Detection of DNA Repair Protein in Colorectal Cancer of Patients Up to 50 years Old Can Increase the Identification of Lynch Syndrome?

Overview

Journal Tumour Biol

Publisher Sage Publications

Specialty Oncology

Date 2015 Sep 27

PMID 26408182

Citations 3

Authors

Demetrius Eduardo Germini

Ana Maria Amaral Antonio Mader

Luiz Guilherme Lisboa Gomes

Therese Rachel Teodoro

Maria Isete Fares Franco

Jaques Waisberg

Affiliations

Soon will be listed here.

Abstract

The aim of this study was to compare the results of protein level of the DNA mismatch repair genes with the clinical diagnosis of Lynch syndrome according to the Amsterdam II criteria in patients 50 years and younger who underwent surgery for colorectal cancer. The subjects of analysis were 48 patients 50 years old and younger. Immunohistochemistry assays were performed to detect proteins from the DNA mismatch repair genes. Clinicopathological data and Amsterdam II criteria for the diagnosis of hereditary nonpolyposis colorectal cancer were obtained by analyzing medical records. Two (4 %) patients satisfied the Amsterdam II criteria for Lynch syndrome, and both presented levels of all of the studied mismatch repair proteins. A total of 13 (27 %) patients exhibited the absence of protein levels of the studied mismatch repair genes. None of these patients were considered suspicious for Lynch syndrome according to the Amsterdam II criteria. Screening for the level of proteins of the mismatch repair system in all colorectal cancer patients 50 years and younger can increase the identification of patients with suspicion of Lynch syndrome.

Citing Articles

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Rossi B, Palmero E, Lopez-Kostner F, Sarroca C, Vaccaro C, Spirandelli F BMC Cancer. 2017; 17(1):623.

PMID: 28874130 PMC: 5586063. DOI: 10.1186/s12885-017-3599-4.

Risk of subsequent primary malignancies among patients with prior colorectal cancer: a population-based cohort study.

Yang J, Li S, Lv M, Wu Y, Chen Z, Shen Y Onco Targets Ther. 2017; 10:1535-1548.

PMID: 28352187 PMC: 5359119. DOI: 10.2147/OTT.S129220.

Locked nucleic acid inhibits miR-92a-3p in human colorectal cancer, induces apoptosis and inhibits cell proliferation.

Ahmadi S, Sharifi M, Salehi R Cancer Gene Ther. 2016; 23(7):199-205.

PMID: 27199220 DOI: 10.1038/cgt.2016.10.

References

Stupart D, Goldberg P, Baigrie R, Algar U, Ramesar R . Surgery for colonic cancer in HNPCC: total vs segmental colectomy. Colorectal Dis. 2010; 13(12):1395-9. DOI: 10.1111/j.1463-1318.2010.02467.x. View

Guo J, Zheng L, Liu W, Wang X, Wang Z, Wang Z . Frequent truncating mutation of TFAM induces mitochondrial DNA depletion and apoptotic resistance in microsatellite-unstable colorectal cancer. Cancer Res. 2011; 71(8):2978-87. PMC: 3710668. DOI: 10.1158/0008-5472.CAN-10-3482. View

Talseth-Palmer B, McPhillips M, Groombridge C, Spigelman A, Scott R . MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. Hered Cancer Clin Pract. 2010; 8(1):5. PMC: 2890527. DOI: 10.1186/1897-4287-8-5. View

Geary J, Sasieni P, Houlston R, Izatt L, Eeles R, Payne S . Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC). Fam Cancer. 2007; 7(2):163-72. DOI: 10.1007/s10689-007-9164-6. View

Huang J, Kuismanen S, Liu T, Chadwick R, Johnson C, Stevens M . MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. Cancer Res. 2001; 61(4):1619-23. View

Koehler-Santos P, Izetti P, Abud J, Pitroski C, Cossio S, Alves Camey S . Identification of patients at-risk for Lynch syndrome in a hospital-based colorectal surgery clinic. World J Gastroenterol. 2011; 17(6):766-73. PMC: 3042655. DOI: 10.3748/wjg.v17.i6.766. View

Shia J . Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J Mol Diagn. 2008; 10(4):293-300. PMC: 2438196. DOI: 10.2353/jmoldx.2008.080031. View

Wu Y, Berends M, Sijmons R, Mensink R, Verlind E, Kooi K . A role for MLH3 in hereditary nonpolyposis colorectal cancer. Nat Genet. 2001; 29(2):137-8. DOI: 10.1038/ng1001-137. View

Limburg P, Harmsen W, Chen H, Gallinger S, Haile R, Baron J . Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer. Clin Gastroenterol Hepatol. 2010; 9(6):497-502. PMC: 3058119. DOI: 10.1016/j.cgh.2010.10.021. View

10.

Jemal A, Siegel R, Xu J, Ward E . Cancer statistics, 2010. CA Cancer J Clin. 2010; 60(5):277-300. DOI: 10.3322/caac.20073. View

11.

Hendriks Y, Wagner A, Morreau H, Menko F, Stormorken A, Quehenberger F . Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology. 2004; 127(1):17-25. DOI: 10.1053/j.gastro.2004.03.068. View

12.

Takahashi M, Koi M, Balaguer F, Boland C, Goel A . MSH3 mediates sensitization of colorectal cancer cells to cisplatin, oxaliplatin, and a poly(ADP-ribose) polymerase inhibitor. J Biol Chem. 2011; 286(14):12157-65. PMC: 3069420. DOI: 10.1074/jbc.M110.198804. View

13.

Bouzourene H, Hutter P, Losi L, Martin P, Benhattar J . Selection of patients with germline MLH1 mutated Lynch syndrome by determination of MLH1 methylation and BRAF mutation. Fam Cancer. 2009; 9(2):167-72. DOI: 10.1007/s10689-009-9302-4. View

14.

Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter J . The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008; 135(2):419-28. PMC: 2759321. DOI: 10.1053/j.gastro.2008.04.026. View

15.

Ganapathi S, Kumar D, Katsoulas N, Melville D, Hodgson S, Finlayson C . Colorectal cancer in the young: trends, characteristics and outcome. Int J Colorectal Dis. 2011; 26(7):927-34. DOI: 10.1007/s00384-011-1174-z. View

16.

Stoffel E, Mukherjee B, Raymond V, Tayob N, Kastrinos F, Sparr J . Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology. 2009; 137(5):1621-7. PMC: 2767441. DOI: 10.1053/j.gastro.2009.07.039. View

17.

Martellucci J, Civitelli S, Dhamo A, Tanzini G . Familial colorectal cancer: a concept revisited. Colorectal Dis. 2008; 11(2):133-7. DOI: 10.1111/j.1463-1318.2008.01561.x. View

18.

OConnell J, Maggard M, Livingston E, Yo C . Colorectal cancer in the young. Am J Surg. 2004; 187(3):343-8. DOI: 10.1016/j.amjsurg.2003.12.020. View

19.

Southey M, Jenkins M, Mead L, Whitty J, Trivett M, Tesoriero A . Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. J Clin Oncol. 2005; 23(27):6524-32. DOI: 10.1200/JCO.2005.04.671. View

20.

de Jong A, van Puijenbroek M, Hendriks Y, Tops C, Wijnen J, Ausems M . Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res. 2004; 10(3):972-80. DOI: 10.1158/1078-0432.ccr-0956-3. View