary diffuse gastric cancer

HPV:

Human papillomavirus

IGC:

Intestinal gastric cancer

IHC:

Immunohistochemistry

IPAA:

Proctocolectomy with ileal pouch–anal anastomosis

IRA:

Ileorectal anastomosis

MMR:

Mismatch repair

MRI:

Magnetic resonance imaging

MSI:

Microsatellite instability

MSS:

Microsatellite stable

NCI:

National Cancer Institute

NCCN:

National Comprehensive Cancer Network

NGS:

Next-generation sequencing

PCR:

Polymerase chain reaction

piRNA:

Piwi-interacting RNA

RFA:

Radiofrequency ablation

RFLP:

Restriction fragment length polymorphism

SCC:

Squamous cell carcinoma

TERT:

Telomerase reverse transcriptase

References

  • Abdelfatah E, Kerner Z, Nanda N, Ahuja N (2016) Epigenetic therapy in gastrointestinal cancer: the right combination. Therap Adv Gastroenterol 9:560–579. doi:10.1177/1756283X16644247

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ajani JA, Barthel JS, Bekaii-Saab T, Bentrem DJ, D’Amico TA, Das P et al (2010) Gastric cancer. J Natl Compr Cancer Netw JNCCN 8:378–409

    Article  CAS  PubMed  Google Scholar 

  • Ajani JA, Bentrem DJ, Besh S, D’Amico TA, Das P, Denlinger C et al (2013) Gastric cancer, version 2.2013: featured updates to the NCCN guidelines. J Natl Compr Cancer Netw JNCCN 11:531–546

    Article  CAS  PubMed  Google Scholar 

  • Akbari MR, Malekzadeh R, Nasrollahzadeh D, Amanian D, Islami F, Li S et al (2008) Germline BRCA2 mutations and the risk of esophageal squamous cell carcinoma. Oncogene 27:1290–1296. doi:10.1038/sj.onc.1210739

    Article  CAS  PubMed  Google Scholar 

  • Al-Batran SE, Van Cutsem E, Oh SC, Bodoky G, Shimada Y, Hironaka S et al (2016) Quality-of-life and performance status results from the phase III RAINBOW study of ramucirumab plus paclitaxel versus placebo plus paclitaxel in patients with previously treated gastric or gastroesophageal junction adenocarcinoma. Ann Oncol 27:673–679. doi:10.1093/annonc/mdv625

    Article  PubMed  PubMed Central  Google Scholar 

  • Al-Hajeili M, Shields AF, Hwang JJ, Wadlow RC, Marshall JL (2017) Molecular testing to optimize and personalize decision making in the management of colorectal cancer. Oncology (Williston Park) 31:301–312

    Google Scholar 

  • Alix-Panabières C, Pantel K (2013) Circulating tumor cells: liquid biopsy of cancer. Clin Chem 59:110–118

    Article  PubMed  CAS  Google Scholar 

  • Asl JM, Almasi S, Tabatabaiefar MA (2014) High frequency of BRAF proto-oncogene hot spot mutation V600E in cohort of colorectal cancer patients from Ahvaz City, southwest Iran. Pak J Biol Sci 17:565–569

    Article  PubMed  Google Scholar 

  • Azadegan-Dehkordi F, Bagheri N, Shirzad M, Sanei MH, Hashemzadeh-Chaleshtori M, Rafieian-Kopaei M, et al (2015) Correlation between mucosal IL-6 mRNA expression level and virulence factors of helicobacter pylori in Iranian adult patients with chronic gastritis. Jundishapur J Microbiol 8:e21701. doi:10.5812/jjm.21701. eCollection 2015 Aug

  • Bang Y-J (2013) A randomized, open-label, phase III study of lapatinib in combination with weekly paclitaxel versus weekly paclitaxel alone in the second-line treatment of HER2 amplified advanced gastric cancer (AGC) in Asian population: tytan study. American Society of Clinical Oncology

    Google Scholar 

  • Barber M, Murrell A, Ito Y, Maia AT, Hyland S, Oliveira C et al (2008a) Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer. J Pathol 216:295–306

    Article  CAS  PubMed  Google Scholar 

  • Barber M, Save V, Carneiro F, Dwerryhouse S, Lao-Sirieix P, Hardwick R et al (2008b) Histopathological and molecular analysis of gastrectomy specimens from hereditary diffuse gastric cancer patients has implications for endoscopic surveillance of individuals at risk. J Pathol 216:286–294

    Article  CAS  PubMed  Google Scholar 

  • Beasley P (1997) Anatomy of the pharynx and esophagus. In: Kerr AG, Gleeson M (eds) Scott-Brown’s Otolaryngology, 6th edn. Butterworth-Heinemann, Oxford, UK

    Google Scholar 

  • Bellizzi AM, Frankel WL (2009) Colorectal cancer due to deficiency in DNA mismatch repair function: a review. Adv Anat Pathol 16:405–417. doi:10.1097/PAP.0b013e3181bb6bdc

    Article  CAS  PubMed  Google Scholar 

  • Benson AB III, Bekaii-Saab T, Chan E, Chen YJ, Choti MA, Cooper HS, et al (2013) Metastatic colon cancer, version 3.2013: featured updates to the NCCN guidelines. J Natl Compr Cancer Netw JNCCN 11:141–152 (quiz 152)

    Google Scholar 

  • Bokemeyer C, Kohne C, Rougier P, Stroh C, Schlichting M, Van Cutsem E (2010) Cetuximab with chemotherapy (CT) as first-line treatment for metastatic colorectal cancer (mCRC): analysis of the CRYSTAL and OPUS studies according to KRAS and BRAF mutation status. J Clin Oncol 28:3506–3506

    Google Scholar 

  • Boland CR, Goel A (2010) Microsatellite instability in colorectal cancer. Gastroenterology 138(2073–2087):e2073

    Article  CAS  Google Scholar 

  • Bonadona V, Bonaïti B, Olschwang S, Grandjouan S, Huiart L, Longy M et al (2011) Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in lynch syndrome. JAMA 305:2304–2310

    Article  CAS  PubMed  Google Scholar 

  • Brychtova V, Sefr R, Hrstka R, Videnska P, Bencsikova B, Hanakova B et al (2017) Molecular pathology of colorectal cancer, microsatellite instability—the detection, the relationship to the pathophysiology and prognosis. Klin Onkol 30:153–155

    CAS  PubMed  Google Scholar 

  • Cancer Genome Atlas Research N, Analysis Working Group: Asan U, Agency BCC, Brigham, Women’s H, Broad I, et al (2017) Integrated genomic characterization of oesophageal carcinoma. Nature 541:169–175. doi:10.1038/nature20805

  • Canedo P, Corso G, Pereira F, Lunet N, Suriano G, Figueiredo C et al (2008) The interferon gamma receptor 1 (IFNGR1)-56C/T gene polymorphism is associated with increased risk of early gastric carcinoma. Gut 57:1504–1508. doi:10.1136/gut.2007.143578

    Article  CAS  PubMed  Google Scholar 

  • Carneiro F, Oliveira C, Suriano G, Seruca R (2008) Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer. J Clin Pathol 61:25–30

    Article  CAS  PubMed  Google Scholar 

  • Carneiro P, Fernandes MS, Figueiredo J, Caldeira J, Carvalho J, Pinheiro H et al (2012) E-cadherin dysfunction in gastric cancer–cellular consequences, clinical applications and open questions. FEBS Lett 586:2981–2989. doi:10.1016/j.febslet.2012.07.045

    Article  CAS  PubMed  Google Scholar 

  • Cheng C, Zhou Y, Li H, Xiong T, Li S, Bi Y et al (2016) Whole-genome sequencing reveals diverse models of structural variations in esophageal squamous cell carcinoma. Am J Hum Genet 98:256–274. doi:10.1016/j.ajhg.2015.12.013

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Cho JY (2013) Molecular diagnosis for personalized target therapy in gastric cancer. J gastric cancer 13:129–135

    Article  PubMed  PubMed Central  Google Scholar 

  • Claerhout S, Lim JY, Choi W, Park Y-Y, Kim K, Kim S-B et al (2011) Gene expression signature analysis identifies vorinostat as a candidate therapy for gastric cancer. PLoS ONE 6:e24662

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Correa P, Fontham ET, Bravo JC, Bravo LE, Ruiz B, Zarama G et al (2000) Chemoprevention of gastric dysplasia: randomized trial of antioxidant supplements and anti-helicobacter pylori therapy. J Natl Cancer Inst 92:1881–1888

    Article  CAS  PubMed  Google Scholar 

  • Crew KD, Neugut AI (2006) Epidemiology of gastric cancer. World J Gastroenterol 12:354–362

    Article  PubMed  PubMed Central  Google Scholar 

  • Cristescu R, Lee J, Nebozhyn M, Kim K-M, Ting JC, Wong SS et al (2015) Molecular analysis of gastric cancer identifies subtypes associated with distinct clinical outcomes. Nat Med 21:449–456

    Article  CAS  PubMed  Google Scholar 

  • Davis PA, Sano T (2001) The difference in gastric cancer between Japan, USA and Europe: what are the facts? What are the suggestions? Crit Rev oncol/hematol 40:77–94

    Article  CAS  Google Scholar 

  • De Keulenaer S, Hellemans J, Lefever S, Renard JP, De Schrijver J, Van de Voorde H et al (2012) Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform. BMC Med Genomics 5:17. doi:10.1186/1755-8794-5-17

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Donner I, Katainen R, Tanskanen T, Kaasinen E, Aavikko M, Ovaska K et al (2017) Candidate susceptibility variants for esophageal squamous cell carcinoma. Genes Chromosom Cancer 56:453–459. doi:10.1002/gcc.22448

    Article  CAS  PubMed  Google Scholar 

  • Douillard J-Y, Oliner KS, Siena S, Tabernero J, Burkes R, Barugel M et al (2013) Panitumumab–FOLFOX4 treatment and RAS mutations in colorectal cancer. N Engl J Med 369:1023–1034

    Article  CAS  PubMed  Google Scholar 

  • Dulak AM, Stojanov P, Peng S, Lawrence MS, Fox C, Stewart C et al (2013) Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity. Nat Genet 45:478–486. doi:10.1038/ng.2591

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ekström AM, Serafini M, Nyrén O, Hansson LE, Ye W, Wolk A (2000) Dietary antioxidant intake and the risk of cardia cancer and noncardia cancer of the intestinal and diffuse types: a population-based case-control study in Sweden. Int J Cancer 87:133–140

    Article  PubMed  Google Scholar 

  • Farran B, Muller S, Montenegro RC (2017) Gastric cancer management: kinases as a target therapy. Clin Exp Pharmacol Physiol. doi:10.1111/1440-1681.12743

    PubMed  Google Scholar 

  • Fc DAS, Wernhoff P, Dominguez-Barrera C, Dominguez-Valentin M (2016) Update on hereditary colorectal cancer. Anticancer Res 36:4399–4405. doi:10.21873/anticanres.10983

    Article  Google Scholar 

  • Figueiredo J, Söderberg O, Simoes-Correia J, Grannas K, Suriano G, Seruca R (2013) The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC. Eur J Hum Genet 21:301–309

    Article  CAS  PubMed  Google Scholar 

  • Fitzgerald R, Caldas C (2004) Clinical implications of E-cadherin associated hereditary diffuse gastric cancer. Gut 53:775–778

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Guilford P, Blair V et al (2010) Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 47:436–444

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Fontanges Q, De Mendonca R, Salmon I, Le Mercier M, D’Haene N (2016) Clinical application of targeted next generation sequencing for colorectal cancers. Int J Mol Sci 17. doi:10.3390/ijms17122117

  • Frei JV (1992) Hereditary nonpolyposis colorectal cancer (Lynch syndrome II). Diploid malignancies with prolonged survival. Cancer 69:1108–1111

    Article  CAS  PubMed  Google Scholar 

  • Galiatsatos P, Foulkes WD (2006) Familial adenomatous polyposis. Am J Gastroenterol 101:385–398. doi:10.1111/j.1572-0241.2006.00375.x

    Article  PubMed  Google Scholar 

  • Gaston D, Hansford S, Oliveira C, Nightingale M, Pinheiro H, Macgillivray C et al (2014) Germline mutations in MAP3K6 are associated with familial gastric cancer. PLoS Genet 10:e1004669. doi:10.1371/journal.pgen.1004669

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Gholipour M, Islami F, Roshandel G, Khoshnia M, Badakhshan A, Moradi A et al (2016) Esophageal cancer in Golestan Province, Iran: a review of genetic susceptibility and environmental risk factors. Middle East J Dig Dis 8:249–266. doi:10.15171/mejdd.2016.34

    Article  PubMed  PubMed Central  Google Scholar 

  • Giráldez MD, Balaguer F, Bujanda L, Cuatrecasas M, Muñoz J, Alonso-Espinaco V et al (2010) MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer. Clin Cancer Res 16:5402–5413

    Article  PubMed  PubMed Central  Google Scholar 

  • Gonzalez CA, Lopez-Carrillo L (2010) Helicobacter pylori, nutrition and smoking interactions: their impact in gastric carcinogenesis. Scand J Gastroenterol 45:6–14. doi:10.3109/00365520903401959

    Article  CAS  PubMed  Google Scholar 

  • Gottardi CJ, Wong E, Gumbiner BM (2001) E-cadherin suppresses cellular transformation by inhibiting β-catenin signaling in an adhesion-independent manner. J cell biol 153:1049–1060

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Grady WM, Markowitz SD (2015) The molecular pathogenesis of colorectal cancer and its potential application to colorectal cancer screening. Dig Dis Sci 60:762–772. doi:10.1007/s10620-014-3444-4

    Article  CAS  PubMed  Google Scholar 

  • Graham D, Lipman G, Sehgal V, Lovat LB (2016) Monitoring the premalignant potential of Barrett’s oesophagus’. Frontline Gastroenterol 7:316–322. doi:10.1136/flgastro-2016-100712

    Article  PubMed  PubMed Central  Google Scholar 

  • Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P et al (1998) E-cadherin germline mutations in familial gastric cancer. Nature 392:402–405. doi:10.1038/32918

    Article  CAS  PubMed  Google Scholar 

  • Guilford PJ, Hopkins JB, Grady WM, Markowitz SD, Willis J, Lynch H et al (1999) E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. Hum Mutat 14:249

    Article  CAS  PubMed  Google Scholar 

  • Half E, Bercovich D, Rozen P (2009) Familial adenomatous polyposis. Orphanet J Rare Dis 4:22. doi:10.1186/1750-1172-4-22

    Article  PubMed  PubMed Central  Google Scholar 

  • Hansford S, Kaurah P, Li-Chang H, Woo M, Senz J, Pinheiro H et al (2015) Hereditary diffuse gastric cancer syndrome: cdh1 mutations and beyond. JAMA Oncol 1:23–32. doi:10.1001/jamaoncol.2014.168

    Article  PubMed  Google Scholar 

  • Harriss DJ, Atkinson G, Batterham A, George K, Cable NT, Reilly T et al (2009) Lifestyle factors and colorectal cancer risk (2): a systematic review and meta-analysis of associations with leisure-time physical activity. Colorectal Dis 11:689–701. doi:10.1111/j.1463-1318.2009.01767.x

    Article  CAS  PubMed  Google Scholar 

  • Hegde M, Ferber M, Mao R, Samowitz W, Ganguly A, Working Group of the American College of Medical G, et al (2014) ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). Genet Med 16:101–116. doi:10.1038/gim.2013.166

  • Heitzer E, Auer M, Gasch C, Pichler M, Ulz P, Hoffmann EM et al (2013) Complex tumor genomes inferred from single circulating tumor cells by array-CGH and next-generation sequencing. Cancer Res 73:2965–2975. doi:10.1158/0008-5472.CAN-12-4140

    Article  CAS  PubMed  Google Scholar 

  • Henson DE, Dittus C, Younes M, Nguyen H, Albores-Saavedra J (2004) Differential trends in the intestinal and diffuse types of gastric carcinoma in the United States, 1973–2000: increase in the signet ring cell type. Arch Pathol Lab Med 128:765–770

    PubMed  Google Scholar 

  • Heppner Goss K, Trzepacz C, Tuohy TM, Groden J (2002) Attenuated APC alleles produce functional protein from internal translation initiation. Proc Natl Acad Sci USA 99:8161–8166. doi:10.1073/pnas.112072199

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Horvath B, Singh P, Xie H, Thota PN, Sun X, Liu X (2016) Expression of p53 predicts risk of prevalent and incident advanced neoplasia in patients with Barrett’s esophagus and epithelial changes indefinite for dysplasia. Gastroenterol Rep (Oxf) 4:304–309. doi:10.1093/gastro/gov045

    Article  Google Scholar 

  • Ilson DH, Kelsen D, Shah M, Schwartz G, Levine DA, Boyd J et al (2011) A phase 2 trial of erlotinib in patients with previously treated squamous cell and adenocarcinoma of the esophagus. Cancer 117:1409–1414. doi:10.1002/cncr.25602

    Article  CAS  PubMed  Google Scholar 

  • Jemal A, Bray F, Center MM, Ferlay J, Ward E, Forman D (2011) Global cancer statistics. CA Cancer J Clin 61:69–90

    Article  PubMed  Google Scholar 

  • Juhn E, Khachemoune A (2010) Gardner syndrome: skin manifestations, differential diagnosis and management. Am J Clin Dermatol 11:117–122. doi:10.2165/11311180-000000000-00000

    Article  PubMed  Google Scholar 

  • Kamangar F, Dawsey SM, Blaser MJ, Perez-Perez GI, Pietinen P, Newschaffer CJ et al (2006) Opposing risks of gastric cardia and noncardia gastric adenocarcinomas associated with Helicobacter pylori seropositivity. J Natl Cancer Inst 98:1445–1452. doi:10.1093/jnci/djj393

    Article  PubMed  Google Scholar 

  • Kamangar F, Chow WH, Abnet CC, Dawsey SM (2009) Environmental causes of esophageal cancer. Gastroenterol Clin North Am 38:27–57, vii. doi:10.1016/j.gtc.2009.01.004

  • Kao HW, Pan CY, Lai CH, Wu CW, Fang WL, Huang KH et al (2017) Urine miR-21-5p as a potential non-invasive biomarker for gastric cancer. Oncotarget. doi:10.18632/oncotarget.16916

    Google Scholar 

  • Kelsen D (2007) Gastrointestinal oncology: principles and practices, 2nd edn. Lippincott Williams & Wilkins, Philadelphia, Pa

    Google Scholar 

  • Kihara C, Seki T, Furukawa Y, Yamana H, Kimura Y, van Schaardenburgh P et al (2000) Mutations in zinc-binding domains of p53 as a prognostic marker of esophageal-cancer patients. Jpn J Cancer Res 91:190–198

    Article  CAS  PubMed  Google Scholar 

  • Kim YH, Liang H, Liu X, Lee J-S, Cho JY, Cheong J-H et al (2012) AMPKα modulation in cancer progression: multilayer integrative analysis of the whole transcriptome in Asian gastric cancer. Can Res 72:2512–2521

    Article  CAS  Google Scholar 

  • Kodish ED (1999) Testing children for cancer genes: the rule of earliest onset. J Pediatr 135:390–395

    Article  CAS  PubMed  Google Scholar 

  • Koppert LB, Wijnhoven BP, Van Dekken H, Tilanus HW, Dinjens WN (2005) The molecular biology of esophageal adenocarcinoma. J Surg Oncol 92:169–190

    Article  CAS  PubMed  Google Scholar 

  • Kubo A, Corley DA (2006) Body mass index and adenocarcinomas of the esophagus or gastric cardia: a systematic review and meta-analysis. Cancer Epidemiology and Prevention Biomarkers 15:872–878

    Article  Google Scholar 

  • Kuboki Y, Yamashita S, Niwa T, Ushijima T, Nagatsuma A, Kuwata T, et al (2015) Comprehensive analyses using next-generation sequencing and immunohistochemistry enable precise treatment in advanced gastric cancer. Ann Oncol: mdv508

    Google Scholar 

  • Ladabaum U, Wang G, Terdiman J, Blanco A, Kuppermann M, Boland CR et al (2011) Strategies to identify the lynch syndrome among patients with colorectal cancera cost-effectiveness analysis. Ann Intern Med 155:69–79

    Article  PubMed  PubMed Central  Google Scholar 

  • Lagergren J, Bergstrom R, Lindgren A, Nyren O (1999) Symptomatic gastroesophageal reflux as a risk factor for esophageal adenocarcinoma. N Engl J Med 340:825–831. doi:10.1056/NEJM199903183401101

    Article  CAS  PubMed  Google Scholar 

  • Lai I-R, Lee W-J, Huang M-T, Lin H-H (2001) Comparison of serum CA72-4, CEA, TPA, CA19-9 and CA125 levels in gastric cancer patients and correlation with recurrence. Hepatogastroenterology 49:1157–1160

    Google Scholar 

  • Lee IJ, Lee JM, Kim SH, Shin C-I, Lee JY, Kim SH et al (2010) Diagnostic performance of 64-channel multidetector CT in the evaluation of gastric cancer: differentiation of mucosal cancer (T1a) from submucosal involvement (T1b and T2) 1. Radiology 255:805–814

    Article  PubMed  Google Scholar 

  • Lennerz JK, Kwak EL, Ackerman A, Michael M, Fox SB, Bergethon K et al (2011) MET amplification identifies a small and aggressive subgroup of esophagogastric adenocarcinoma with evidence of responsiveness to crizotinib. J Clin Oncol 29:4803–4810

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Levin B, Lieberman DA, McFarland B, Smith RA, Brooks D, Andrews KS et al (2008) Screening and surveillance for the early detection of colorectal cancer and adenomatous polyps, 2008: a joint guideline from the American cancer society, the US multi-society task force on colorectal cancer, and the American College of Radiology. CA Cancer J Clin 58:130–160

    Article  PubMed  Google Scholar 

  • Levine MS, Yee J (2014) History, evolution, and current status of radiologic imaging tests for colorectal cancer screening. Radiology 273:S160–S180. doi:10.1148/radiol.14140531

    Article  PubMed  Google Scholar 

  • Lianos GD, Mangano A, Cho WC, Roukos DH (2015) From standard to new genome-based therapy of gastric cancer. Taylor & Francis

    Google Scholar 

  • Lindor NM, Rabe K, Petersen GM, Haile R, Casey G, Baron J et al (2005) Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA 293:1979–1985. doi:10.1001/jama.293.16.1979

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Liu X, Meltzer SJ (2017) Gastric cancer in the era of precision medicine. Cell Mol Gastroenterol Hepatol 3:348–358. doi:10.1016/j.jcmgh.2017.02.003

    Article  PubMed  PubMed Central  Google Scholar 

  • Liu X, Cheng Y, Sheng W, Lu H, Xu Y, Long Z et al (2010) Clinicopathologic features and prognostic factors in alpha-fetoprotein-producing gastric cancers: analysis of 104 cases. J Surg Oncol 102:249–255

    Article  PubMed  Google Scholar 

  • Lynch HT, Grady W, Suriano G, Huntsman D (2005) Gastric cancer: new genetic developments. J Surg Oncol 90:114–133; discussion 133. doi:10.1002/jso.20214

  • Machado J, Oliveira C, Carvalho R, Soares P, Berx G, Caldas C et al (2001) E-cadherin gene (CDH1) promoter methylation as the second hit in sporadic diffuse gastric carcinoma. Oncogene 20:1525

    Article  CAS  PubMed  Google Scholar 

  • Majewski IJ, Kluijt I, Cats A, Scerri TS, Jong D, Kluin RJ et al (2013) An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer. J Pathol 229:621–629

    Article  CAS  PubMed  Google Scholar 

  • Malik MA, Upadhyay R, Mittal RD, Zargar SA, Mittal B (2010) Association of xenobiotic metabolizing enzymes genetic polymorphisms with esophageal cancer in Kashmir Valley and influence of environmental factors. Nutr Cancer 62:734–742. doi:10.1080/01635581003605904

    Article  CAS  PubMed  Google Scholar 

  • Markman B, Atzori F, Perez-Garcia J, Tabernero J, Baselga J (2010) Status of PI3 K inhibition and biomarker development in cancer therapeutics. Ann Oncol 21:683–691

    Article  CAS  PubMed  Google Scholar 

  • Mathis KL, Pemberton JH (2015) New developments in colorectal surgery. Curr Opin Gastroenterol 31:62–68. doi:10.1097/MOG.0000000000000138

    Article  PubMed  Google Scholar 

  • McGuire S (2016) World Cancer Report 2014. Geneva, Switzerland: World Health Organization, International Agency for Research on Cancer, WHO Press, 2015. Adv Nutr 7:418–419. doi:10.3945/an.116.012211

    Article  PubMed  PubMed Central  Google Scholar 

  • Mehrabani D, Hosseini SV, Rezaianzadeh A, Amini M, Mehrabani G, Tarrahi MJ (2013) Prevalence of stomach cancer in Shiraz, Southern Iran. J Res Med Sci Off J Isfahan Univ Med Sci 18:335

    Google Scholar 

  • Mei Y, Clark D, Mao L (2013) Novel dimensions of piRNAs in cancer. Cancer Lett 336:46–52

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Mihmanli M, Dilege E, Demir U, Coskun H, Eroglu T, Uysalol MD (2003) The use of tumor markers as predictors of prognosis in gastric cancer. Hepatogastroenterology 51:1544–1547

    Google Scholar 

  • Mikhail S, Ciombor K, Noonan A, Wu C, Goldberg R, Zhao W et al (2015) Upfront molecular testing in patients with advanced gastro-esophageal cancer: Is it time yet? Oncotarget 6:22206–22213. doi:10.18632/oncotarget.4247

    Article  PubMed  PubMed Central  Google Scholar 

  • Mocellin S, Pasquali S (2015) Diagnostic accuracy of endoscopic ultrasonography (EUS) for the preoperative locoregional staging of primary gastric cancer. The Cochrane Library

    Google Scholar 

  • Moran C, Joyce M, McAnena O (2005) CDH1 associated gastric cancer: a report of a family and review of the literature. Eur J Surg Oncol (EJSO) 31:259–264

    Article  CAS  Google Scholar 

  • Moridnia A, Tabatabaiefar MA, Zeinalian M, Minakari M, Kheirollahi M (2017) CDH1 gene mutations and its association with diffuse gastric cancer. Int J Adv Biotechnol Res [in press]

    Google Scholar 

  • Mundade R, Imperiale TF, Prabhu L, Loehrer PJ, Lu T (2014) Genetic pathways, prevention, and treatment of sporadic colorectal cancer. Oncoscience 1:400–406. doi:10.18632/oncoscience.59

    Article  PubMed  PubMed Central  Google Scholar 

  • Munoz JC, Lambiase LR, Anand BS (2017) Hereditary Nonpolyposis Colorectal Cancer Clinical Presentation. Medscape & eMedicine

    Google Scholar 

  • Muro K, Chung HC, Shankaran V, Geva R, Catenacci D, Gupta S et al (2016) Pembrolizumab for patients with PD-L1-positive advanced gastric cancer (KEYNOTE-012): a multicentre, open-label, phase 1b trial. Lancet Oncol 17:717–726. doi:10.1016/S1470-2045(16)00175-3

    Article  CAS  PubMed  Google Scholar 

  • Nagase H, Miyoshi Y, Horii A, Aoki T, Ogawa M, Utsunomiya J et al (1992a) Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res 52:4055–4057

    CAS  PubMed  Google Scholar 

  • Nagase H, Miyoshi Y, Horii A, Aoki T, Petersen GM, Vogelstein B et al (1992b) Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. Hum Mutat 1:467–473. doi:10.1002/humu.1380010603

    Article  CAS  PubMed  Google Scholar 

  • Network CGAR (2014) Comprehensive molecular characterization of gastric adenocarcinoma. Nature 513:202–209

    Article  CAS  Google Scholar 

  • Norton JA, Ham CM, Van Dam J, Jeffrey RB, Longacre TA, Huntsman DG et al (2007) CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. Ann Surg 245:873–879

    Article  PubMed  PubMed Central  Google Scholar 

  • Ohhara Y, Fukuda N, Takeuchi S, Honma R, Shimizu Y, Kinoshita I et al (2016) Role of targeted therapy in metastatic colorectal cancer. World J Gastrointest Oncol 8:642–655. doi:10.4251/wjgo.v8.i9.642

    Article  PubMed  PubMed Central  Google Scholar 

  • Oliveira C, Senz J, Kaurah P, Pinheiro H, Sanges R, Haegert A et al (2009a) Germline CDH1 deletions in hereditary diffuse gastric cancer families. Hum Mol Genet 18:1545–1555

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Oliveira C, Sousa S, Pinheiro H, Karam R, Bordeira-Carriço R, Senz J et al (2009b) Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression. Gastroenterology 136:2137–2148

    Article  CAS  PubMed  Google Scholar 

  • Oliveira C, Pinheiro H, Figueiredo J, Seruca R, Carneiro F (2013) E-cadherin alterations in hereditary disorders with emphasis on hereditary diffuse gastric cancer. Prog Mol Biol Transl Sci 116:337–359

    Article  CAS  PubMed  Google Scholar 

  • Pagon R, Adam M, Ardinger H, Wallace S, Amemiya A, Bean L, et al (2014) Hereditary Diffuse Gastric Cancer–GeneReviews (®)

    Google Scholar 

  • Palli D, Galli M, Caporaso NE, Cipriani F, Decarli A, Saieva C et al (1994) Family history and risk of stomach cancer in Italy. Cancer Epidemology-Biomarkers and Prevention 3:15–18

    CAS  Google Scholar 

  • Park J, Shin S, Yoo HM, Lee SW, Kim JG (2017) Evaluation of the three customized MSI panels to improve the detection of microsatellite instability in gastric cancer. Clin Lab 63:705–716. doi:10.7754/Clin.Lab.2016.161029

    PubMed  Google Scholar 

  • Pedrazzani C, Corso G, Marrelli D, Roviello F (2007) E-cadherin and hereditary diffuse gastric cancer. Surgery 142:645–657

    Article  PubMed  Google Scholar 

  • Perri F, Cotugno R, Piepoli A, Merla A, Quitadamo M, Gentile A et al (2007) Aberrant DNA methylation in non-neoplastic gastric mucosa of H. Pylori infected patients and effect of eradication. Am J Gastroenterol 102:1361–1371. doi:10.1111/j.1572-0241.2007.01284.x

    Article  CAS  PubMed  Google Scholar 

  • Petrelli F, Borgonovo K, Cabiddu M, Ghilardi M, Barni S (2011) Cetuximab and panitumumab in KRAS wild-type colorectal cancer: a meta-analysis. Int J Colorectal Dis 26:823–833. doi:10.1007/s00384-011-1149-0

    Article  PubMed  Google Scholar 

  • Pinheiro H, Oliveira C, Seruca R, Carneiro F (2014) Hereditary diffuse gastric cancer–Pathophysiology and clinical management. Best Pract Res Clin Gastroenterol 28:1055–1068

    Article  PubMed  Google Scholar 

  • Power DG, Schattner MA, Gerdes H, Brenner B, Markowitz AJ, Capanu M et al (2009) Endoscopic ultrasound can improve the selection for laparoscopy in patients with localized gastric cancer. J Am Coll Surg 208:173–178

    Article  PubMed  Google Scholar 

  • Prins MJ, Ruurda JP, van Diest PJ, van Hillegersberg R, ten Kate FJ (2013) The significance of the HER-2 status in esophageal adenocarcinoma for survival: an immunohistochemical and an in situ hybridization study. Ann Oncol 24:1290–1297

    Article  CAS  PubMed  Google Scholar 

  • Qin HD, Liao XY, Chen YB, Huang SY, Xue WQ, Li FF et al (2016) Genomic characterization of esophageal squamous cell carcinoma reveals critical genes underlying tumorigenesis and poor prognosis. Am J Hum Genet 98:709–727. doi:10.1016/j.ajhg.2016.02.021

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ramaglia L, Morgese F, Filippella M, Colao A (2007) Oral and maxillofacial manifestations of gardner’s syndrome associated with growth hormone deficiency: case report and literature review. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 103:e30–e34. doi:10.1016/j.tripleo.2007.01.013

    Article  PubMed  Google Scholar 

  • Rau TT, Dawson H, Hartmann A, Ruschoff J (2017) Hereditary colorectal cancer: an update on genetics and entities in terms of differential diagnosis. Pathologe. doi:10.1007/s00292-017-0294-9

    PubMed  Google Scholar 

  • Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Srivastava S, Jass JR et al (1997) A national cancer institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89:1758–1762

    Article  CAS  PubMed  Google Scholar 

  • Roosendaal R, Kuipers EJ, Buitenwerf J, van Uffelen C, Meuwissen SG, van Kamp GJ et al (1997) Helicobacter pylori and the birth cohort effect: evidence of a continuous decrease of infection rates in childhood. Am J Gastroenterol 92:1480–1482

    CAS  PubMed  Google Scholar 

  • Rugge M, Fassan M, Graham DY (2015) Epidemiology of gastric cancer. In: Gastric cancer. Springer, p 23–34

    Google Scholar 

  • Saemi N, Khoshnevis J, Akbari ME, Meysamie A, Korourian A, Gholizadeh B et al (2016) Evaluating the correlation between the survival rate of patients with esophageal squamous cell carcinoma and expression of p53 and Cyclin D1 biomarkers along with other prognostic factors. J Gastrointest Cancer. doi:10.1007/s12029-016-9905-6

    PubMed  Google Scholar 

  • Saffari-Chaleshtori, Tabatabaiefar MA, Ghasemi-Dehkordi P, Farrokhi E, Moradi MT, Hashemzadeh-Chaleshtori M (2017) The lack of correlation between TP53 mutations and gastric cancer: a report from a province of Iran. Genetika 49:235–246. doi:https://doi.org/10.2298/GENSR1701235S

  • Sakamoto H, Yoshimura K, Saeki N, Katai H, Shimoda T, Matsuno Y et al (2008) Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer. Nat Genet 40:730–740

    Article  CAS  PubMed  Google Scholar 

  • Schrauwen I, Helfmann S, Inagaki A, Predoehl F, Tabatabaiefar MA, Picher MM et al (2012) A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. Am J Hum Genet 91:636–645. doi:10.1016/j.ajhg.2012.08.018

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Schulmann K, Pox C, Tannapfel A, Schmiegel W (2007) The patient with multiple intestinal polyps. Best Pract Res Clin Gastroenterol 21:409–426. doi:10.1016/j.bpg.2006.11.003

    Article  PubMed  Google Scholar 

  • Scott RJ, McPhillips M, Meldrum CJ, Fitzgerald PE, Adams K, Spigelman AD et al (2001) Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds. Am J Hum Genet 68:118–127

    Article  CAS  PubMed  Google Scholar 

  • Sereno M, Merino M, Lopez-Gomez M, Gomez-Raposo C, Zambrana Tebar F, Moreno Rubio J et al (2014) MYH polyposis syndrome: clinical findings, genetics issues and management. Clin Transl Oncol 16:675–679. doi:10.1007/s12094-014-1171-0

    Article  CAS  PubMed  Google Scholar 

  • Shah MA, Salo-Mullen E, Stadler Z, Ruggeri JM, Mirander M, Pristyazhnyuk Y et al (2012) De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer. Clin Genet 82:283–287. doi:10.1111/j.1399-0004.2011.01744.x

    Article  CAS  PubMed  Google Scholar 

  • Shaheen NJ, Weinberg DS, Denberg TD, Chou R, Qaseem A, Shekelle P (2012) Upper endoscopy for gastroesophageal reflux disease: best practice advice from the clinical guidelines committee of the American college of physicians. Ann Intern Med 157:808–816

    Article  PubMed  Google Scholar 

  • Shaheen NJ, Falk GW, Iyer PG, Gerson LB (2016) ACG clinical guideline: diagnosis and management of Barrett’s esophagus. Am J Gastroenterol 111:30–50

    Article  CAS  PubMed  Google Scholar 

  • Shaukat A, Wang A, Acosta RD, Bruining DH, Chandrasekhara V, Chathadi KV et al (2015) The role of endoscopy in dyspepsia. Gastrointest Endosc 82:227–232

    Article  PubMed  Google Scholar 

  • Shitara K, Ohtsu A (2016) Advances in systemic therapy for metastatic or advanced gastric cancer. J Natl Compr Cancer Netw JNCCN 14:1313–1320

    Article  PubMed  Google Scholar 

  • Siegel RL, Miller KD, Jemal A (2016) Cancer statistics, 2016. CA Cancer J Clin 66:7–30

    Article  PubMed  Google Scholar 

  • Sitas F, Egger S, Urban MI, Taylor PR, Abnet CC, Boffetta P, et al (2012) InterSCOPE study: associations between esophageal squamous cell carcinoma and human papillomavirus serological markers. J Natl Cancer Inst 104:147–158

    Google Scholar 

  • Skeldon SC, Semotiuk K, Aronson M, Holter S, Gallinger S, Pollett A et al (2013) Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer. Eur Urol 63:379–385. doi:10.1016/j.eururo.2012.07.047

    Article  CAS  PubMed  Google Scholar 

  • Soltani M, Tabatabaiefar MA, Mohsenifar Z, Pourreza MR, Moridnia A, Shariati L, et al (2017) Genetic study of the BRAF gene reveals a new variants and high frequency of the V600E mutation among Iranian ameloblastoma patients. J Oral Pathol Med. doi:10.1111/jop.12610

  • Stadler ZK, Battaglin F, Middha S, Hechtman JF, Tran C, Cercek A et al (2016) reliable detection of mismatch repair deficiency in colorectal cancers using mutational load in next-generation sequencing panels. J Clin Oncol 34:2141–2147. doi:10.1200/JCO.2015.65.1067

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Steevens J, Schouten LJ, Goldbohm RA, van den Brandt PA (2010) Alcohol consumption, cigarette smoking and risk of subtypes of oesophageal and gastric cancer: a prospective cohort study. Gut 59:39–48

    Article  CAS  PubMed  Google Scholar 

  • Stoffel EM, Mangu PB, Limburg PJ, American Society of Clinical O, European Society for Medical O (2015) Hereditary colorectal cancer syndromes: American society of clinical oncology clinical practice guideline endorsement of the familial risk-colorectal cancer: European society for medical oncology clinical practice guidelines. J Oncol Pract 11:e437–441. doi:10.1200/JOP.2015.003665

  • Suerbaum S, Michetti P (2002) Helicobacter pylori infection. N Engl J Med 347:1175–1186. doi:10.1056/NEJMra020542

    Article  CAS  PubMed  Google Scholar 

  • Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW (2015) ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 110:223–262

    Article  PubMed  PubMed Central  Google Scholar 

  • Tabatabaiefar MA, Alipour P, Pourahmadiyan A, Fattahi N, Shariati L, Golchin N, Mohammadi-Asl J (2017) A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis. J Neurol Sci 379:212–216. doi:10.1016/j.jns.2017.06.012

  • Taghavi N, Biramijamal F, Sotoudeh M, Khademi H, Malekzadeh R, Moaven O et al (2010) p16INK4a hypermethylation and p53, p16 and MDM2 protein expression in esophageal squamous cell carcinoma. BMC Cancer 10:138. doi:10.1186/1471-2407-10-138

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Talseth-Palmer BA (2017) The genetic basis of colonic adenomatous polyposis syndromes. Hered Cancer Clin Pract 15:5. doi:10.1186/s13053-017-0065-x

    Article  PubMed  PubMed Central  Google Scholar 

  • Tezcan G, Tunca B, Ak S, Cecener G, Egeli U (2016) Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer. World J Gastrointest Oncol 8:83–98. doi:10.4251/wjgo.v8.i1.83

    Article  PubMed  PubMed Central  Google Scholar 

  • Tiwari SK, Manoj G, Kumar GV, Sivaram G, Hassan SI, Prabhakar B et al (2008) Prognostic significance of genotyping Helicobacter pylori infection in patients in younger age groups with gastric cancer. Postgrad Med J 84:193–197. doi:10.1136/pgmj.2007.065060

    Article  CAS  PubMed  Google Scholar 

  • Tiwari SK, Manoj G, Sharma V, Sivaram G, Saikant R, Bardia A et al (2010) Relevance of Helicobacter pylori genotypes in gastric pathology and its association with plasma malondialdehyde and nitric oxide levels. Inflammopharmacology 18:59–64. doi:10.1007/s10787-010-0031-y

    Article  CAS  PubMed  Google Scholar 

  • Torek F (1913) The first successful resection of the thoracic portion of the esophagus for carcinoma: preliminary report. J Am Med Assoc 60:1533–1533

    Google Scholar 

  • Tsujiura M, Ichikawa D, Konishi H, Komatsu S, Shiozaki A, Otsuji E (2014) Liquid biopsy of gastric cancer patients: circulating tumor cells and cell-free nucleic acids. World J Gastroenterol WJG 20:3265

    Article  CAS  PubMed  Google Scholar 

  • Tu H, Sun L, Dong X, Gong Y, Xu Q, Jing J et al (2017) A serological biopsy using five stomach-specific circulating biomarkers for gastric cancer risk assessment: a multi-phase study. Am J Gastroenterol 112:704–715. doi:10.1038/ajg.2017.55

    Article  PubMed  Google Scholar 

  • Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Ruschoff J et al (2004) Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96:261–268

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Van Cutsem E, Köhne C-H, Láng I, Folprecht G, Nowacki MP, Cascinu S et al (2011) Cetuximab plus irinotecan, fluorouracil, and leucovorin as first-line treatment for metastatic colorectal cancer: updated analysis of overall survival according to tumor KRAS and BRAF mutation status. J Clin Oncol 29:2011–2019

    Article  PubMed  CAS  Google Scholar 

  • Van Cutsem E, Cervantes A, Adam R, Sobrero A, Van Krieken JH, Aderka D et al (2016) ESMO consensus guidelines for the management of patients with metastatic colorectal cancer. Ann Oncol 27:1386–1422. doi:10.1093/annonc/mdw235

    Article  PubMed  Google Scholar 

  • van der Gun BT, Melchers LJ, Ruiters MH, de Leij LF, McLaughlin PM, Rots MG (2010) EpCAM in carcinogenesis: the good, the bad or the ugly. Carcinogenesis 31:1913–1921

    Article  PubMed  CAS  Google Scholar 

  • van der Luijt RB, Meera Khan P, Vasen HF, Breukel C, Tops CM, Scott RJ et al (1996) Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. Hum Genet 98:727–734

    Article  PubMed  Google Scholar 

  • van der Post RS, Kiemeney LA, Ligtenberg MJ, Witjes JA, Hulsbergen-van de Kaa CA, Bodmer D et al (2010) Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. J Med Genet 47:464–470. doi:10.1136/jmg.2010.076992

    Article  PubMed  PubMed Central  Google Scholar 

  • van der Post RS, Vogelaar IP, Carneiro F, Guilford P, Huntsman D, Hoogerbrugge N et al (2015) Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet 52:361–374

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Vasen HF, Watson P, Mecklin JP, Lynch HT (1999) New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the international collaborative group on HNPCC. Gastroenterology 116:1453–1456

    Article  CAS  PubMed  Google Scholar 

  • Vasen HF, Moslein G, Alonso A, Aretz S, Bernstein I, Bertario L et al (2008) Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57:704–713. doi:10.1136/gut.2007.136127

    Article  CAS  PubMed  Google Scholar 

  • Wallis YL, Macdonald F, Hulten M, Morton JE, McKeown CM, Neoptolemos JP et al (1994) Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis. Hum Genet 94:543–548

    Article  CAS  PubMed  Google Scholar 

  • Wang K, Kan J, Yuen ST, Shi ST, Chu KM, Law S et al (2011) Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer. Nat Genet 43:1219–1223

    Article  CAS  PubMed  Google Scholar 

  • Wang J, Yu JM, Jing SW, Guo Y, Wu YJ, Li N et al (2014a) Relationship between EGFR over-expression and clinicopathologic characteristics in squamous cell carcinoma of the esophagus: a meta-analysis. Asian Pac J Cancer Prev 15:5889–5893

    Article  PubMed  Google Scholar 

  • Wang K, Yuen ST, Xu J, Lee SP, Yan HH, Shi ST et al (2014b) Whole-genome sequencing and comprehensive molecular profiling identify new driver mutations in gastric cancer. Nat Genet 46:573–582

    Article  CAS  PubMed  Google Scholar 

  • Wang H, Yu J, Guo Y, Zhang Z, Liu G, Li J et al (2016) Genetic variants in the ZNF208 gene are associated with esophageal cancer in a Chinese Han population. Oncotarget 7:86829–86835. doi:10.18632/oncotarget.13468

    PubMed  PubMed Central  Google Scholar 

  • Wijnen J, Khan PM, Vasen H, van der Klift H, Mulder A, van Leeuwen-Cornelisse I et al (1997) Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations. Am J Hum Genet 61:329–335. doi:10.1086/514847

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Wilson PM, LaBonte MJ, Lenz H-J (2010) Molecular markers in the treatment of metastatic colorectal cancer. Cancer J 16:262–272

    Article  CAS  PubMed  Google Scholar 

  • Winawer S, Fletcher R, Rex D, Bond J, Burt R, Ferrucci J et al (2003) Colorectal cancer screening and surveillance: clinical guidelines and rationale-update based on new evidence. Gastroenterology 124:544–560. doi:10.1053/gast.2003.50044

    Article  PubMed  Google Scholar 

  • Woods CG (2007) A practical guide to human cancer genetics. Clin Med 7:196–197

    Article  Google Scholar 

  • Worthley D, Phillips K, Wayte N, Schrader K, Healey S, Kaurah P et al (2012) Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome. Gut 61:774–779

    Article  CAS  PubMed  Google Scholar 

  • Wu CH, Lin SR, Yu FJ, Wu DC, Pan YS, Hsieh JS et al (2006) Development of a high-throughput membrane-array method for molecular diagnosis of circulating tumor cells in patients with gastric cancers. Int J Cancer 119:373–379

    Article  CAS  PubMed  Google Scholar 

  • Wu C, Hu Z, He Z, Jia W, Wang F, Zhou Y et al (2011) Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. Nat Genet 43:679–684

    Article  CAS  PubMed  Google Scholar 

  • Wu Y, Yan M, Li J, Li J, Chen Z, Chen P et al (2017) Genetic polymorphisms in TERT are associated with increased risk of esophageal cancer. Oncotarget 8:10523–10530. doi:10.18632/oncotarget.14451

    PubMed  PubMed Central  Google Scholar 

  • Xu C, Liu Y, Jiang D, Li Q, Ge X, Zhang Y et al (2017) Poor efficacy response to trastuzumab therapy in advanced gastric cancer with homogeneous HER2 positive and non-intestinal type. Oncotarget. doi:10.18632/oncotarget.16567

    Google Scholar 

  • You JJ, Wong RK, Darling G, Gulenchyn K, Urbain JL, Evans WK (2013) Clinical utility of 18F-fluorodeoxyglucose positron emission tomography/computed tomography in the staging of patients with potentially resectable esophageal cancer. J Thorac Oncol 8:1563–1569. doi:10.1097/JTO.0000000000000006

    Article  PubMed  Google Scholar 

  • Zang ZJ, Cutcutache I, Poon SL, Zhang SL, McPherson JR, Tao J et al (2012) Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes. Nat Genet 44:570–574

    Article  CAS  PubMed  Google Scholar 

  • Ziadi S, Ksiaa F, Ben Gacem R, Labaied N, Mokni M, Trimeche M (2014) Clinicopathologic characteristics of colorectal cancer with microsatellite instability. Pathol Res Pract 210:98–104. doi:10.1016/j.prp.2013.10.004

    Article  CAS  PubMed  Google Scholar 

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Tabatabaiefar, M.A., Moridnia, A. (2017). Gastrointestinal Cancers. In: Mehdipour, P. (eds) Cancer Genetics and Psychotherapy. Springer, Cham. https://doi.org/10.1007/978-3-319-64550-6_12

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