E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer

Human Mutation

Volumn 14, Issue 3, 1999, Pages 249-255

  Guilford, Parry J ^a   Hopkins, Justin B W ^a   Grady, William M ^b   Markowitz, Sanford D ^b   Willis, Joseph ^b   Lynch, Henry ^c   Rajput, Ashwani ^b   Wiesner, Georgia L ^b   Lindor, Noralane M ^d   Burgart, Lawrence J ^d   Toro, Tumi T ^a   Lee, Don ^a   Limacher, Jean Marc ^e   Shaw, David W ^f   Findlay, Michael P N ^g   Reeve, Anthony E ^a  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^c CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d MAYO CLINIC   (United States)

^e Hd pitaux Universitaires   (France)

^f TAURANGA HOSPITAL   (New Zealand)

^g WELLINGTON HOSPITAL   (New Zealand)

Author keywords

CDH1; Diffuse gastric cancer; E cadherin; Germline; Inherited

Indexed keywords

UVOMORULIN;

ARTICLE; CANCER CLASSIFICATION; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; STOMACH CANCER; STOMACH CARCINOGENESIS;

ADENOCARCINOMA; ADULT; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; CADHERINS; DNA MUTATIONAL ANALYSIS; FEMALE; GERM-LINE MUTATION; HUMANS; LEUKOCYTES; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; STOMACH NEOPLASMS; SYNDROME;

EID: 0032865483     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)14:3<249::AID-HUMU8>3.0.CO;2-9     Document Type: Article

References (29)

1. Allgayer H, Keiss MM, Schildberg FW. 1997. Prognostic factors in gastric cancer. Br J Surg 84:1651-1664.
2. Becker K-F, Atkinson MJ, Reich U, Breaker I, Nekarda H, Siewart JR, Hofler H. 1994. E-cadherin gene mutations provide clues to diffuse type gastric carcinomas. Cancer Res 54:3845-3852.
3. Berx G, Cleton-Jansen A-M, Nollet F, de Leeuw WJF, van de Vijver MJ, Cornelisse C, van Roy F. 1995a. E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. EMBO J 14:6107-6115.
4. Berx G, Staes K, Hengel JV, Molemans F, Bussemakers MJG, Bokhoven AV, van Roy F. 1995b. Cloning and characterization of the human invasion suppressor gene E-cadherin (CDH1). Genomics 26:281-289.
5. Berx G, Cleton-Jansen A-M, Strumane K, de Leeuw WJF, Nollet F, van Roy F, Cornelisse C. 1996. E-cadherin is inactivated in a majority of invasive human lobular breast cancers by truncation mutations throughout its extracellular domain. Oncogene 13:1919-1925.
6. Berx G, Becker K-F, Hofler H, van Roy F. 1998. Mutations of the human E-cadherin (CDH1) gene. Hum Mutat 12:226-237.
7. Campbell S, Fraser A, Holliss B, Scmid J, O'Toole PW. 1997. Evidence for ethnic tropism of Helicobacter pylori. Intect Immun 65:3708-3712.
8. Eurogast Study Group. 1993. An international association between Helicobacter pylori infection and gastric cancer. Lancet 341:1359-1362.
9. Everett SM, Axon ATR. 1997. Early gastric cancer in Europe. Gut 41:142-150.
10. Frixen EH, Behrens J, Sachs M, Eberle G, Voss B, Warda A, Lochner D, Birchmeier W. 1991. E-cadherin-mediated cell-cell adhesion prevents invasiveness of human carcinoma cells. J Cell Biol 113:173-185.
11. Gayther SA, Gorringe KL, Ramus SJ, Huntsman D, Roviello F, Grehan N, Machado JC, Pinto E, Seruca R, Hailing K, MacLeod P Powell SM, Jackson CE, Ponder BAJ, Caldas C. 1998. Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. Cancer Res 58:4086-4089.
12. Grady WM, Rajput A, Myeroff L, Lui DF, Kwon K-H, Willis J, Markowitz S. 1998. Mutation of the type II transforming growth factor β receptor is coincident with the transformation of human colon adenomas to malignant carcinomas. Cancer Res 58:3101-3104.
13. Greer CE, Wheeler CM, Manos MM 1995. PCR amplification from paraffin-embedded tissues: sample preparation and the effects of fixation. In: Dieffenbach CW, Dveksler GS, editors. PCR primer. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, p 99-112.
14. Guilford P. 1999. E-cadherin downregulation in cancer: fuel on the fire? Mol Med Today 5:172-177.
15. Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira R Taite H, Secular R, Miller A, Reeve AE. 1998. E-cadherin germline mutations in familial gastric cancer. Nature 392:402-405.
16. Hanby AM, Chinery R, Poulsom R, Playford RJ, Pignatelli M. 1996. Downregulation of E-cadherin in the reparative epithelium of the human gastrointestinal tract. Am J Path 148:723-729.
17. Hirohashi S. 1998. Inactivation of the E-cadherin-mediated cell adhesion system in human cancers. Am J Pathol 153:333-339.
18. Hisamichi S, Fukai A, Tsubono Y. 1993. Evaluation of mass screening for stomach cancer. In: Nishi M, Ichikawa H, Nakajima T, Maruyama K, Tahara E, editors. Gastric Cancer. Tokyo: Springer-Verlag. p 16-25.
19. Kikuchi S, Wada O, Nakajima T, Nishi T, Kobayashi O, Konishi T, Inaba Y, and the Research Group on Prevention of Gastric Carcinoma among Young Adults. 1995. Serum anti-Helicobacter pylori antibody and gastric carcinoma among young adults. Cancer (Phila) 75:2789-2793.
20. Lauren P. 1965. The two histological main types of gastric carcinoma: diffuse and so-called intestinal-type carcinoma. An attempt at a histo-clinical classification. Acta Pathol Microbiol Scand 64:31-49.
21. Msika S, Tazi MA, Benhamiche AM, Couillault C, Harb M, Faivre J. 1997. Population-based study of diagnosis, treatment and prognosis of gastric cancer. Br J Surg 84:1474-1478.
22. Nagawa H, Seto Y, Muto T. 1997. Recent advances in gastric cancer. Digestion 58(suppl 1):62-64.
23. Padgett RA, Grabowski PJ, Konarska MM, Seiler S, Sharp PA. 1986. Splicing of messenger RNA precursors. Annu Rev Biochem 55:1119-1150.
24. Perl A-K, Wilgenbus P, Dahl U, Semb H, Christofori G. 1998. A causal role for E-cadherin in the transition from adenoma to carcinoma. Nature 392:190-193.
25. Richards FM, McKee SA, Rajpar MH, Cole TRR, Evans DGR, Jankowski JA, McKeown C, Sanders DSA, Maher ER. 1999. Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum. Mol. Genet. 8:607-610.
26. Stone J, Bevan S, Cunningham D, Hill A, Rahman N, Peto J, Marossy A, Houlston RS. 1999. Low frequency of germline E-cadherin mutations in familial and nonfamilial gastric cancer. Br J Cancer 79:1935-1937.
27. Terrés AM, Pajares JM, O'Toole D, Ahern S, Kelleher D. 1998. H. pylori infection is associated with downregulation of E-cadherin, a molecule involved in epithelial cell adhesion and proliferation control. J Clin Pathol 51:410-412.
28. Vleminckx K, Vakaet L, Mareel M, Fiers W, van Roy F. 1991. Genetic manipulation of E-cadherin expression by epithelial tumor cells reveals an invasion suppressor role. Cell 66:107-119.
29. Watanabe H, Jass JR, Sobin LH. 1990. Histological typing of oesophageal and gastric tumours. Berlin: Springer-Verlag. p 20-24.