Management of ovarian and endometrial cancers in women belonging to HNPCC carrier families: Review of the literature and results of cancer risk assessment in Polish HNPCC families

Hereditary Cancer in Clinical Practice

Volumn 13, Issue 1, 2015, Pages

  Debniak, Tadeusz ^a   Gromowski, Tomasz ^a   Scott, Rodney J ^b   Gronwald, Jacek ^a   Huzarski, Tomasz ^a   Byrski, Tomasz ^a   Kurzawski, Grzegorz ^a   Dymerska, Dagmara ^a   Górski, Bohdan ^a   Paszkowska Szczur, Katarzyna ^a   Cybulski, Cezary ^a   Serrano Fernandez, Pablo ^a   Lubinski, Jan ^a  

^a POMERANIAN MEDICAL UNIVERSITY   (Poland)

^b UNIVERSITY OF NEWCASTLE   (Australia)

Author keywords

Adnexectomy; Endometrial cancer; HNPCC; Lynch syndrome; Ovarian cancer

Indexed keywords

MISMATCH REPAIR PROTEIN;

AGE; ARTICLE; CANCER MORTALITY; CANCER RISK; CANCER SURVIVAL; ENDOMETRIUM CANCER; GENDER; GENE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOTE; HUMAN; MEDLINE; OVARY CANCER; RISK ASSESSMENT; STANDARDIZED INCIDENCE RATIO; SURVIVAL RATE; SURVIVAL TIME; SYSTEMATIC REVIEW;

EID: 84989182932     PISSN: 17312302     EISSN: 18974287     Source Type: Journal    
DOI: 10.1186/s13053-015-0025-2     Document Type: Article

References (60)

1. Aaltonen L, Johns L, Järvinen H, Mecklin JP, Houlston R. Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors. Clin Cancer Res. 2007;13:356-61.
2. Aarnio M. Clinicopathological features and management of cancers in lynch syndrome. Patholog Res Int. 2012;12:1-6.
3. Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell. 1993;75:1027-38.
4. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell. 1993;75:1215-25.
5. Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature. 1994;371:75-80.
6. Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, et al. Mutation of a mutL homolog in hereditary colon cancer. Science. 1994;263:1625-9.
7. Tutlewska K, Lubinski J, Kurzawski G. Germline deletions in the EPCAM gene as a cause of Lynch syndrome-literature review. Hered Cancer Clin Pract. 2013;11:9.
8. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med. 2003;348:919-32.
9. Watson P, Vasen HF, Mecklin JP, Bernstein I, Aarnio M, Järvinen HJ, et al. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer. 2008;123:444-9.
10. Lin-Hurtubise KM, Yheulon CG, Gagliano Jr RA, Lynch HT. Excess of extracolonic non-endometrial multiple primary cancers in MSH2 germline mutation carriers over MLH1. J Surg Oncol. 2013;108:433-7.
11. Vasen HF, Blanco I, Aktan-Collan K, Gopie JP, Alonso A, Aretz S, et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut. 2013;62:812-23.
12. Järvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomäki P, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000;118:829-34.
13. Pylvänäinen K, Lehtinen T, Kellokumpu I, Järvinen H, Mecklin JP. Causes of death of mutation carriers in Finnish Lynch syndrome families. Fam Cancer. 2012;11:467-71.
14. Wojciechowska U, Didkowska J, Zatonski W. Cancer in Poland in 2010. Warsaw: The Maria-Sklodowska-Curie Memorial Cancer Center, Department of Epidemiology and cancer Prevention, Polish National Cancer Registry; 2012.
15. Pande M, Wei C, Chen J, Amos CI, Lynch PM, Lu KH, et al. Cancer spectrum in DNA mismatch repair gene mutation carriers: results from a hospital based Lynch syndrome registry. Fam Cancer. 2012;11:441-7.
16. Engel C, Loeffler M, Steinke V, Rahner N, Holinski-Feder E, Dietmaier W, et al. Risks of less common cancers in proven mutation carriers with lynch syndrome. J Clin Oncol. 2012;30:4409-15.
17. Watson P, Bützow R, Lynch HT, Mecklin JP, Järvinen HJ, Vasen HF, et al. The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer. Gynecol Oncol. 2001;82:223-8.
18. Hampel H, Stephens JA, Pukkala E, Sankila R, Aaltonen LA, Mecklin JP, et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology. 2005;129:415-21.
19. Barrow E, Robinson L, Alduaij W, Shenton A, Clancy T, Lalloo F, et al. Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. Clin Genet. 2009;75:141-9.
20. Stuckless S, Parfrey PS, Woods MO, Cox J, Fitzgerald GW, Green JS, et al. The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome. Fam Cancer. 2007;6:1-12.
21. 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;64:430-3.
22. Quehenberger F, Vasen HF, van Houwelingen HC. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet. 2005;42:491-6.
23. Ketabi Z, Gerdes AM, Mosgaard B, Ladelund S, Bernstein I. The results of gynecologic surveillance in families with hereditary nonpolyposis colorectal cancer. Gynecol Oncol. 2014;133:526-30.
24. Auranen A, Joutsiniemi T. A systematic review of gynecological cancer surveillance in women belonging to hereditary nonpolyposis colorectal cancer (Lynch syndrome) families. Acta Obstet Gynecol Scand. 2011;90:437-44.
25. Barrow PJ, Ingham S, O'Hara C, Green K, McIntyre I, Lalloo F, et al. The spectrum of urological malignancy in Lynch syndrome. Fam Cancer. 2013;12:57-63.
26. Rodriguez-Bigas MA, Möeslein G. Surgical treatment of hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome). Fam Cancer. 2013;12:295-300.
27. Hendriks YM, Wagner A, Morreau H, Menko F, Stormorken A, Quehenberger F, et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology. 2004;127:17-25.
28. Crijnen TE, Janssen-Heijnen ML, Gelderblom H, Morreau J, Nooij MA, Kenter GG, et al. Survival of patients with ovarian cancer due to a mismatch repair defect. Fam Cancer. 2005;4:301-5.
29. Grindedal EM, Renkonen-Sinisalo L, Vasen H, Evans G, Sala P, Blanco I, 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.
30. Chui MH, Ryan P, Radigan J, Ferguson SE, Pollett A, Aronson M, et al. The histomorphology of Lynch syndrome-associated ovarian carcinomas: toward a subtype-specific screening strategy. Am J Surg Pathol. 2014;38:1173-81.
31. Niskakoski A, Kaur S, Renkonen-Sinisalo L, Lassus H, Järvinen HJ, Mecklin JP, et al. Distinct molecular profiles in Lynch syndrome-associated and sporadic ovarian carcinomas. Int J Cancer. 2013;133:2596-608.
32. Karlan BY, Platt LD. Ovarian cancer screening. The role of ultrasound in early detection. Cancer. 1995;76:2011-5.
33. Lindor NM, Petersen GM, Hadley DW, Kinney AY, Miesfeldt S, Lu KH, et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA. 2006;296:1507-17.
34. Schmeler KM, Lu KH. Gynecologic cancers associated with Lynch syndrome/HNPCC. Clin Transl Oncol. 2008;10:313-7.
35. Meyer LA, Broaddus RR, Lu KH. Endometrial cancer and Lynch syndrome: clinical and pathologic considerations. Cancer Control. 2009;16:14-22.
36. Wang J, Gao J, Yao H, Wu Z, Wang M, Qi J. Diagnostic accuracy of serum HE4, CA125 and ROMA in patients with ovarian cancer: a meta-analysis. Tumour Biol. 2014;35:6127-38.
37. Ghasemi N, Ghobadzadeh S, Zahraei M, Mohammadpour H, Bahrami S, Ganje MB, et al. HE4 combined with CA125: favorable screening tool for ovarian cancer. Med Oncol. 2014;31:808.
38. Gerritzen LH, Hoogerbrugge N, Oei AL, Nagengast FM, van Ham MA, Massuger LF, et al. Improvement of endometrial biopsy over transvaginal ultrasound alone for endometrial surveillance in women with Lynch syndrome. Fam Cancer. 2009;8:391-7.
39. Rijcken FE, Mourits MJ, Kleibeuker JH, Hollema H, van der Zee AG. Gynecologic screening in hereditary nonpolyposis colorectal cancer. Gynecol Oncol. 2003;91:74-80.
40. Dove-Edwin I, Boks D, GoffS, Kenter GG, Carpenter R, Vasen HF, 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;94:1708-12.
41. Renkonen-Sinisalo L, Bützow R, Leminen A, Lehtovirta P, Mecklin JP, Järvinen HJ. Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome. Int J Cancer. 2007;120:821-4.
42. Stuckless S, Green J, Dawson L, Barrett B, Woods MO, Dicks E, et al. Impact of gynecological screening in Lynch syndrome carriers with an MSH2 mutation. Clin Genet. 2013;83:359-64.
43. Schmeler KM, Lynch HT, Chen LM, Munsell MF, Soliman PT, Clark MB, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med. 2006;354:261-9.
44. Yang KY, Caughey AB, Little SE, Cheung MK, Chen LM. A cost-effectiveness analysis of prophylactic surgery versus gynecologic surveillance for women from hereditary non-polyposis colorectal cancer (HNPCC) Families. Fam Cancer. 2011;10:535-43.
45. Kwon JS, Sun CC, Peterson SK, White KG, Daniels MS, Boyd-Rogers SG, et al. Cost-effectiveness analysis of prevention strategies for gynecologic cancers in Lynch syndrome. Cancer. 2008;113:326-35.
46. Chen LM, Yang KY, Little SE, Cheung MK, Caughey AB. Gynecologic cancer prevention in Lynch syndrome/hereditary nonpolyposis colorectal cancer families. Obstet Gynecol. 2007;110:18-25.
47. Schmeler KM, Daniels MS, Soliman PT, Broaddus RR, Deavers MT, Vu TM, et al. Primary peritoneal cancer after bilateral salpingo-oophorectomy in two patients with Lynch syndrome. Obstet Gynecol. 2010;115:432-4.
48. Ghezzi F, Uccella S, Cromi A, Bogani G, Donadello N, Riva C. Primary peritoneal cancer in Lynch syndrome: a clinical-pathologic report of a case and analysis of the literature. Int J Gynecol Pathol. 2013;32:163-6.
49. Rebbeck TR, Lynch HT, Neuhausen SL, Narod SA, Van't Veer L, Garber JE, et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engel J Med. 2002;346:1616-22.
50. KauffND, Satagopan JM, Robson ME, Scheuer L, Hensley M, Hudis CA, et al. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med. 2002;346:1609-15.
51. Finch AP, Lubinski J, Møller P, Singer CF, Karlan B, Senter L, et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2014;32:1547-53.
52. Chetrit A, Hirsh-Yechezkel G, Ben-David Y, Lubin F, Friedman E, Sadetzki S. Effect of BRCA1/2 mutations on long-term survival of patients with invasive ovarian cancer: the national Israeli study of ovarian cancer. J Clin Oncol. 2008;26:20-5.
53. Tan DS, Rothermundt C, Thomas K, Bancroft E, Eeles R, Shanley S, et al. "BRCAness" syndrome in ovarian cancer: a case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations. J Clin Oncol. 2008;26:5530-6.
54. Marcelis CL, van der Putten HW, Tops C, Lutgens LC, Moog U. Chemotherapy resistant ovarian cancer in carriers of an hMSH2 mutation? Fam Cancer. 2001;1:107-9.
55. Lécuru F, Le Frère Belda MA, Bats AS, Tulpin L, Metzger U, Olschwang S, et al. 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. 2008;18:1326-31.
56. Manchanda R, Saridogan E, Abdelraheim A, Johnson M, Rosenthal AN, Benjamin E, et al. Annual outpatient hysteroscopy and endometrial sampling (OHES) in HNPCC/Lynch syndrome (LS). Arch Gynecol Obstet. 2012;286:1555-62.
57. Helder-Woolderink JM, De Bock GH, Sijmons RH, Hollema H, Mourits MJ. The additional value of endometrial sampling in the early detection of endometrial cancer in women with Lynch syndrome. Gynecol Oncol. 2013;131:304-8.
58. Dijkhuizen FP, Mol BW, Brölmann HA, Heintz AP. The accuracy of endometrial sampling in the diagnosis of patients with endometrial carcinoma and hyperplasia: a meta-analysis. Cancer. 2000;89:1765-72.
59. Huang M, Sun C, Boyd-Rogers S, Burzawa J, Milbourne A, Keeler E, et al. Prospective study of combined colon and endometrial cancer screening in women with lynch syndrome: a patient-centered approach. J Oncol Pract. 2011;7:43-7.
60. Lu KH, Daniels M. Endometrial and ovarian cancer in women with Lynch syndrome: update in screening and prevention. Fam Cancer. 2013;12:273-7.