Excess of extracolonic non-endometrial multiple primary cancers in MSH2 germline mutation carriers over MLH1

Journal of Surgical Oncology

Volumn 108, Issue 7, 2013, Pages 433-437

  Lin Hurtubise, Kevin M ^a   Yheulon, Christopher G ^a   Gagliano, Ronald A ^a   Lynch, Henry T ^b  

^a TRIPLER ARMY MEDICAL CENTER   (United States)

^b CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

HNPCC; lynch syndrome; MLH1; MSH2; urinary tract

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2;

ADULT; ARTICLE; BILIARY TRACT CANCER; BLADDER CANCER; BRAIN CANCER; BREAST CANCER; CANCER PATIENT; CANCER RISK; CANCER STAGING; CANCER SURVIVAL; COLORECTAL CANCER; COMPARATIVE STUDY; DUODENUM CANCER; ENDOMETRIUM CANCER; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; KIDNEY PELVIS CANCER; MAJOR CLINICAL STUDY; MALE; MULTIPLE CANCER; OVARY CANCER; PANCREAS CANCER; PRIORITY JOURNAL; PROSTATE CANCER; STOMACH CANCER; SURVIVAL RATE; URETER CANCER; URINARY TRACT CANCER;

EID: 84887171683     PISSN: 00224790     EISSN: 10969098     Source Type: Journal    
DOI: 10.1002/jso.23413     Document Type: Article

References (33)

1. Banno K, Kisu I, Yanokura M, et al.: Epimutation and cancer: A new carcinogenic mechanism of lynch syndrome (review). Int J Oncol 2012; 41: 793-797.
2. Barnetson RA, Tenesa A, Farrington SM, et al.: Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 2006; 354: 2751-2763. (Pubitemid 43974193)
3. Bauer CM, Ray AM, Halstead-Nussloch BA, et al.: Hereditary prostate cancer as a feature of lynch syndrome. Fam Cancer 2011; 10: 37-42.
4. Blokhuis MM, Pietersen GE, Goldberg PA, et al.: Lynch syndrome: The influence of environmental factors on extracolonic cancer risk in hMLH1 c.C1528T mutation carriers and their mutation-negative sisters. Fam Cancer 2010; 9: 357-363.
5. Boks DE, Trujillo AP, Voogd AC, et al.: Survival analysis of endometrial carcinoma associated with hereditary nonpolyposis colorectal cancer. Int J Cancer 2002; 102: 198-200. (Pubitemid 35168036)
6. Bonadona V, Bonaiti B, Olschwang S, et al.: Cancer risks associated with germline mutations in MLH1, MSH2, MSH6 genes in lynch syndrome. JAMA 2011; 305: 2304-2310.
7. Bonis PA, Trikalinos TA, Chung M, et al.: Hereditary nonpolyposis colorectal cancer: Diagnostic strategies and their implications. Evid Rep Technol Assess (Full Rep) 2007; 150: 1-180.
8. Buerki N, Gautier L, Kovac M, et al.: Evidence for breast cancer as an integral part of lynch syndrome. Genes Chromosomes Cancer 2012; 51: 83-91.
9. Chung DC, Rustgi AK:, The hereditary nonpolyposis colorectal cancer syndrome: Genetics and clinical implications. Ann Intern Med 2003; 138: 560-570.
10. Crijnen TE, Janssen-Heijnen ML, Gelderblom H, et al.: Survival of patients with ovarian cancer due to a mismatch repair defect. Fam Cancer 2005; 4: 301-305. (Pubitemid 41795805)
11. Goecke T, Schulmann K, Engel C, et al.: Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with lynch syndrome: A report by the German HNPCC consortium. J Clin Oncol 2006; 24: 4285-4292. (Pubitemid 46630786)
12. Hampel H, Frankel WL, Martin E, et al.: Screening for the lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005; 352: 1851-1860.
13. Jenkins MA, Hayashi S, O'Shea AM, et al.: Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: A population-based study. Gastroenterology 2007; 133: 48-56. (Pubitemid 47039240)
14. Kastrinos F, Stoffel EM, Balmana J, et al.: Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the united states. Cancer Epidemiol Biomarkers Prev 2008; 17: 2044-2051.
15. Ladabaum U, Wang G, Terdiman J, et al.: Strategies to identify the lynch syndrome among patients with colorectal cancer: A cost-effectiveness analysis. Ann Intern Med 2011; 155: 69-79.
16. Lin KM, Shashidharan M, Ternent CA, et al.: Colorectal and extracolonic cancer variations in MLH1/MSH2 hereditary nonpolyposis colorectal cancer kindreds and the general population. Dis Colon Rectum 1998; 41: 428-433. (Pubitemid 28169667)
17. Lynch HT, de la Chapelle A:, Hereditary colorectal cancer. N Engl J Med 2003; 348: 919-932. (Pubitemid 36298000)
18. Medina-Arana V, Delgado L, Bravo A, et al.: Tumor spectrum in lynch syndrome, DNA mismatch repair system and endogenous carcinogens. J Surg Oncol 2012; 106: 10-16.
19. Mvundura M, Grosse SD, Hampel H, et al.: The cost-effectiveness of genetic testing strategies for lynch syndrome among newly diagnosed patients with colorectal cancer. Genet Med 2010; 12: 93-104.
20. Peltomaki P, Aaltonen LA, Sistonen P, et al.: Genetic mapping of a locus predisposing to human colorectal cancer. Science 1993; 260: 810-812. (Pubitemid 23167610)
21. Peltomaki P, Gao X, Mecklin JP:, Genotype and phenotype in hereditary nonpolyposis colon cancer: A study of families with different vs. shared predisposing mutations. Fam Cancer 2001; 1: 9-15.
22. Pinol V, Castells A, Andreu M, et al.: Accuracy of revised Bethesda guidelines, microsatellite instability, immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 2005; 293: 1986-1994. (Pubitemid 40570892)
23. Samowitz WS, Curtin K, Lin HH, et al.: The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer. Gastroenterology 2001; 121: 830-838. (Pubitemid 32959394)
24. 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: 293-300. (Pubitemid 352019113)
25. Siegel R, Naishadham D, Jemal A:, Cancer statistics, 2012. CA Cancer J Clin 2012; 62: 10-29.
26. Umar A, Boland CR, Terdiman JP, et al.: Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004; 96: 261-268. (Pubitemid 38256271)
27. van der Post RS, Kiemeney LA, Ligtenberg MJ, et al.: Risk of urothelial bladder cancer in lynch syndrome is increased, in particular among MSH2 mutation carriers. J Med Genet 2010; 47: 464-470.
28. van Wezel T, Middeldorp A, Wijnen JT, et al.: A review of the genetic background and tumour profiling in familial colorectal cancer. Mutagenesis 2012; 27: 239-245.
29. Vasen HF, Stormorken A, Menko FH, et al.: MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: A study of hereditary nonpolyposis colorectal cancer families. J Clin Oncol 2001; 19: 4074-4080. (Pubitemid 32976695)
30. Vogelstein B, Fearon ER, Hamilton SR, et al.: Genetic alterations during colorectal-tumor development. N Engl J Med 1988; 319: 525-532.
31. Watson P, Lin KM, Rodriguez-Bigas MA, et al.: Colorectal carcinoma survival among hereditary nonpolyposis colorectal carcinoma family members. Cancer 1998; 83: 259-266. (Pubitemid 28317805)
32. Watson P, Riley B:, The tumor spectrum in the lynch syndrome. Fam Cancer 2005; 4: 245-248. (Pubitemid 41242194)
33. Watson P, Vasen HF, Mecklin JP, et al.: The risk of extra-colonic, extra-endometrial cancer in the lynch syndrome. Int J Cancer 2008; 123: 444-449. (Pubitemid 351842032)