Phenotypic heterogeneity of hereditary gynecologic cancers: A report from the Creighton hereditary cancer registry

Familial Cancer

Volumn 12, Issue 4, 2013, Pages 719-740

  Casey, Murray Joseph ^a   Bewtra, Chhanda ^a   Lynch, Henry T ^a   Snyder, Carrie ^a   Stacy, Mark ^a   Watson, Patrice ^a  

^a CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Hereditary; Ovarian and fallopian tube cancer; Peritoneal cancer; Phenotypic heterogeneity; Uterine cancer

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ANAPLASTIC CARCINOMA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BREAST CANCER; CANCER REGISTRY; CANCER SCREENING; COLLOID CARCINOMA; COLORECTAL CARCINOMA; CONTROLLED STUDY; ENDOMETRIOID CARCINOMA; ENDOMETRIOSIS; ENDOMETRIUM CARCINOMA; FAMILIAL CANCER; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC DISORDER; GYNECOLOGIC CANCER; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MISMATCH REPAIR; MIXED TUMOR; MUTATION; OVARY CANCER; PERITONEUM CANCER; PHENOTYPE; PRIORITY JOURNAL; SQUAMOUS CELL CARCINOMA; TRANSITIONAL CELL CARCINOMA; URINARY TRACT CANCER; UTERINE CERVIX; UTERINE CERVIX CANCER; UTERINE CERVIX CARCINOMA; UTERINE TUBE; UTERINE TUBE CARCINOMA; UTERUS CANCER; UTERUS CARCINOMA;

ADULT; AGED; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR ENZYMES; FEMALE; FOLLOW-UP STUDIES; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GENITAL NEOPLASMS, FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PERITONEAL NEOPLASMS; PHENOTYPE; PROGNOSIS; REGISTRIES; UNITED STATES;

EID: 84888199727     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-013-9651-x     Document Type: Article

References (126)

1. American Cancer Society (2013) Cancer Facts and Figures 2013. American Cancer Society, Atlanta
2. Claus EB, Schildkraut JM, Thompson WD, Risch NJ (1996) The genetic attributable risk of breast and ovarian cancer. Cancer 77:2318-2324
3. Boyd J (1998) Molecular genetics of hereditary ovarian cancer. Oncology 12:399-406
4. Rubin SC, Blackwood MA, Bandera C, Behbakht K, Benjamin I, Rebbeck TR, Boyd J (1998) BRCA1, BRCA2, and hereditary nonpolyposis colorectal cancer gene mutations in an unselected ovarian cancer populations: relationship to family history and implications for genetic testing. Am J Obstet Gynecol 178:670-677
5. Pal T, Permuth-Wey J, Betts JA, Krischer JP, Fiorica J, Arango H et al (2005) BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer 104:2807-2816
6. Bewtra C, Watson P, Conway T, Read-Hippee C, Lynch HT (1992) Hereditary ovarian cancer: a clinicopathological study. Int J Gynecol Pathol 11:180-187
7. Malander S, Rambech E, Kristoffersson U, Halvarsson B, Ridderheim M, Borg A, Nilbert M (2006) The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer. Gynecol Oncol 101:238-243
8. Lynch HT, Casey MJ, Snyder CL, Bewtra C, Lynch JF, Butts M, Godwin AK (2009) Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management. Mol Oncol 3:97-137
9. Lynch HT, Casey MJ, Lynch J, White TEK, Godwin AK (1998) Genetics and ovarian carcinoma. Sem Oncol 25:265-281
10. Watson P, Bützow R, Lynch HT, Mecklin JP, Järvinen HJ, Vasen HF et al (2001) International collaborative group on HNPCC. The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer. Gynecol Oncol 82:223-228
11. Creasman WT, Odicino F, Maisonneuve P, Beller U, Benedet JL, Heintz APM et al (2006) Carcinoma of the corpus uteri. Int J Gynecol Obstet 95(Suppl 1):S105-S143
12. Parazzini F, La Vecchia C, Moroni S, Chatenoud L, Ricci E (1994) Family history and the risk of endometrial cancer. Int J Cancer 59:460-462
13. Gruber SB, Thompson WD (1996) A population-based study of endometrial cancer and familial risk in younger women. Cancer and Steroid Hormone Study Group. Cancer Epidemiol Biomarkers Prev 5:411-417
14. de la Chapelle A (2005) The incidence of Lynch syndrome. Fam Cancer 4:233-237
15. Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D et al (2006) Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 66:7810-7817
16. Lynch HT, Casey MJ, Knezetic JA, Shaw TG, Lynch JF, Bewtra C (2007) Hereditary factors in endometrial cancer. In: Giordano A, Bovicelli A, Kurman RJ (eds) Molecular pathology of gynecologic cancer. Humana Press, New Jersey, Totowa, pp 195-215
17. Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD et al (2008) The clinical phenotype of Lynch syndrome due to PMS2 mutations. Gastroenterology 135:419-428
18. Baglietto L, Lindor NM, Dowty JG, White DM, Wagner A, Gomez Garcia EB et al (2010) Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst 102:193-201
19. Bokhman JV (1983) Two pathologic types of endometrial carcinoma. Gynecol Oncol 15:10-17
20. Mutter GL (2007) Endometrial carcinogenesis. In: Giordano A, Bovicelli A, Kurman R (eds) Molecular pathology of gynecologic cancer. Humana Press, Totowa, pp 73-90
21. Sherman ME, Bitterman P, Rosenshein NB, Delgado G, Kurman RJ (1992) Uterine serous carcinoma: a morphologically diverse neoplasm with unifying clinicopathologic features. Am J Surg Pathol 16:600-610
22. Casey MJ, Bewtra C (2004) Peritoneal carcinoma in women with genetic susceptibility: implications for Jewish populations. Fam Cancer 3:265-681
23. Quinn MA, Benedet JL, Odicino F, Maisonneuve P, Beller U, Creasman WT et al (2006) Carcinoma of the cervix uteri. Int J Gynecol Obstet 95(Suppl 1):S43-S103
24. Vaknin Z, Gotlieb WH, Arseneau J, Ferenczy A (2009) Papillary serous carcinoma in situ in ovarian endometriosis in an MSH2 mutation carrier. Int J Gynecol Obstet 107:68-69
25. Nyiraneza C, Marbaix E, Smets M, Galant C, Sempoux C, Dahan K (2010) High risk for neoplastic transformation of endometriosis in a carrier of lynch syndrome. Fam Cancer 9:383-387
26. Narod SA, Ford D, Devilee P, Barkardottir RB, Lynch HT, Smith SA et al (1995) An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium. Am J Hum Genet 56:254-264
27. Easton DF, Ford D, Bishop DT (1995) Breast and ovarian cancer incidence in BRCA1 mutation carriers. The Breast Cancer Linkage Consortium. Am J Hum Genet 56:265-271
28. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Deville P et al (1998) Genetic heterogeneity and penetrance analysis of BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62:676-689
29. Goodfellow PJ, Buttin BM, Herzog TJ, Rader JS, Gibb RK, Swisher E et al (2003) Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. Proc Natl Acad Sci 100:5908-5913
30. Cederquist K, Emanuelsson M, Göransson I, Holinski-Feder E, Müller-koch Y, Golovleva I, Grönberg H (2004) Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden. Int J Cancer 109:370-376
31. National Center for Biotechnology Information. Gene. National Institutes of Health. Available at: http://www.ncbi.nlm.nih.gov/gene ? term = Lynch%20syndrome (Accessed on 10 Feb 2011)
32. Zhou C, Gilks CB, Hayes M, Clement PB (1998) Papillary serous carcinoma of the uterine cervix: a clinicopathologic study of 17 cases. Am J Surg Pathol 22:113-120
33. Young RH, Clement PB (2002) Endocervical adenocarcinoma and its variants: their morphology and differential diagnosis. Histopathology 41:185-207
34. Kaplan EJ, Caputo TA, Shen PUF, Sassoon RI, Soslow RA (1998) Familial papillary serous carcinoma of the cervix, peritoneum and ovary: a report of the first case. Gyncol Oncol 70:289-294
35. Nair N, Curtin JP, Mittal K, Hiotis KL (2012) Cervical adenocarcinoma in a patient with Lynch syndrome, Muir-Torre variant. J Clin Oncol 30:e5-e6
36. Nyström-Lahti M, Parsons R, Sistonen P, Pylkkänen L, Aaltonen LA, Leach FS et al (1994) Mismatch repair genes on chromosomes 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage. Am J Hum Genet 55:659-665
37. Mongiat-Artus P, Miquel C, Fléjou J-F, Coulet F, Verine J, Buhard O et al (2006) Spectrum of molecular alterations in colorectal, upper urinary tract, endocervical, and renal carcinomas arising in a patient with hereditary non-polyposis colorectal cancer. Virchows Arch 449:238-243
38. Dunlop MG, Farrington SM, Carothers AD, Wyllie AH, Sharp L, Burn J et al (1997) Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 6:105-110
39. Vasen HFA, Stormorken A, Menko FH, Nagengast FM, Kleibeuker JH, Griffioen G et al (2001) MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families. J Clin Oncol 19:4074-4080
40. Quehenberger F, Vasen HF, van Houweligen HC (2005) Risk of colorectal and endometrial cancer for carriers of mutations of the hMH1 and hMSH2 gene: correction for ascertainment. J Med Genet 42:491-496
41. Boks DES, Trujillo AP, Voogd AC, Morreau H, Kenter G, Vasen HFA (2002) Survival analysis of endometrial carcinoma associated with hereditary nonpolyposis colorectal cancer. Int J Cancer 102:198-200
42. Broaddus RR, Lynch HT, Chen L-M, Daniels MS, Conrad P, Munsell MF et al (2006) Pathologic features of endometrial carcinoma associated with HNPCC: a comparison with sporadic endometrial carcinoma. Cancer 106:87-94
43. Thompson D, Easton DF, Breast Cancer Linkage Consortium (2002) Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst 94:1358-1365
44. Hornreich G, Beller U, Lavie O, Renbaum P, Cohn Y, Levy-Lahad E (1999) Is uterine serous carcinoma a BRCA1-related disease? Case report and review of the literature. Gynecol Oncol 75:300-304
45. Lavie O, Hornreich G, Ben-Arie A, Rennert G, Cohen Y, Keidar R et al (2004) BRCA germline mutations in Jewish women with uterine serous papillary carcinoma. Gynecol Oncol 92:521-524
46. Lavie O, Ben-Arie A, Pilip A, Rennert G, Cohen Y, Feiner B, Ausinader R (2005) BRCA2 germline mutation in a woman with uterine serous papillary carcinoma: case report. Gynecol Oncol 99:486-488
47. Biron-Shental T, Drucker L, Altaras M, Bernheim J, Fishman A (2006) High incidence of BRCA1-2 germline mutations, previous breast cancer and familial cancer history in Jewish patients with uterine serous papillary carcinoma. Eur J Surg Oncol 32:1097-1100
48. Bruchim I, Amichay K, Kidron D, Attias Z, Biron-Shental T, Drucker L et al (2010) BRCA1/2 germline mutations in Jewish patients with uterine serous carcinoma. Int J Gynecol Cancer 20:1148-1153
49. Lavie O, Ben-Arie A, Segev Y, Faro J, Barak F, Haya N et al (2010) BRCA mutations in women with uterine serous carcinoma-still a debate. Int J Gynecol Cancer 20:1531-1534
50. Ambros RA, Sherman ME, Zahn CM, Bitterman P, Kurman RJ (1995) Endometrial intraepithelial carcinoma: a distinctive lesion specifically associated with tumors displaying serous differentiation. Hum Pathol 26:1260-1267
51. Zheng W, Schwartz PE (2005) Serous EIC as an early form of uterine papillary serous carcinoma: recent progress in understanding its pathogenesis and current opinions regarding pathologic and clinical management. Gynecol Oncol 96:579-582
52. Sherman ME, Bur ME, Kurman RJ (1995) p53 in endometrial cancer and its putative precursors: evidence for diverse pathways of tumorigenesis. Hum Pathol 26:1268-1274
53. Zheng W, Xiang L, Fadare O, Kong B (2011) A proposed model for endometrial serous carcinogenesis. Am J Surg Pathol 35:e1-e14
54. Silva EG, Jenkins R (1990) Serous carcinoma in endometrial polyps. Mod Pathol 3:120-128
55. Lee KR, Belinson JL (1991) Recurrence in noninvasive endometrial carcinoma: relationship to uterine papillary serous carcinoma. Am J Surg Pathol 15:965-973
56. Goff BA, Kato D, Schmidt RA, Ek M, Ferry JA, Muntz HG et al (1994) Uterine papillary serous carcinoma: patterns of metastatic spread. Gynecol Oncol 54:264-268
57. Kupryjanczyk J, Thor AD, Beauchamp R, Poremba C, Scully RE, Yandell DW (1996) Ovarian, peritoneal, and endometrial serous carcinoma: clonal origin of multifocal disease. Mod Pathol 9:166-173
58. Carcangiu ML, Tan LK, Chambers JT (1997) Stage IA uterine serous carcinoma: a study of 13 cases. Am J Surg Pathol 21:1507-1514
59. Soslow RA, Pirog E, Isacson C (2000) Endometrial intraepithelial carcinoma with associated peritoneal carcinomatosis. Am J Surg Pathol 24:726-732
60. Wheeler DT, Bell JA, Kurman RJ, Sherman ME (2000) Minimal uterine serous carcinoma: diagnosis and clinicopathologic correlation. Am J Surg Path 24:797-806
61. Baergen RN, Warren CD, Isacson C, Ellenson LH (2001) Early uterine serous carcinoma: clonal origin of extrauterine disease. Int J Gynecol Pathol 20:214-219
62. Slomovitz BM, Burke TW, Eifel PJ, Ramondetta LM, Silva EG, Jhingran A et al (2003) Uterine papillary serous carcinoma (UPSC): a single institution review of 129 cases. Gynecol Oncol 91:463-469
63. Massuger L, Roelofsen T, van Ham M, Bulten J (2010) The origin of serous ovarian cancer may be found in the uterus: a novel hypothesis. Med Hypothesis 74:859-861
64. Roelofsen T, van Kempen LC, van der Laak JA, van Ham MA, Bulten J, Massuger LF (2012) Concurrent endometrial intraepithelial carcinoma (EIC) and serous ovarian cancer: can EIC be seen as the precursor lesion? Int J Gynecol Cancer 22:457-464
65. Heintz APM, Odicino F, Maisonneuve P, Beller U, Benedet JL, Creasman WT, Ngan HYS, Pecorelli S (2006) Carcinoma of the ovary. Int J Gynecol Obstet 95(Suppl 1):161-192
66. Ketabi Z, Bartuma K, Bernstein I, Malander S, Grönberg H, Björck E et al (2011) Ovarian cancer linked to Lynch syndrome typically presents as early-onset non-serous epithelial tumors. Gynecol Oncol 121:462-465
67. Heintz APM, Odincino F, Maisonneuve P, Beller U, Benedet JL, Creasman WT et al (2006) Carcinoma of the fallopian tube. Int J Gynecol Obstet 95(Suppl 1):145-160
68. Young RH (2007) Neoplasms of the fallopian tube and broad ligament: a selective survey including historical perspective and emphasizing recent developments. Pathology 39:112-124
69. Culton LK, Deavers MT, Silva EG, Liu J, Malpica A (2006) Endometrioid carcinoma simultaneously involving the uterus and the fallopian tube. Am J Surg Pathol 30:844-849
70. Roh MH, Kindelberger D, Crum CP (2009) Serous tubal intraepithelial carcinoma and the dominant ovarian mass: clues to serous tumor origin? Am J Surg Pathol 33:376-383
71. Medeiros F, Muto MG, Lee Y, Elvin JA, Callahan MJ, Feltmate C et al (2006) The tubal fimbria is a preferred site for early adenocarcinoma in women with familial ovarian cancer syndrome. Am J Surg Pathol 30:230-236
72. Kindelberger DW, Lee Y, Miron A, Hirsch MS, Feltmate C, Medeiros F et al (2007) Intraepithelial carcinoma of the fimbria and pelvic serous carcinoma: evidence for a causal relationship. Am J Surg Pathol 31:161-169
73. Lee Y, Miron A, Drapkin R, Nucci MR, Medeiros F, Saleemuddin A et al (2007) A candidate to serous carcinoma that originates in the distal fallopian tube. J Pathol 211:26-35
74. Folkins AK, Jarboe EA, Roh MH, Crum CP (2009) Precursors to pelvic serous carcinoma and their clinical implications. Gynecol Oncol 113:391-396
75. Zweemer RP, van Diest PJ, Verheijen RH, Ryan A, Gille JJ, Sijmons RH et al (2000) Molecular evidence linking primary cancer of the fallopian tube to BRCA1 mutations. Gynecol Oncol 76:45-50
76. Cass I, Holschneider C, Datta N, Barbuto D, Walts AE, Karlan BY (2005) BRCA-mutation-associated fallopian tube carcinoma: a distinct clinical phenotype? Obstet Gynecol 106:1327-1334
77. Powell CB, Kenley E, Chen L, Crawford B, McLennan J, Zaloudek C et al (2005) Risk-reducing salpingo-oophorectomy in BRCA mutation carriers: role of serial sectioning in the detection of occult malignancy. J Clin Oncol 23:127-132
78. Carcangui ML, Peissel B, Pasini B, Spatti G, Radice P, Manoukian S (2006) Incidental carcinomas in prophylactic specimens in BRCA1 and BRCA2 germ-line mutation carriers, with emphasis on fallopian tube lesions: report of 6 cases and review of the literature. Am J Surg Pathol 30:1222-1230
79. Finch A, Shaw P, Rosen B, Murphy J, Narod SA, Colgan TJ (2006) Clinical and pathological findings of prophylactic salpingo-oophorectomies in 159 BRCA1 and BRCA2 carriers. Gyencol Oncol 100:58-64
80. Callahan MJ, Crum CP, Medeiros F, Kindelberger DW, Elvin JA, Garber JE et al (2007) Primary fallopian tube malignancies in BRCA-positive women undergoing surgery for ovarian cancer risk reduction. J Clin Oncol 25:3985-3990
81. Palma L, Marcus V, Gilbert L, Chong G, Foulkes WD (2008) Synchoronous occult cancers of the endometrium and fallopian tube in an MSH2 mutation carrier at the time of prophylactic surgery. Gynecol Oncol 111:575-578
82. Schmeler KM, Daniels MS, Soliman PT, Broaddus RR, Deavers MT, Vu TM et al (2010) Primary peritoneal cancer after bilateral salpingo-oophorectomy in two patients with Lynch syndrome. Obstet Gynecol 115:432-434
83. Lynch HT, Krush AJ, Lemon HM, Kaplan AR, Condit PT, Bottomley RH (1972) Tumor variation in families with breast cancer. JAMA 222:1631-1635
84. Lynch HT, Lynch PM (1979) Tumor variation in the cancer family syndrome: ovarian cancer. Am J Surg 138:439-442
85. Lynch HT, Ens J, Lynch JF, Watson P (1988) Tumor variation in three extended Lynch syndrome II kindreds. Am J Gastroenterol 83:741-747
86. Lynch HT, Guirgis HA, Albert S, Brennan M, Lynch J, Kraft C et al (1974) Familial association of carcinoma of the breast and ovary. Surg Gynecol Obstet 138:717-724
87. Narod SA, Feuteun J, Lynch HT, Watson P, Conway T, Lenoir GM (1991) Familial breast-ovarian cancer locus on chromosome 17q12-23. Lancet 388:82-83
88. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N et al (1994) Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265:2088-2090
89. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J et al (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789-792
90. Liang SX, Pearl M, Liang S, Xiang L, Jia L, Yang B et al (2001) Personal history of breast cancer as a significant risk factor for endometrial serous carcinoma in women aged 55 years old and younger. Int J Cancer 128:763-770
91. Geary J, Sasieni P, Houlston R, Izatt L, Eeles R, Payne SJ et al (2008) Gene-related cancer spectrum in families with hereditary colorectal cancer (HNPCC). Fam Cancer 7:163-172
92. Watson P, Vasen HFA, Mecklin J-P, Bernstein I, Aarnio M, Järvinen HJ et al (2008) The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer 123:444-449
93. Buerki N, Gautier L, Kovac M, Marra G, Buser M, Mueller H, Heinimann K (2012) Evidence for breast cancer as an integral part of Lynch syndrome. Genes Chromosomes Cancer 51:83-91
94. Zaino R, Whitney C, Brady MF, DeGeest K, Burger RA, Buller RE (2001) Simultaneously detected endometrial and ovarian carcinomas: a prospective clinicopathologic study of 74 cases: a Gynecologic Oncology Group study. Gynecol Oncol 83:355-362
95. Hemminki K, Aaltonen L, Li X (2003) Subsequent primary malignancies after endometrial carcinoma and ovarian carcinoma. Cancer 97:2432-2439
96. Uccella S, Cha SS, Melton LJ, Bergstralh EJ, Boardman LA, Keeney GL et al (2011) Risk factors for developing multiple malignancies in patients with endometrial cancer. Int J Gynecol Cancer 21:896-901
97. Aarnio M, Mecklin J-P, Aaltonen LA, Nyström-Lahti M, Järvinen HJ (1995) Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 64:430-433
98. Vasen HFA, Wijnen HTh, Menko FH, Kleibeuker JH, Taal BG, Griffioen G et al (1996) Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroentology 110:1020-1027
99. Green J, O'Driscoll M, Barnes A, Maher ER, Bridge P, Shields K, Parfrey PS (2002) Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation. Dis Colon Rectum 45:1223-1232
100. Hendriks YMC, Wagner A, Morreau H, Menko F, Stomorken A, Quehenberger F et al (2004) Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 127:17-25
101. Vasen HFA, Watson P, Mecklin J-P, Jass JR, Green JS, Nomizu T et al (1994) The epidemiology of endometrial cancer in hereditary nonpolyposis colorectal cancer. Anticancer Res 14:1675-1678
102. Lu KH, Dinh M, Kohlmann W, Watson P, Green J, Syngal S et al (2005) Gynecologic cancer as a "sentinel cancer" for women with hereditary nonpolyposis colorectal cancer syndrome. Obstet Gynecol 105:569-574
103. Vasen HFA, Offerhaus GJ, den Hartog Jager FC, Menko FH, Nagengast FM, Griffioen G et al (1990) The tumor spectrum in hereditary nonpolyposis colorectal cancer: a study of 24 kindreds in the Netherlands. Int J Cancer 46:31-34
104. Watson P, Lynch HT (1993) Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71:677-685
105. van der Post RS, Kiemeney LA, Ligtenberg MJL, Witjes JA, Hulsbergen-van de Kaa CA, Bodmer D et al (2010) Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. J Med Genet 47:464-470
106. Swiersz L (2002) Role of endometriosis in cancer and tumor development. Ann NY Acad Sci 955:281-292
107. Varma R, Rollason T, Gupta JK, Maher ER (2004) Endometriosis and the neoplastic process. Reproduction 127:293-304
108. Somigliana E, Viganò P, Parazzini F, Stoppelli S, Giambattista E, Vercellini P (2006) Association between endometriosis and cancer: a comprehensive review and a critical analysis of clinical and epidemiological evidence. Gynecol Oncol 101:331-341
109. Viganò P, Somigliana E, Parazzini F, Vercellini P (2007) Bias versus causality: interpreting recent evidence of association between endometriosis and ovarian cancer. Fertil Steril 88:588-593
110. Nezhat F, Datta MS, Hanson V, Pejovic T, Nezhat C, Nezhat C (2008) The relationship of endometriosis and ovarian malignancy: a review. Fertil Steril 90:1559-1570
111. Munksgaard PS, Blaakaer J (2011) The association between endometriosis and gynecologic cancers and breast cancer: a review of epidemiological data. Gyencol Oncol 123:157-163
112. Munksgaard PS, Blaakaer J (2012) The association between endometriosis and ovarian cancer: a review of histological, genetic and molecular alterations. Gynecol Oncol 124:164-169
113. Wei J-J, William J, Bulun S (2011) Endometriosis and ovarian cancer: a review of clinical, pathological, and molecular aspects. Int J Gynecol Pathol 30:553-568
114. Brinton LA, Gridley G, Persson I, Baron J, Bergqvist A (1997) Cancer risk after hospital discharge diagnosis of endometriosis. Am J Obstet Gynecol 176:572-579
115. Borgfeldt C, Andolf E (2004) Cancer risk after hospital discharge diagnosis of benign ovarian cysts and endometriosis. Acta Obstet Gynecol Scand 83:395-400
116. Heaps JM, Nieberg RK, Berek JS (1990) Malignant neoplasms arising in endometriosis. Obstet Gynecol 75:1023-1028
117. McMeekin DS, Burger RA, Manetta A, DiSaia P, Berman ML (1995) Endometrioid adenocarcinoma of the ovary and its relationship to endometriosis. Gynecol Oncol 59:81-86
118. Sainz de la Cuesta R, Eichhorn JH, Rice LW, Fuller AR Jr, Nikrui N, Goff BA (1996) Histologic transformation of benign endometriosis to early epithelial ovarian cancer. Gynecol Oncol 60:238-244
119. Fukunaga M, Nomura K, Ishikawa E, Ushigome S (1997) Ovaian atypical endometriosis: its close association with malignant epithelial tumours. Histopathology 30:249-255
120. Erzen M, Kovacic J (1998) Relationship between endometriosis and ovarian cancer. Euro J Gynaecol Oncol 19:553-555
121. Slavin RE, Krum R, Van Dihn T (2000) Endometriosis-associated intestinal tumors: a clinical and pathological study of 6 cases with review of the literature. Hum Pathol 31:456-463
122. Stern RC, Dash R, Bentley RC, Snyder MJ, Haney AF, Robboy SJ (2001) Malignancy in endometriosis: frequency and comparison of ovarian and extraovarian types. Int J Gynecol Pathol 20:133-139
123. Modesitt SC, Tortolero-Luna G, Robinson JB, Gershenson DM, Wolf JK (2002) Ovarian and extraovarian endometriosis-associated cancer. Obstet Gynecol 100:788-795
124. Pearce CL, Templeman C, Rossing MA, Lee A, Near AM, Webb PM et al (2012) Association between endometriosis and risk of histological subtypes of ovarian cancer: a pooled analysis of case-control studies. Lancet Oncol 13:385-394
125. Casey MJ, Synder C, Bewtra C, Narod SA, Watson P, Lynch HT (2005) Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations. Gynecol Oncol 97:457-467
126. Fraumeni LS Jr, Grundy GW, Creagan ET, Everson RB (1975) Six families prone to ovarian cancer. Cancer 36:364-369