Screening for gynaecologic cancers in genetically predisposed women

Best Practice and Research: Clinical Obstetrics and Gynaecology

Volumn 26, Issue 2, 2012, Pages 267-282

  Dreyer, Greta ^a  

^a UNIVERSITY OF PRETORIA   (South Africa)

Author keywords

BRCA; cancer screening; HNPCC; inherited susceptibility

Indexed keywords

ARTICLE; CANCER RISK; CANCER SCREENING; COWDEN SYNDROME; ENDOMETRIUM CANCER; EPITHELIAL OVARIAN CANCER; FALLOPIAN TUBE CANCER; FAMILIAL CANCER; FAMILY HISTORY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC SCREENING; GYNECOLOGIC CANCER; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HEREDITARY COLORECTAL CANCER; HUMAN; IMMUNOHISTOCHEMISTRY; MEDICAL HISTORY; OVARIECTOMY; OVARY CANCER; PRIMARY PERITONEAL CANCER; PRIORITY JOURNAL; UTERINE CERVIX CANCER; UTERUS CANCER;

ADULT; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; EARLY DETECTION OF CANCER; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENITAL NEOPLASMS, FEMALE; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HUMANS;

EID: 84858751879     PISSN: 15216934     EISSN: 15321932     Source Type: Journal    
DOI: 10.1016/j.bpobgyn.2011.11.002     Document Type: Article

References (93)

1. D. Easton, D. Ford, D.T. Bishop, and The Breast Cancer Linkage Consortium Breast and ovarian cancer incidence in BRCA1 mutation carriers Am J Hum Genet 56 1995 265 271
2. S.M. Domchek, T.M. Friebel, and C.F. Singer Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality JAMA 304 2010 967 975
3. L. Scheuer, N. Kauff, and M. Robson Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers J Clin Oncol 20 2002 1260 1268 (Pubitemid 34177432)
4. D.G. Evans, F. Lalloo, and L. Ashcroft Uptake of risk-reducing surgery in unaffected women at high risk of breast and ovarian cancer is risk, age, and time dependent Cancer Epidemiol Biomarkers Prev 18 2009 2318 2324
5. L.S. Friedman, E.A. Ostermeyer, and C.I. Szabo Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian carcinoma in ten families Nature Genet 8 1994 399 404 (Pubitemid 24375608)
6. R. Wooster, G. Bignell, and J. Lancaster Identification of the breast cancer susceptibility gene BRCA2 Nature 378 1995 789 792 (Pubitemid 26004412)
7. S.S. Ibrahim, E.E. Hafez, and M.M. Hashishe Presymptomatic breast cancer in Egypt: role of BRCA1 and BRCA2 tumour suppressor genes mutation detection J Exper Clin Cancer Res 29 2010 82 84
8. F.J. Couch, O. Sinilnikova, and R.A. Vierkant Polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 Study Cancer Epidemiol Biomarkers Prev 16 2007 1416 1421 (Pubitemid 47076872)
9. M.D. Reeves, T.M. Yawitch, and N.C. Van der Merwe BRCA1 mutations in South African breast and/or ovarian cancer families: evidence of a novel founder mutation in Afrikaner families Int J Cancer 110 2004 677 682 (Pubitemid 38746025)
10. C.M. Schlebusch, G. Dreyer, and M.D. Sluiter Cancer prevalence in 129 breast-ovarian cancer families tested for BRCA1 and BRCA2 mutations S Afr Med J 100 2010 113 117
11. R. Moslehi, W. Chu, and B. Karlan BRCA1 and BRCA2 analysis of 208 Ashkenazi Jewish women with ovarian cancer Am J Hum Genet 100 2010 113 117
12. A.C. Antoniou, A.B. Spurdle, and O.M. Sinilnikova Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutations carriers Am J Hum Genet 82 2008 937 948
13. L.A. Meyer, R.R. Broaddus, and K.H. Lu Endometrial cancer and Lynch syndrome: clinical and pathologic considerations Cancer Control 16 2009 14 22
14. E.M. Grindedal, I. Blanco, and A. Stormorken High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers Familial Cancer 8 2009 145 151
15. N. Taylor, and D.G. Mutch Gynecologic manifestations of hereditary nonpolyposis colorectal cancer. From inherited to sporadic disease. [Review] Oncology 94 2006 85 94 (Pubitemid 46940220)
16. H.F. Vasen, P. Watson, and J.P. Mecklin New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC Gastroenterology 116 1999 1453 1456 (Pubitemid 29258894)
17. P. Watson, and H.T. Lynch Cancer risk in mismatch repair gene mutation carriers Fam Cancer 1 2001 57 60
18. A. Russo, V. Calo, and L. Bruno Hereditary ovarian cancer Crit Review Oncol-Hematol 69 2009 28 44
19. D.G. Evans, F. Lalloo, and A. Wallace Update on the Manchester Scoring System for BRCA1 and BRCA2 testing J Med Genet 41 7 2004 474 480
20. J.S. Kwon, M.S. Daniels, and C.C. Sun Preventing future cancers by testing women with ovarian cancer for BRCA mutations J Clin Oncol 28 2010 675 682
21. R.J. Brenner, J.N. Weltzel, and N. Hansen Screening-detected Breast Cancer in a Man with BRCA2 Mutation: Case Report Radiol 230 2004 553 555 (Pubitemid 38133821)
22. T.S. Franks, A.M. Deffenbaugh, and J.E. Reid Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals J Clin Oncol 20 2002 1480 1490 (Pubitemid 34260526)
23. A. Antoniou, P.D. Pharoah, and S. Narod Average risks of breast and ovarian cancer associated with BRCA1 and BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies Am J Hum Genet 72 2003 1117 1130 (Pubitemid 36530000)
24. D.H. Miguel, A. Osorio, and J. Goding Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: Implications for genetic testing Int J Cancer 97 2002 466 471 (Pubitemid 34027805)
25. C. Gulden, and O.L. Olopade Risk assessment and genetic testing for ovarian cancer. [Review] Am J Roentgenol 194 2010 309 310
26. Somer R, Farengo-Clark D, Patel A, et al. Risk, Epidemiology and Prevention - Familial Breast Cancer - Genetic Testing Screening for BRCA1 Mutations in Patients with Triple Negative Breast Cancer and Basal Phenotype.
27. J.L. Berliner, and A.M. Fay Risk assessment and genetic counselling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. [Review] J Genet Counsel 16 2007 241 260 (Pubitemid 46878636)
28. M.A. Rodriguez-Bigas, C.R. Boland, and S.R. Hamilton A National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and the Bethesda guidelines J Natl Cancer Instit 89 1997 1758 1762
29. A. Umar, C.R. Boland, and J.P. Terdiman Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer syndrome (Lynch syndrome) and microsatellite instability J Natl Cancer Inst 96 2004 261 268 (Pubitemid 38256271)
30. M.J. Berends, Y. Wu, and R.H. Sijmonds Towards new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis J Clin Oncol 21 2003 4364 4370 (Pubitemid 46621813)
31. P. Hartge Designing early detection programs for ovarian cancer J Natl Cancer Inst 102 2009 3 4
32. H. Hampel, W. Frankel, and J. Panescu Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer syndrome) among endometrial cancer patients Cancer Res 66 2006 7810 7817 (Pubitemid 44289242)
33. M.C. Lim, S.S. Seo, and S. Kang Hereditary non-polyposis colorectal cancer/Lynch syndrome in Korean patients with endometrial cancer Japan J Clin Oncol 40 2010 1121 1127
34. C. Walsh, A. Blum, and A. Walts Lynch syndrome among gynecologic oncology patients meeting the Bethesda guidelines for screening Gynecol Oncol 116 2010 516 521
35. S.M. Domchek, A. Eisen, and K. Calzone Application of breast cancer risk prediction models in clinical practice J Clin Oncol 21 2003 593 601 (Pubitemid 46621891)
36. E. Amir, O.C. Freedman, and B. Seruga Assessing women at high risk of breast cancer: a review of risk assessment models J Natl Cancer Inst 102 2010 680 691
37. J.F. Stratton, P.D.P. Pharaoh, and S.K. Smith A systematic review and meta-analysis of family history and risk of ovarian cancer Br J Obstet Gynaecol 105 1998 493 499 (Pubitemid 28261378)
38. E. Lucenteforte, R. Talamini, and M. Montella Family history of cancer and the risk of endometrial cancer Eur J Cancer Prev 135 2009 35 40
39. J.S. Lee, E.M. John, and V. McGuire Breast and ovarian cancer in relatives of cancer patients with and without BRCA mutations Cancer Epidemiol Biomarkers Prev 15 2006 359 363 (Pubitemid 43342188)
40. S.A. Gayther, J. Mangion, and P. Rusell Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene Nat Genet 15 1997 103 105 (Pubitemid 27014960)
41. B.E. Kiely, M.A. Jenkins, and J.M. McKinley Contralateral risk-reducing mastectomy in BRCA1 and BRCA2 mutation carriers and other high-risk women in the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) Breast Cancer Res Treat 120 2010 725 726
42. K. Bosse, K. Rhiem, and B. Wappenschmidt Screening for ovarian cancer by transvaginal ultrasound and serum CA125 measurement in women with a familial predisposition: a prospective cohort study Gynecol Oncol 103 2006 1077 1082 (Pubitemid 44821336)
43. J.T. Rabban, M. Barnes, and L.M. Chen Ovarian pathology in risk-reducing salpingo-oophorectomies from women with BRCA mutations, emphasizing the differential diagnosis of occult primary and metastatic carcinoma Am J Surg Pathol 33 2009 1125 1136
44. T.R. Rebbeck, H.T. Lynch, and S.L. Neuhausen Prophylactic oophorectomy in carriers of BRCA1 and BRCA2 mutations N Engl J Med 346 2002 1616 1622 (Pubitemid 34755669)
45. T.R. Rebbeck, Y. Wang, and P.W. Kantoff Modification of BRCA1- and BRCA2-associated breast cancer risk by AlB1 genotype and reproductive history Cancer Res 61 2011 5420 5424
46. K.A. Metcalfe, H.T. Lynch, and P. Ghadirian The risk of ovarian cancer after breast cancer in BRCA1 and BRCA2 carriers Gynecol Oncol 96 2005 222 226 (Pubitemid 39612440)
47. F. Lécuru, C. Huchon, and U. Metzger Contribution of ultrasonography to endometrial cancer screening in patients with hereditary nonpolyposis colorectal cancer/Lynch syndrome Intl J Gynecol Cancer 20 2010 583 587
48. D.G. Evans, R. Clayton, and P. Donnai Risk-reducing surgery for ovarian cancer: outcomes in 300 surgeries suggest a low peritoneal primary risk Eur J Hum Genet 17 2009 1381 1385
49. J.K.I. Tobacman, M.H. Greene, and M.A. Tucker Intra-abdominal carcinomatosis after prophylactic oophorectomy in ovarian cancer prone families Lancet 2 1982 795 797 (Pubitemid 12068994)
50. J.E. Hirst, G.B. Gard, and K. McIllroy High rates of occult fallopian tube cancer diagnosed at prophylactic bilateral salpingo-oophorectomy Int J Gyn Cancer 19 2009 826 829
51. D. Thompson, D.F. Easton, and The Breast Cancer Linkage Consortium Cancer Incidence in BRCA1 Mutation Carriers J Natl Inst 94 2002 1358 1365 (Pubitemid 35154140)
52. M. Hebert-Blouin, V. Koufogianis, and P. Gillett Fallopian tube cancer in a BRCA1 mutation carrier: Rapid development and failure of screening Am J Obstet Gynecol 186 2002 53 54 (Pubitemid 34093739)
53. P.G. Rose, R. Shrigley, and G.L. Wiesnert Germline BRCA2 Mutation in a Patient with Fallopian Tube Carcinoma: A Case Report Gynaecol Oncol 77 2000 319 320 (Pubitemid 30317157)
54. R.P. Zweemer, P.J. Van Diest, and R.H. Verheijen Molecular evidence linking primary cancer of the fallopian tube to BRCA1 mutations Gynecol Oncol 76 2000 45 50 (Pubitemid 30048318)
55. B.M. Slomovitz, T. Burke, and P. Eifel Uterine papillary serous carcinoma (UPSC): a single institution review of 129 cases Gynecol Oncol 91 2003 463 469 (Pubitemid 38388137)
56. K. Rhiem, C. Fischer, and K. Bosse Increased risk of cervical cancer in high-risk families with and without mutations in the BRCA1 and BRCA2 genes J Clin Oncol 25 2007 5588
57. S.C. Rubin, M.A. Blackwood, and C. Bandera BRCA1, BRCA2 and hereditary non polyposis colorectal cancer gene mutations in an unselected ovarian cancer population: relationship with family history and implications for genetic testing Am J Obstet Gynecol 178 1998 670 677 (Pubitemid 28196872)
58. L.A. Meyer, S.N. Westin, and K.H. Lu Genetic polymorphisms and endometrial cancer risk Expert Anticancer Ther 8 2008 1159 1167
59. V. Bonadona, B. Bonaiti, and S. Olschwang Cancer risks associated with germline mutations in MLH1, MSH2 and MSH6 genes in Lynch syndrome JAMA 305 2011 2304 DOI
60. W. Burke, G. Peterson, and P. Lynch Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I Hereditary nopolyposis colon cancer. Cancer Genetics Studies Consortium JAMA 277 1997 915 919 (Pubitemid 27123953)
61. K.H. Lu, J.O. Schorge, and K.J. Rodabaugh Prospective determination of prevalence of Lynch syndrome in young women with endometrial cancer J Clin Oncol 25 2007 5158 5164 (Pubitemid 350232246)
62. P. Watson, R. Butzow, and H.T. Lynch The clinical features of ovarian cancer in hereditary nn-polyposis colon cancer Gynecol Oncol 82 2001 223 228 (Pubitemid 32730595)
63. B. Heald, J. Mester, and L. Rybicki Frequent gastrointestinal polyps and colorectal adenocarcinoma in a prospective series of PTEN mutation carriers Gastroenterology 139 2010 1927 1933
64. C. Eng Will the real Cowden syndrome please stand up: revised diagnositic criteria J Med Genet 37 2000 828 830
65. E. Partridge, A.R. Kreimer, and R.T. Greenlee Results from four rounds of ovarian cancer screening in a randomized trial Obstet Gynecol 113 2009 775 782
66. U. Menon, A. Gentry-Maharaj, and R. Hallett Sensitivity and specificity of multimodal and ultrasound screening for ovarian cancer, and stage distribution of detected cancers: results of the prevalence screen of the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS) Lancet Oncol 10 2009 327 340
67. M. Lux, S. Ackermann, and C. Nestle-Kramling Use of intensified early cancer detection in high-risk patients with familial breast and ovarian cancer Europ J Cancer Prev 14 2005 399 411 (Pubitemid 41104950)
68. G.L. Anderson, M. McIntosh, and L. Wu Assessing lead time of selected ovarian cancer biomarkers: a nested case-control study J Natl Cancer Inst 102 2009 26 37
69. L.S. Cohen, P.F. Escobar, and C. Scgharm Three-dimensional power Doppler ultrasound improves the diagnostic accuracy for ovarian cancer prediction Gynaecol Oncol 82 2001 40 48 (Pubitemid 32634952)
70. R. Eitan, R. Michaelson-Cohen, and H. Levavi The counselling and management of young healthy BRCA mutation carriers Int J Gynecol Cancer 19 2009 1156 1159
71. C. Gulden, and O.I. Olopade Risk assessment and genetic testing for ovarian cancer Am J Roentgenol 194 2010 309 310
72. M.H. Greene, M. Piedmonte, and D. Alberts A prospective study of risk-reducing salpingo-oophorectomy and longitudinal CA-125 screening among women at increased genetic risk of ovarian cancer: design and baseline characteristics: a Gynecologic Oncology Group study Cancer Epidemiol Biomark Prevent 17 2008 594 604 (Pubitemid 351469209)
73. R.J. Persadie Ultrasonographic assessment of endometrial thickness: a review J Obstet Gynecol Can 24 2002 131 136
74. S. Duffy, T.L. Jackson, and M. Lansdown ATAC Tralists' Group. The ATAC adjuvant breat cancrer trial: baseline endometrial sub-protocol data on the effectiveness of transvaginal ultrasonography and diagnostic hysteroscopy Hum Reprod 20 2005 294 301
75. M.F. Fung, P. Bryson, and M. Johnston Screening postmenopausal women for ovarian cancer: a systematic review J Obstet Gynaecol Can 26 2004 717 728
76. N.D. Kauff, J.M. Satagopan, and M.E. Robson Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation N Engl J Med 346 2002 1609 1615 (Pubitemid 34755668)
77. K.H. Lu, and N.D. Kauff Does a BRCA mutation plus tamoxifen equal hysterectomy? Gynecol Oncol 104 2006 3 4 (Pubitemid 46054141)
78. B. Fischer, J.P. Costantino, and D.L. Wickerham Tamoxifen for prevention of breast cancer: report of the national surgical adjuvant breast and bowel project P-1 study J Natl Cancer Instit 90 1998 1371 1379
79. A.F. Howard, L.G. Balneaves, and J.L. Botorff Women's decision making about risk-reducing strategies in the context of hereditary breast and ovarian cancer: a systematic review J Genet Counsel 18 2009 578 597
80. C.A. Gabriel, J. Tigges-Cardwell, and J. Stopfer Use of total abdominal hysterectomy and hormone replacement therapy in BRCA1 and BRCA2 mutation carriers undergoing risk-reducing salpingo-oophorectomy Fam Cancer 8 2009 23 28
81. J.M. Lancaster, C.B. Powell, and N.D. Kauff Society of Gynecologic Oncologists Educational Committee statement on risk assessment for inherited gynecologic cancer predispositions Gynecol Oncol 107 2007 159 162 (Pubitemid 47575743)
82. K.A. Metcalfe, D. Birenbaum-Carmeli, and J. Lubinski International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers Int J Cancer 122 2008 2017 2022 (Pubitemid 351441190)
83. Early Breast Cancer Trialists 'Collaborative Group' Ovarian ablation in early breast cancer: overview of the randomised trials Lancet 348 1996 1189 1196
84. M.P. Lux, S. Ackermann, and M.R. Bani Age of uptake of early cancer detection facilities by low-risk and high-risk patients with familial breast and ovarian cancer Europ J Cancer Prevent 14 2005 503 511 (Pubitemid 41689649)
85. R. Goshen, W. Chu, and L. Elit Is uterine serous papillary adenocarcinoms a manifestation of the hereditary breast-ovarian cancer syndrome? Gynecol Oncol 79 2000 477 481
86. A. Pijpe, P. Manders, and R.M. Brohet Physical activity and the risk of breast cancer in BRCA1/2 mutation carriers Breast Cancer Res Treat 120 2010 235 244
87. R. Klitzman, and W. Chung The process of deciding about prophylactic surgery for breast and ovarian cancer: Patient questions, uncertainties, and communication Am J Med Genet 152 2010 52 66
88. H. Meijers-Heijboer, C.T.M. Brekelmans, and M. Menke-Pluymers Use of genetic testing and prophylactic mastectomy and oophorectomy in women with breast of ovarian cancer from families with a BRCA1 or BRCA2 mutation J Clin Oncol 21 2003 1675 1681 (Pubitemid 46638577)
89. D. Morgan, H. Sylvester, and F.L. Lucas Cancer prevention and screening practices among women at risk for hereditary breast and ovarian cancer after genetic counseling in the community setting Fam Cancer 8 2009 277 287
90. T.R. Rebbeck, T. Friebe, and H.T. Lynch Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE study group J Clin Oncol 22 2004 1055 1062 (Pubitemid 41095038)
91. M.A. Price, P.N. Butow, and M. Charles Predictors of breast cancer screening behaviour in women with a strong family history of the disease Breast Cancer Res Treat 124 2010 509 519
92. K.M. Kelly, L. Senter, and H. Leventhal Subjective and objective risk of ovarian cancer in Ashkehazi Jewish women testing for BRC1/2 mutations Patient Educ Counsel 70 2008 135 142 (Pubitemid 350262829)
93. A.C. Antoniou, R. Hardy, and L. Walker Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring systems using data from UK genetics clinics J Med Genet 45 2008 425 431 (Pubitemid 351977132)