Impact of genetic testing on endometrial cancer risk-reducing practices in women at risk for Lynch syndrome

Gynecologic Oncology

Volumn 127, Issue 3, 2012, Pages 544-551

  Yurgelun, Matthew B ^a,b,f   Mercado, Rowena ^b   Rosenblatt, Margery ^b   Dandapani, Monica ^b   Kohlmann, Wendy ^c   Conrad, Peggy ^d   Blanco, Amie ^d   Shannon, Kristen M ^e   Chung, Daniel C ^e,f   Terdiman, Jonathan ^d   Gruber, Stephen B ^g   Garber, Judy E ^b,f   Syngal, Sapna ^b,f,h   Stoffel, Elena M ^c  

^a BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f HARVARD MEDICAL SCHOOL   (United States)

^g UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^h BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

Endometrial cancer screening; Genetic testing; Lynch syndrome; Prophylactic hysterectomy

Indexed keywords

ADULT; CANCER EPIDEMIOLOGY; CANCER RISK; COHORT ANALYSIS; CONFERENCE PAPER; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; ENDOMETRIUM CANCER; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HEALTH BEHAVIOR; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYSTERECTOMY; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MEDICAL PRACTICE; MISMATCH REPAIR; OUTCOME ASSESSMENT; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROPHYLACTIC HYSTERECTOMY; QUESTIONNAIRE; RISK REDUCTION;

ADULT; AGED; COHORT STUDIES; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; CROSS-SECTIONAL STUDIES; DNA MISMATCH REPAIR; ENDOMETRIAL NEOPLASMS; FEMALE; GENETIC TESTING; HUMANS; HYSTERECTOMY; MIDDLE AGED; RISK;

EID: 84868592894     PISSN: 00908258     EISSN: 10956859     Source Type: Journal    
DOI: 10.1016/j.ygyno.2012.08.031     Document Type: Conference Paper

References (46)

1. E. Stoffel, B. Mukherjee, V.M. Raymond, N. Tayob, F. Kastrinos, and J. Sparr Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome Gastroenterology 137 2009 1621 1627
2. M. Aarnio, J.P. Mecklin, L.A. Aaltonen, M. Nystrom-Lahti, and H.J. Jarvinen Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome Int J Cancer 64 1995 430 433
3. C.R. Boland, and M. Shike Report from the Jerusalem workshop on Lynch syndrome-hereditary nonpolyposis colorectal cancer Gastroenterology 138 2010 2197.e1 2197.e7
4. M.G. Dunlop, S.M. Farrington, A.D. Carothers, A.H. Wyllie, L. Sharp, and J. Burn Cancer risk associated with germline DNA mismatch repair gene mutations Hum Mol Genet 6 1997 105 110
5. H.J. Jarvinen, L. Renkonen-Sinisalo, K. Aktan-Collan, P. Peltomaki, L.A. Aaltonen, and J.P. Mecklin Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members J Clin Oncol 27 2009 4793 4797
6. H. Hampel, and A. de la Chapelle The search for unaffected individuals with Lynch syndrome: do the ends justify the means? Cancer Prev Res (Phila) 4 2011 1 5
7. R. Fishel, M.K. Lescoe, M.R. Rao, N.G. Copeland, N.A. Jenkins, and J. Garber The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer Cell 75 1993 1027 1038
8. N.C. Nicolaides, N. Papadopoulos, B. Liu, Y.F. Wei, K.C. Carter, and S.M. Ruben Mutations of two PMS homologues in hereditary nonpolyposis colon cancer Nature 371 1994 75 80
9. M. Miyaki, M. Konishi, K. Tanaka, R. Kikuchi-Yanoshita, M. Muraoka, and M. Yasuno Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer Nat Genet 17 1997 271 272
10. Y. Akiyama, H. Sato, T. Yamada, H. Nagasaki, A. Tsuchiya, and R. Abe Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred Cancer Res 57 1997 3920 3923
11. M.J. Ligtenberg, R.P. Kuiper, T.L. Chan, M. Goossens, K.M. Hebeda, and M. Voorendt Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1 Nat Genet 41 2009 112 117
12. C.E. Bronner, S.M. Baker, P.T. Morrison, G. Warren, L.G. Smith, and M.K. Lescoe Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer Nature 368 1994 258 261
13. H. Hampel, J. Panescu, J. Lockman, K. Sotamaa, D. Fix, and I. Comeras Comment on: screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients Cancer Res 67 2007 9603
14. M. Aarnio, R. Sankila, E. Pukkala, R. Salovaara, L.A. Aaltonen, and A. de la Chapelle Cancer risk in mutation carriers of DNA-mismatch-repair genes Int J Cancer 81 1999 214 218
15. V. Bonadona, B. Bonaiti, S. Olschwang, S. Grandjouan, L. Huiart, and M. Longy Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome JAMA 305 2011 2304 2310
16. H.F. Vasen, G. Moslein, A. Alonso, I. Bernstein, L. Bertario, and I. Blanco Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer) J Med Genet 44 2007 353 362
17. N.M. Lindor, G.M. Petersen, D.W. Hadley, A.Y. Kinney, S. Miesfeldt, and K.H. Lu Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review JAMA 296 2006 1507 1517
18. W. Burke, G. Petersen, P. Lynch, J. Botkin, M. Daly, and J. Garber Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium JAMA 277 1997 915 919
19. D.W. Hadley, J.F. Jenkins, S.M. Steinberg, D. Liewehr, S. Moller, and J.C. Martin Perceptions of cancer risks and predictors of colon and endometrial cancer screening in women undergoing genetic testing for Lynch syndrome J Clin Oncol 26 2008 948 954
20. A. Umar, C.R. Boland, J.P. Terdiman, S. Syngal, A. de la Chapelle, and J. Ruschoff Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability J Natl Cancer Inst 96 2004 261 268
21. E.M. Stoffel, R.C. Mercado, W. Kohlmann, B. Ford, S. Grover, and P. Conrad Prevalence and predictors of appropriate colorectal cancer surveillance in Lynch syndrome Am J Gastroenterol 105 2010 1851 1860
22. H.F. Vasen, J.P. Mecklin, P.M. Khan, and H.T. Lynch The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) Dis Colon Rectum 34 1991 424 425
23. H.F. Vasen, P. Watson, J.P. Mecklin, and H.T. Lynch New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC Gastroenterology 116 1999 1453 1456
24. N.D. Kauff, J.M. Satagopan, M.E. Robson, L. Scheuer, M. Hensley, and C.A. Hudis Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation N Engl J Med 346 2002 1609 1615
25. A. Finch, M. Beiner, J. Lubinski, H.T. Lynch, P. Moller, and B. Rosen Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation JAMA 296 2006 185 192
26. S.M. Domchek, T.M. Friebel, C.F. Singer, D.G. Evans, H.T. Lynch, and C. Isaacs Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality JAMA 304 2010 967 975
27. N. Tung Management of women with BRCA mutations: a 41-year-old woman with a BRCA mutation and a recent history of breast cancer JAMA 305 2011 2211 2220
28. T.R. Rebbeck, H.T. Lynch, S.L. Neuhausen, S.A. Narod, L. Van't Veer, and J.E. Garber Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations N Engl J Med 346 2002 1616 1622
29. B.B. Hermsen, R.I. Olivier, R.H. Verheijen, M. van Beurden, J.A. de Hullu, and L.F. Massuger No efficacy of annual gynaecological screening in BRCA1/2 mutation carriers; an observational follow-up study Br J Cancer 96 2007 1335 1342
30. N.D. Kauff, S.M. Domchek, T.M. Friebel, M.E. Robson, J. Lee, and J.E. Garber Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study J Clin Oncol 26 2008 1331 1337
31. M.D. Schwartz, C. Isaacs, K.D. Graves, E. Poggi, B.N. Peshkin, and C. Gell Long-term outcomes of BRCA1/BRCA2 testing: risk reduction and surveillance Cancer 118 2012 510 517
32. A.B. Skytte, A.M. Gerdes, M.K. Andersen, L. Sunde, K. Brondum-Nielsen, and M. Waldstrom Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing Clin Genet 77 2010 342 349
33. V. Collins, B. Meiser, C. Gaff, D.J.B. St. John, and J. Halliday Screening and preventive behaviors one year after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma Cancer 104 2005 273 281
34. I. Dove-Edwin, D. Boks, S. Goff, G.G. Kenter, R. Carpenter, and H.F. Vasen The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma Cancer 94 2002 1708 1712
35. L. Renkonen-Sinisalo, R. Butzow, A. Leminen, P. Lehtovirta, J.P. Mecklin, and H.J. Jarvinen Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome Int J Cancer 120 2007 821 824
36. F.E. Rijcken, M.J. Mourits, J.H. Kleibeuker, H. Hollema, and A.G. van der Zee Gynecologic screening in hereditary nonpolyposis colorectal cancer Gynecol Oncol 91 2003 74 80
37. F. Lecuru, M.A. Le Frere Belda, A.S. Bats, L. Tulpin, U. Metzger, and S. Olschwang Performance of office hysteroscopy and endometrial biopsy for detecting endometrial disease in women at risk of human non-polyposis colon cancer: a prospective study Int J Gynecol Cancer 18 2008 1326 1331
38. L.H. Gerritzen, N. Hoogerbrugge, A.L. Oei, F.M. Nagengast, M.A. van Ham, and L.F. Massuger Improvement of endometrial biopsy over transvaginal ultrasound alone for endometrial surveillance in women with Lynch syndrome Fam Cancer 8 2009 391 397
39. F. Lecuru, C. Huchon, U. Metzger, A.S. Bats, M.A. Le Frere Belda, and S. Olschwang Contribution of ultrasonography to endometrial cancer screening in patients with hereditary nonpolyposis colorectal cancer/Lynch syndrome Int J Gynecol Cancer 20 2010 583 587
40. A. Auranen, and T. Joutsiniemi A systematic review of gynecological cancer surveillance in women belonging to hereditary nonpolyposis colorectal cancer (Lynch syndrome) families Acta Obstet Gynecol Scand 90 2011 437 444
41. R.W. Burt, J.S. Barthel, K.B. Dunn, D.S. David, E. Drelichman, and J.M. Ford NCCN clinical practice guidelines in oncology. Colorectal cancer screening J Natl Compr Canc Netw 8 2010 8 61
42. K.M. Schmeler, H.T. Lynch, L.M. Chen, M.F. Munsell, P.T. Soliman, and M.B. Clark Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome N Engl J Med 354 2006 261 269
43. K.M. Schmeler, M.S. Daniels, P.T. Soliman, R.R. Broaddus, M.T. Deavers, and T.M. Vu Primary peritoneal cancer after bilateral salpingo-oophorectomy in two patients with Lynch syndrome Obstet Gynecol 115 2010 432 434
44. K.Y. Yang, A.B. Caughey, S.E. Little, M.K. Cheung, and L.M. Chen A cost-effectiveness analysis of prophylactic surgery versus gynecologic surveillance for women from hereditary non-polyposis colorectal cancer (HNPCC) families Fam Cancer 10 2011 535 543
45. J.S. Kwon, C.C. Sun, S.K. Peterson, K.G. White, M.S. Daniels, and S.G. Boyd-Rogers Cost-effectiveness analysis of prevention strategies for gynecologic cancers in Lynch syndrome Cancer 113 2008 326 335
46. N.M. Lindor, K. Rabe, G.M. Petersen, R. Haile, G. Casey, and J. Baron Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X JAMA 293 2005 1979 1985