Hereditary Diffuse Gastric Cancer and CDH1 Gene_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

ZHOU Chunyu ¹ , CHEN Yuanjia ¹ , LI Xiaoyi ²

1.Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &;
Peking Union Medical College, Beijing 100730， China;;
2.Department of General Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &;
Peking Union Medical College, Beijing 100730， China;

Corresponding author：

Keywords：

Hereditary diffuse gastric cancer; CDH1; Mutation; Methylation; Single nucleotide polymorphism

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Objective To review the research progress in relationship between hereditary diffuse gastric cancer (HDGC) and CDH1 gene. Methods Literatures on HDGC which were published in recent years were collected and analyzed. Results Aberrant CDH1 gene is significantly correlated with HDGC: mutations of CDH1 exons play the most important role in pathogenesis of HDGC. Screening CDH1 gene mutation is useful for diagnosis of HDGC as well as the treatments. Alterations of CDH1 other than exon mutation, such as intron mutation, gene promoter methylation and single nucleotide polymorphism may result in downregulation of the gene expression. Further study should be done to confirm the roles of these alterations. Conclusions Alterations of CDH1 gene are significantly associated with the pathogenesis of HDGC. Detecting alterations of CDH1 gene are important for diagnosis and management of HDGC as well as to get insights of the pathogenesis of the disease.

Citation： ZHOU Chunyu,CHEN Yuanjia,LI Xiaoyi. Hereditary Diffuse Gastric Cancer and CDH1 Gene. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2009, 16(11): 944-947. doi: Copy

1.	Oliveira C, Seruca R, Carneiro F. Hereditary gastric cancer [J]. Best Pract Res Clin Gastroenterol, 2009; 23(2): 147-157.
2.	Guilford P, Hopkins J, Harraway J, et al. E-cadherin germline mutations in familial gastric cancer [J]. Nature, 1998; 392(6674): 402-405.
3.	van Kouwen MC, Drenth JP, Oyen WJ, et al. [18F]Fluoro-2-deoxy-D-glucose positron emission tomography detects gastric carcinoma in an early stage in an asymptomatic E-cadherin mutation carrier [J]. Clin Cancer Res, 2004; 10(19): 6456-6459.
4.	Shaw D, Blair V, Framp A, et al. Chromoendoscopic surveillance in hereditary diffuse gastric cancer: an alternative to prophylactic gastrectomy? [J]. Gut, 2005; 54(4): 461-468.
5.	Caldas C, Carneiro F, Lynch HT, et al. Familial gastric ca-ncer: overview and guidelines for management [J]. J Med Genet, 1999; 36(12): 873-880.
6.	Pharoah PD, Guilford P, Caldas C, et al. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families [J]. Gastroenterology, 2001; 121(6): 1348-1353.
7.	Schrader KA, Masciari S, Boyd N. Hereditary diffuse gastric cancer: association with lobular breast cancer [J]. Fam Cancer, 2008; 7(1): 73-82.
8.	Cisco RM, Norton JA. Hereditary diffuse gastric cancer: su-rgery, surveillance and unanswered questions [J]. Future Oncol, 2008; 4(4): 553-559.
9.	Huntsman DG, Carneiro F, Lewis FR, et al. Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations [J]. N Engl J Med, 2001; 344(25): 1904-1909.
10.	Rogers WM, Dobo E, Norton JA, et al. Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications [J]. Am J Surg Pathol, 2008; 32(6): 799-809.
11.	Hayashi K, Burghardt RC, Bazer FW, et al. WNTs in the ovine uterus: potential regulation of periimplantation ovine conceptus development [J]. Endocrinology, 2007; 148(7): 3496-3506.
12.	Salahshor S, Naidoo R, Serra S, et al. Frequent accumulation of nuclear E-cadherin and alterations in the Wnt signaling pathway in esophageal squamous cell carcinomas [J]. Mod Pathol, 2008; 21(3): 271-281.
13.	De Wever O, Derycke L, Hendrix A, et al. Soluble cadherins as cancer biomarkers [J]. Clin Exp Metastasis, 2007; 24(8): 685-697.
14.	Kaurah P, MacMillan A, Boyd N, et al. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer [J]. JAMA, 2007; 297(21): 2360-2372.
15.	Pedrazzani C, Corso G, Marrelli D, et al. E-cadherin and hereditary diffuse gastric cancer [J]. Surgery, 2007; 142(5): 645-657.
16.	朱正纲, 于颖彦, 张奕, 等. 胃癌/乳腺癌先证者家族性癌症综合征家系CDH1突变分析及病理学特征 [J]. 中华消化杂志, 2004; 24(6): 344-348.
17.	姜勇, 万远廉, 王振军, 等. 遗传性弥漫型胃癌上皮型钙黏素基因种系突变的检测 [J]. 中华外科杂志, 2004; 42(15): 914-917.
18.	González-Flecha B, Demple B. Homeostatic regulation of intracellular hydrogen peroxide concentration in aerobically growing Escherichia coli [J]. J Bacteriol, 1997; 179(2): 382-388.
19.	González-Flecha B, Demple B. Role for the oxyS gene in regulation of intracellular hydrogen peroxide in Escherichia coli [J]. J Bacteriol, 1999; 181(12): 3833-3836.
20.	Stemmler MP, Hecht A, Kemler R. E-cadherin intron 2 contains cis-regulatory elements essential for gene expression [J]. Development, 2005; 132(5): 965-976.
21.	More H, Humar B, Weber W, et al. Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene [J]. Hum Mutat, 2007; 28(2): 203.
22.	Richards FM, McKee SA, Rajpar MH, et al. Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer [J]. Hum Mol Genet, 1999; 8(4): 607-610.
23.	Moran CJ, Joyce M, McAnena OJ. CDH1 associated gastric cancer: a report of a family and review of the literature [J]. Eur J Surg Oncol, 2005; 31(3): 259-264.
24.	Grady WM, Willis J, Guilford PJ, et al. Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer [J]. Nat Genet, 2000; 26(1): 16-17.
25.	Barber M, Murrell A, Ito Y, et al. Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer [J]. J Pathol, 2008; 216(3): 295-306.
26.	Berx G, Becker KF, Hfler H, et al. Mutations of the human E-cadherin (CDH1) gene [J]. Hum Mutat, 1998; 12(4): 226-237.
27.	Nasri S, More H, Graziano F, et al. A novel diffuse gastric cancer susceptibility variant in E-cadherin (CDH1) intron 2: a case control study in an Italian population [J]. BMC Cancer, 2008; 8: 138.
28.	Gao L, Nieters A, Brenner H. Meta-analysis: tumour invasion-related genetic polymorphisms and gastric cancer susceptibility [J]. Aliment Pharmacol Ther, 2008; 28(5): 565-573.
29.	Humar B, Toro T, Graziano F, et al. Novel germline CDH1 mutations in hereditary diffuse gastric cancer families [J]. Hum Mutat, 2002; 19(5): 518-525.
30.	金凡, 周淑贞, 陶蓉芳，等. 上海市区恶性肿瘤发病趋势1972～1994年 [J]. 肿瘤， 1999; 19(5)： 255-258.

1. Oliveira C, Seruca R, Carneiro F. Hereditary gastric cancer [J]. Best Pract Res Clin Gastroenterol, 2009; 23(2): 147-157.
2. Guilford P, Hopkins J, Harraway J, et al. E-cadherin germline mutations in familial gastric cancer [J]. Nature, 1998; 392(6674): 402-405.
3. van Kouwen MC, Drenth JP, Oyen WJ, et al. [18F]Fluoro-2-deoxy-D-glucose positron emission tomography detects gastric carcinoma in an early stage in an asymptomatic E-cadherin mutation carrier [J]. Clin Cancer Res, 2004; 10(19): 6456-6459.
4. Shaw D, Blair V, Framp A, et al. Chromoendoscopic surveillance in hereditary diffuse gastric cancer: an alternative to prophylactic gastrectomy? [J]. Gut, 2005; 54(4): 461-468.
5. Caldas C, Carneiro F, Lynch HT, et al. Familial gastric ca-ncer: overview and guidelines for management [J]. J Med Genet, 1999; 36(12): 873-880.
6. Pharoah PD, Guilford P, Caldas C, et al. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families [J]. Gastroenterology, 2001; 121(6): 1348-1353.
7. Schrader KA, Masciari S, Boyd N. Hereditary diffuse gastric cancer: association with lobular breast cancer [J]. Fam Cancer, 2008; 7(1): 73-82.
8. Cisco RM, Norton JA. Hereditary diffuse gastric cancer: su-rgery, surveillance and unanswered questions [J]. Future Oncol, 2008; 4(4): 553-559.
9. Huntsman DG, Carneiro F, Lewis FR, et al. Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations [J]. N Engl J Med, 2001; 344(25): 1904-1909.
10. Rogers WM, Dobo E, Norton JA, et al. Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications [J]. Am J Surg Pathol, 2008; 32(6): 799-809.
11. Hayashi K, Burghardt RC, Bazer FW, et al. WNTs in the ovine uterus: potential regulation of periimplantation ovine conceptus development [J]. Endocrinology, 2007; 148(7): 3496-3506.
12. Salahshor S, Naidoo R, Serra S, et al. Frequent accumulation of nuclear E-cadherin and alterations in the Wnt signaling pathway in esophageal squamous cell carcinomas [J]. Mod Pathol, 2008; 21(3): 271-281.
13. De Wever O, Derycke L, Hendrix A, et al. Soluble cadherins as cancer biomarkers [J]. Clin Exp Metastasis, 2007; 24(8): 685-697.
14. Kaurah P, MacMillan A, Boyd N, et al. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer [J]. JAMA, 2007; 297(21): 2360-2372.
15. Pedrazzani C, Corso G, Marrelli D, et al. E-cadherin and hereditary diffuse gastric cancer [J]. Surgery, 2007; 142(5): 645-657.
16. 朱正纲, 于颖彦, 张奕, 等. 胃癌/乳腺癌先证者家族性癌症综合征家系CDH1突变分析及病理学特征 [J]. 中华消化杂志, 2004; 24(6): 344-348.
17. 姜勇, 万远廉, 王振军, 等. 遗传性弥漫型胃癌上皮型钙黏素基因种系突变的检测 [J]. 中华外科杂志, 2004; 42(15): 914-917.
18. González-Flecha B, Demple B. Homeostatic regulation of intracellular hydrogen peroxide concentration in aerobically growing Escherichia coli [J]. J Bacteriol, 1997; 179(2): 382-388.
19. González-Flecha B, Demple B. Role for the oxyS gene in regulation of intracellular hydrogen peroxide in Escherichia coli [J]. J Bacteriol, 1999; 181(12): 3833-3836.
20. Stemmler MP, Hecht A, Kemler R. E-cadherin intron 2 contains cis-regulatory elements essential for gene expression [J]. Development, 2005; 132(5): 965-976.
21. More H, Humar B, Weber W, et al. Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene [J]. Hum Mutat, 2007; 28(2): 203.
22. Richards FM, McKee SA, Rajpar MH, et al. Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer [J]. Hum Mol Genet, 1999; 8(4): 607-610.
23. Moran CJ, Joyce M, McAnena OJ. CDH1 associated gastric cancer: a report of a family and review of the literature [J]. Eur J Surg Oncol, 2005; 31(3): 259-264.
24. Grady WM, Willis J, Guilford PJ, et al. Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer [J]. Nat Genet, 2000; 26(1): 16-17.
25. Barber M, Murrell A, Ito Y, et al. Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer [J]. J Pathol, 2008; 216(3): 295-306.
26. Berx G, Becker KF, Hfler H, et al. Mutations of the human E-cadherin (CDH1) gene [J]. Hum Mutat, 1998; 12(4): 226-237.
27. Nasri S, More H, Graziano F, et al. A novel diffuse gastric cancer susceptibility variant in E-cadherin (CDH1) intron 2: a case control study in an Italian population [J]. BMC Cancer, 2008; 8: 138.
28. Gao L, Nieters A, Brenner H. Meta-analysis: tumour invasion-related genetic polymorphisms and gastric cancer susceptibility [J]. Aliment Pharmacol Ther, 2008; 28(5): 565-573.
29. Humar B, Toro T, Graziano F, et al. Novel germline CDH1 mutations in hereditary diffuse gastric cancer families [J]. Hum Mutat, 2002; 19(5): 518-525.
30. 金凡, 周淑贞, 陶蓉芳，等. 上海市区恶性肿瘤发病趋势1972～1994年 [J]. 肿瘤， 1999; 19(5)： 255-258.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Hereditary Diffuse Gastric Cancer and CDH1 Gene

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