Lynch syndrome

Clinical Obstetrics and Gynecology

Volumn 54, Issue 2, 2011, Pages 199-214

  Backes, Floor J ^a   Cohn, David E ^a  

^a THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

endometrial cancer; Hereditary Nonpolyposis Colorectal cancer; Lynch syndrome; mismatch repair genes; ovarian cancer; prevention; screening

Indexed keywords

DNA; LEVONORGESTREL; MEDROXYPROGESTERONE; MISMATCH REPAIR PROTEIN; MLH3 PROTEIN; ORAL CONTRACEPTIVE AGENT; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH3; PROTEIN MSH6; UNCLASSIFIED DRUG;

ANAMNESIS; ARTICLE; CANCER PREVENTION; CANCER RISK; CANCER SCREENING; CANCER TISSUE; COLONOSCOPY; COLORECTAL CANCER; ENDOMETRIUM CANCER; FAMILY HISTORY; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; GYNECOLOGIC CANCER; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HISTORY OF MEDICINE; HUMAN; HYSTERECTOMY; IMMUNOHISTOCHEMISTRY; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; ONSET AGE; OVARY CANCER; PRACTICE GUIDELINE; PROGNOSIS; PROTEIN METHYLATION; RISK REDUCTION; SALPINGOOOPHORECTOMY; TRANSVAGINAL ECHOGRAPHY;

COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; EARLY DETECTION OF CANCER; ENDOMETRIAL NEOPLASMS; FEMALE; HUMANS; OVARIAN NEOPLASMS;

EID: 79955557751     PISSN: 00099201     EISSN: 15325520     Source Type: Journal    
DOI: 10.1097/GRF.0b013e3182185a41     Document Type: Article

References (56)

1. Douglas JA, Gruber SB, Meister KA, et al. History and molecular genetics of Lynch syndrome in family G: a century later. JAMA. 2005;294:2195-2202. (Pubitemid 41571137)
2. Wijnen J, de Leeuw W, Vasen H, et al. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet. 1999;23:142-144. (Pubitemid 29455383)
3. Lu KH, Schorge JO, Rodabaugh KJ, et al. Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer. J Clin Oncol. 2007;25:5158-5164. (Pubitemid 350232246)
4. Aarnio M, Sankila R, Pukkala E, et al. Cancer risk in mutation carriers of DNAmismatch-repair genes. Int J Cancer. 1999;81:214-218. (Pubitemid 29144749)
5. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med. 2003; 348:919-932. (Pubitemid 36298000)
6. Broaddus RR, Lynch HT, Chen LM, et al. Pathologic features of endometrial carcinoma associated with HNPCC: a comparison with sporadic endometrial carcinoma. Cancer. 2006;106:87-94. (Pubitemid 43032552)
7. South SA, Hutton M, Farrell C, et al. Uterine carcinosarcoma associated with hereditary nonpolyposis colorectal cancer. Obstet Gynecol. 2007;110(2 Pt 2): 543-545. (Pubitemid 47417759)
8. Lynch HT, Harris RE, Lynch PM, et al. Role of heredity in multiple primary cancer. Cancer. 1977;40(4 suppl):1849-1854. (Pubitemid 8216956)
9. Mecklin JP, Jarvinen HJ.Clinical features of colorectal carcinoma in cancer family syndrome. DisColon Rectum. 1986;29:160-164. (Pubitemid 16124067)
10. Lu KH, Dinh M, Kohlmann W, et al. Gynecologic cancer as a "sentinel cancer" for women with hereditary nonpolyposis colorectal cancer syndrome. Obstet Gynecol. 2005;105:569-574. (Pubitemid 40271224)
11. Hendriks YM, Wagner A, Morreau H, et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology. 2004;127:17-25. (Pubitemid 38962270)
12. Stoffel E, Mukherjee B, Raymond VM, et al. Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology. 2009; 137:1621-1627.
13. Baglietto L, Lindor NM, Dowty JG, et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst. 2010;102:193-201.
14. Jass JR, Cottier DS, Jeevaratnam P, et al. Diagnostic use of microsatellite instability in hereditary non-polyposis colorectal cancer. Lancet. 1995;346:1200-1201.
15. Kuismanen SA, Moisio AL, Schweizer P, et al. Endometrial and colorectal tumors from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability. Am J Pathol. 2002;160:1953-1958. (Pubitemid 34663387)
16. Ferreira AM,Westers H, Wu Y, et al. Do microsatellite instability profiles really differ between colorectal and endometrial tumors?. Genes Chromosomes Cancer. 2009;48:552-557.
17. Boland CR, Thibodeau SN, Hamilton SR, et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 1998;58:5248-5257. (Pubitemid 28521189)
18. Lindor NM, Burgart LJ, Leontovich O, et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol. 2002;20:1043-1048. (Pubitemid 34141849)
19. Engel C, Forberg J, Holinski-Feder E, et al. Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer. Int J Cancer. 2006;118:115-122. (Pubitemid 41681587)
20. Hampel H, Frankel W, Panescu J, et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2006;66:7810-7817. (Pubitemid 44289242)
21. Hampel H, Panescu J, Lockman J, et al. Comment on: screening for lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2007;67:9603. (Pubitemid 47535953)
22. de LeeuwWJ, Dierssen J, Vasen HF, et al. Prediction of a mismatch repair gene defect by microsatellite instability and immunohistochemical analysis in endometrial tumours from HNPCC patients. J Pathol. 2000;192:328-335.
23. Cunningham JM, Christensen ER, Tester DJ, et al. Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res. 1998;58:3455-3460. (Pubitemid 28371090)
24. Herman JG, Umar A, Polyak K, et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci U S A. 1998;95:6870-6875. (Pubitemid 28278073)
25. Gurin CC, Federici MG, Kang L, et al. Causes and consequences of microsatellite instability in endometrial carcinoma. Cancer Res. 1999;59:462-466. (Pubitemid 29048884)
26. Walsh CS, Blum A, Walts A, et al. Lynch syndrome among gynecologic oncology patients meeting Bethesda guidelines for screening. Gynecol Oncol. 2010;116: 516-521.
27. Syngal S, Fox EA, Eng C, et al. Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1. J Med Genet. 2000;37:641-645.
28. Vasen HF, Watson P, Mecklin JP, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;116: 1453-1456. (Pubitemid 29258894)
29. Ramsoekh D, Wagner A, van Leerdam ME, et al. A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. Gut. 2008;57:1539-1544.
30. Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst. 1997;89: 1758-1762.
31. Balmana J, StockwellDH, SteyerbergEW, et al. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA. 2006;296:1469-1478. (Pubitemid 44465511)
32. Chen S, WangW, Lee S, et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA. 2006;296: 1479-1487. (Pubitemid 44465512)
33. Barnetson RA, Tenesa A, Farrington SM, et al. Identification and survival of carriers of mutations in DNA mismatchrepair genes in colon cancer. N Engl J Med. 2006;354:2751-2763. (Pubitemid 43974193)
34. Hampel H, Frankel WL, Martin E, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol. 2008;26: 5783-5788.
35. Vasen HF, Hendriks Y, de Jong AE, et al. Identification of HNPCC by molecular analysis of colorectal and endometrial tumors. Dis Markers. 2004;20:207-213. (Pubitemid 40164093)
36. Salahshor S, Koelble K, Rubio C, et al. Microsatellite Instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer. Lab Invest. 2001;81:535-541. (Pubitemid 32298799)
37. 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)
38. Kadyrov FA, Dzantiev L, Constantin N, et al. Endonucleolytic function of MutLalpha in human mismatch repair. Cell. 2006;126:297-308. (Pubitemid 44092957)
39. Matthews KS, Estes JM, Conner MG, et al. Lynch syndrome in women less than 50 years of age with endometrial cancer. Obstet Gynecol. 2008;111:1161-1166. (Pubitemid 351620352)
40. Backes FJ, Leon ME, Ivanov I, et al. Prospective evaluation of DNA mismatch repair protein expression in primary endometrial cancer. Gynecol Oncol. 2009;114:486-490.
41. Resnick K, Straughn JM Jr, Backes F, et al. Lynch syndrome screening strategies among newly diagnosed endometrial cancer patients. Obstet Gynecol. 2009; 114:530-536.
42. Cohn DE, Frankel WL, Resnick KE, et al. Improved survival with an intact DNAmismatch repair system in endometrial cancer. Obstet Gynecol. 2006;108: 1208-1215. (Pubitemid 44665417)
43. Wang Y, Xue F, Broaddus RR, et al. Clinicopathological features in endometrial carcinoma associated with Lynch syndrome in China. Int J Gynecol Cancer. 2009;19:651-656.
44. Resnick KE, Frankel WL, Morrison CD, et al.Mismatch repair status and outcomes after adjuvant therapy in patients with surgically staged endometrial cancer. Gynecol Oncol. 2010;117:234-238.
45. 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)
46. 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)
47. Grindedal EM, Renkonen-Sinisalo L, Vasen H, et al. Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds. J Med Genet. 2010;47:99-102.
48. Jarvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000;118:829-834. (Pubitemid 30243745)
49. Lindor NM, Petersen GM, Hadley DW, et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA. 2006;296:1507-1517. (Pubitemid 44465515)
50. Jarvinen HJ, Renkonen-Sinisalo L, Aktan-Collan K, et al. Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members. J ClinOncol. 2009;27:4793-4797.
51. Dove-Edwin I, Boks D, Goff S, et al. The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma. Cancer. 2002;94:1708-1712. (Pubitemid 34241108)
52. Rijcken FE,Mourits MJ, Kleibeuker JH, et al. Gynecologic screening in hereditary nonpolyposis colorectal cancer. Gynecol Oncol. 2003;91:74-80. (Pubitemid 37188596)
53. Karlan BY, Berchuck A, Mutch D. The role of genetic testing for cancer susceptibility in gynecologic practice. Obstet Gynecol. 2007;110:155-167. (Pubitemid 47015715)
54. Schmeler KM, Lynch HT, Chen LM, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med. 2006; 354:261-269. (Pubitemid 43113031)
55. Chen LM, Yang KY, Little SE, et al. Gynecologic cancer prevention in Lynch syndrome/hereditary nonpolyposis colorectal cancer families. Obstet Gynecol. 2007;110:18-25. (Pubitemid 47015695)
56. Kwon JS, Sun CC, Peterson SK, et al. Cost-effectiveness analysis of prevention strategies for gynecologic cancers in Lynch syndrome. Cancer. 2008;113: 326-335.