Extracolonic manifestations of lynch syndrome

Clinics in Colon and Rectal Surgery

Volumn 25, Issue 2, 2012, Pages 103-110

  Bansidhar, Brian J ^a  

^a Saint Vincent Health Center   (United States)

Author keywords

atypical phenotype; extracolonic malignancies; Lynch syndrome; mismatch repair genes

Indexed keywords

EID: 84861623208     PISSN: 15310043     EISSN: 15309681     Source Type: Journal    
DOI: 10.1055/s-0032-1313781     Document Type: Article

References (50)

1. Ponz de Leon M, Bertario L, Genuardi M., et al. Report from the Italian Association for the Study of Hereditary Colorectal Tumors Consensus Group Identification and classification of hereditary nonpolyposis colorectal cancer (Lynch syndrome): adapting old concepts to recent advancements. Report from the Italian Association for the study of Hereditary Colorectal Tumors Consensus Group. Dis Colon Rectum: 2007; 50 12 2126 2134 (Pubitemid 350275871)
2. 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 4 428 433 (Pubitemid 28169667)
3. Vasen HFA, Offerhaus GJ, den Hartog Jager FC., et al. The tumor spectrum in HNPCC: a study of 24 kindred in the Netherlands. Int J Cancer: 1990; 46 31 34
4. da Silva FC, de Oliveira LP, Santos EM., et al. Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry. Fam Cancer: 2010; 9 4 563 570
5. Watson P, Lynch HT. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer: 1993; 71 3 677 685 (Pubitemid 23051366)
6. Akiyama Y, Sato H, Yamada T., et al. Germline mutation of the hMSH6 gene in an atypical hereditary non-polyposis colorectal cancer kindred. Clin Cancer Res: 1997; 57 3920 3923 (Pubitemid 27427676)
7. Park YJ, Shin KH, Park JG. Risk of gastric cancer in hereditary nonpolyposis colorectal cancer in Korea. Clin Cancer Res: 2000; 6 8 2994 2998 (Pubitemid 30637720)
8. Suchy J, Cybulski C, Wokoorczyk D., et al. CHEK2 mutations and HNPCC-related colorectal cancer. Int J Cancer: 2010; 126 12 3005 3009
9. Risinger JI, Barrett JC, Watson P, Lynch HT, Boyd J. Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the hereditary nonpolyposis colorectal carcinoma syndrome. Cancer: 1996; 77 9 1836 1843 (Pubitemid 26125184)
10. Jensen UB, Sunde L, Timshel S., et al. Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome. Breast Cancer Res Treat: 2010; 120 3 777 782
11. Boyd J, Rhei E, Federici MG., et al. Male breast cancer in the hereditary nonpolyposis colorectal cancer syndrome. Breast Cancer Res Treat: 1999; 53 1 87 91 (Pubitemid 29123623)
12. Scott RJ, McPhillips M, Meldrum CJ., et al. Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds. Am J Hum Genet: 2001; 68 1 118 127 (Pubitemid 32048366)
13. Vasen HFA, Morreau H, Nortier JWR. Is breast cancer part of the tumor spectrum of hereditary nonpolyposis colorectal cancer? Am J Hum Genet: 2001; 68 6 1533 1535 (Pubitemid 32510631)
14. Cybulski C, Górski B, Huzarski T., et al. CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet: 2004; 75 6 1131 1135 (Pubitemid 39532081)
15. Meijers-Heijboer H, Wijnen J, Vasen H., et al. The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet: 2003; 72 5 1308 1314 (Pubitemid 36530019)
16. Wasielewski M, Vasen H, Wijnen J., et al. CHEK2 1100delC is a susceptibility allele for HNPCC-related colorectal cancer. Clin Cancer Res: 2008; 14 15 4989 4994
17. Lenz DL, Harpster LE. Urothelial carcinoma in a man with hereditary nonpolyposis colon cancer. Rev Urol: 2003; 5 1 49 53
18. Valenzuela CD, Moore HG, Huang WC., et al. Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: case report. World J Surg Oncol: 2009; 7 94. Available at http://www.wjso.com/content/7/1/97
19. Goecke T, Schulmann K, Engel C., et al. German HNPCC Consortium 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 26 4285 4292 (Pubitemid 46630786)
20. Watson P, Vasen HFA, Mecklin JP., et al. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer: 2008; 123 2 444 449 (Pubitemid 351842032)
21. Wagner A, Hendriks Y, Meijers-Heijboer EJ., et al. Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. J Med Genet: 2001; 38 5 318 322 (Pubitemid 32433985)
22. Kastrinos F, Stoffel EM, Balmaña J, Steyerberg EW, Mercado R, Syngal S. 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 8 2044 2051
23. Gylling AHS, Nieminen TT, Abdel-Rahman WM., et al. Differential cancer predisposition in Lynch syndrome: insights from molecular analysis of brain and urinary tract tumors. Carcinogenesis: 2008; 29 7 1351 1359
24. Rouprêt M, Yates DR, Comperat E, Cussenot O. Upper urinary tract urothelial cell carcinomas and other urological malignancies involved in the hereditary nonpolyposis colorectal cancer (Lynch syndrome) tumor spectrum. Eur Urol: 2008; 54 6 1226 1236
25. Grindedal EM, Moller P, Eeles R., et al. Germ-line mutations in mismatch repair genes associated with prostate cancer. Cancer Epidemiol Biomarkers Prev: 2009; 18 9 2460 2467
26. Kilpivaara AP, Vahteristo P., et al. CHEK2 I157T Associates with familial and sporadic colorectal cancer. J Med Genet: 2006; 43 e34
27. Kohlmann W, Gruber SB. Lynch syndrome. Gene reviews. Bethesda, MD National Center Biotechnology Information: 2011
28. Kastrinos F, Mukherjee B, Tayob N., et al. Risk of pancreatic cancer in families with Lynch syndrome. JAMA: 2009; 302 16 1790 1795
29. Wolff BG, Fleshman JW, Beck DE., et al. The ASCRS Textbook of Colon and Rectal Surgery. New York, NY Springer: 2007; 525 542
30. Song YM, Zheng S. Analysis for phenotype of HNPCC in China. World J Gastroenterol: 2002; 8 5 837 840
31. Aarnio M, Mecklin JP, Aaltonen LA, Nyström-Lahti M, Järvinen HJ. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer: 1995; 64 6 430 433 (Pubitemid 26048907)
32. Barrow E, Robinson L, Alduaij W., et al. Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. Clin Genet: 2009; 75 2 141 149
33. Roa JC, Roa I, Correa P., et al. Microsatellite instability in preneoplastic and neoplastic lesions of the gallbladder. J Gastroenterol: 2005; 40 1 79 86 (Pubitemid 40796336)
34. ten Kate GL, Kleibeuker JH, Nagengast FM., et al. Is surveillance of the small bowel indicated for Lynch syndrome families? Gut: 2007; 56 9 1198 1201 (Pubitemid 47300418)
35. Schulmann K, Brasch FE, Kunstmann E., et al. German HNPCC Consortium HNPCC-associated small bowel cancer: clinical and molecular characteristics. Gastroenterology: 2005; 128 3 590 599 (Pubitemid 40585360)
36. Aarnio M, Sankila R, Pukkala E., et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer: 1999; 81 2 214 218 (Pubitemid 29144749)
37. Vasen HFA, 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 20 4074 4080
38. Murphy HR, Armstrong R, Cairns D, Greenhalgh KL. Muir-Torre syndrome: expanding the genotype and phenotypea further family with a MSH6 mutation. Fam Cancer: 2008; 7 3 255 257
39. Lynch HT, Lynch PM, Pester J, Fusaro RM. The cancer family syndrome. Rare cutaneous phenotypic linkage of Torre's syndrome. Arch Intern Med: 1981; 141 5 607 611
40. Czakó L, Tiszlavicz L, Takács R., et al. [The first molecular analysis of a Hungarian HNPCC family: a novel MSH2 germline mutation]. Orv Hetil: 2005; 146 20 1009 1016
41. Hitchins MP, Ward RL. Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J Med Genet: 2009; 46 12 793 802
42. Hangaishi A, Ogawa S, Mitani K., et al. Mutations and loss of expression of a mismatch repair gene, hMLH1, in leukemia and lymphoma cell lines. Blood: 1997; 89 5 1740 1747
43. Pineda M, Castellsagué E, Musulén E., et al. Non-Hodgkin lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in the MSH2 gene. Genes Chromosomes Cancer: 2008; 47 4 Issue 4 326 332 (Pubitemid 351323762)
44. Hirano K, Yamashita K, Yamashita N., et al. Non-Hodgkin's lymphoma in a patient with probable hereditary nonpolyposis colon cancer: report of a case and review of the literature. Dis Colon Rectum: 2002; 45 2 273 279
45. Peled JU, Sellers RS, Iglesias-Ussel MD., et al. Msh6 protects mature B cells from lymphoma by preserving genomic stability. Am J Pathol: 2010; 177 5 2597 2608
46. Lucci-Cordisco E, Rovella V, Carrara S., et al. Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer. Fam Cancer: 2001; 1 2 93 99
47. Edelmann W, Yang K, Umar A., et al. Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. Cell: 1997; 91 4 467 477
48. Nilbert M, Therkildsen C, Nissen A, Akerman M, Bernstein I. Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum. Fam Cancer: 2009; 8 3 209 213
49. Brieger A, Engels K, Schaefer D., et al. Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in two German families. Familial Cancer: 2011; 10 3 591 595
50. Medina Arana V, Barrios del Pino Y, García-Castro C, González-Aguilera JJ, Fernández-Peralta A, González Hermoso F. Highly aggressive leiomyosarcoma associated with Lynch II syndrome: increasing the range of extracolonic cancers related with hereditary non-polyposis colonic cancer. Ann Oncol: 2002; 13 5 807 808 (Pubitemid 34567392)