Best Practice & Research Clinical Obstetrics & Gynaecology
Volume 24, Issue 1 , Pages 3-18 , February 2010

Cancer genetics and reproduction

  • Helen Hanson, MBBS, MRCP (Clinical Research Fellow)

      Affiliations

    • Institute of Cancer Research, 15 Cotswold Road, Sutton, SM2 5NG, UK
    • Corresponding Author InformationCorresponding author. Tel.: +44 208 722 4000; fax: +44 208 722 4359.
    • ,
  • Shirley Hodgson, BM BCh, DM, FRCP (Professor of Cancer Genetics)

      Affiliations

    • Department of Clinical Genetics, St Georges Hospital, Blackshaw Road, Tooting, SW17 ORE, UK
    • Tel.: +44 208 725 5279, Fax: +44 208 725 3444.

References 

  1. Knudson AG. Heredity and human cancer. Am J Pathol. 1974;77(1):77–84
  2. Miki Y, Swensen J, Shattuck-Eidens D, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266(5182):66–71
  3. Wooster R, Bignell G, Lancaster J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995;378(6559):789–792
  4. Malkin D, Li FP, Strong LC, et al. Germ Line P53 mutations in a familial syndrome of breast-cancer, sarcomas, and other neoplasms. Science. 1990;250(4985):1233–1238
  5. Rahman N, Seal S, Thompson D, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007;39(2):165–167
  6. Seal S, Thompson D, Renwick A, et al. Truncating mutations in the fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet. 2006;38(11):1239–1241
  7. Meijers-Heijboer H, van den OA, Klijn J, et al. Low-penetrance susceptibility to breast cancer due to CHEK2 (∗)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet. 2002;31(1):55–59
  8. Easton DF, Pooley KA, Dunning AM, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature. 2007;447(7148):1087–1093
  9. Eeles RA, Kote-Jarai Z, Giles GG, et al. Multiple newly identified loci associated with prostate cancer susceptibility. Nat Genet. 2008;40(3):316–321
  10. Thomas G, Jacobs KB, Yeager M, et al. Multiple loci identified in a genome-wide association study of prostate cancer. Nat Genet. 2008;40(3):310–315
  11. Rubin SC, Blackwood MA, Bandera C, et al. BRCA1, BRCA2, and hereditary nonpolyposis colorectal cancer gene mutations in an unselected ovarian cancer population: relationship to family history and implications for genetic testing. Am J Obstet Gynecol. 1998;178(4):670–677
  12. Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003;72(5):1117–1130
  13. Boyd J, Sonoda Y, Federici MG, et al. Clinicopathologic features of BRCA-linked and sporadic ovarian cancer. J Am Med Assoc. 2000;283(17):2260–2265
  14. Boyd J. Specific keynote: hereditary ovarian cancer: what we know. Gynecol Oncol. 2003;88(1 Pt 2):S8–S10
  15. Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998;62(3):676–689
  16. Risch HA, McLaughlin JR, Cole DE, et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet. 2001;68(3):700–710
  17. Watson P, Butzow R, Lynch HT, et al. The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer. Gynecol Oncol. 2001;82(2):223–228
  18. Aarnio M, Sankila R, Pakkula E, et al. Cancer risk in mutation carriers of DNA-mismatch repair genes. Int J Cancer. 1999;81(2):214–218
  19. Vasen HF, Wijnen JT, Menko FH, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology. 1996;110(4):1020–1027
  20. Watson P, Lynch HT. Cancer risk in mismatch repair gene mutation carriers. Fam Cancer. 2001;1(1):57–60
  21. Gudmundsdottir K, Ashworth A. The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability. Oncogene. 2006;25(43):5864–5874
  22. Gayther SA, Russell P, Harrington P, et al. The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes. Am J Hum Genet. 1999;65(4):1021–1029
  23. Ramus SJ, Harrington PA, Pye C, et al. Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer. Hum Mutat. 2007;28(12):1207–1215
  24. Stratton JF, Gayther SA, Russell P, et al. Contribution of BRCA1 mutations to ovarian cancer. N Engl J Med. 1997;336(16):1125–1130
  25. Pal T, Permuth-Wey J, Betts JA, et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer. 2005;104(12):2807–2816
  26. Easton DF, Ford D, Bishop DT. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet. 1995;56(1):265–271
  27. Cancer risks in BRCA2 mutation carriers. The breast cancer linkage consortium. J Natl Cancer Inst. 1999;91(15):1310–1316
  28. Gayther SA, Mangion J, Russell P, et al. Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat Genet. 1997;15(1):103–105
  29. Antoniou AC, Spurdle AB, Sinilnikova OM, et al. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet. 2008;82(4):937–948
  30. Beller U, Halle D, Catane R, et al. High frequency of BRCA1 and BRCA2 germline mutations in Ashkenazi Jewish ovarian cancer patients, regardless of family history. Gynecol Oncol. 1997;67(2):123–126
  31. Fitzgerald MG, MacDonald DJ, Krainer M, et al. Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med. 1996;334(3):143–149
  32. Neuhausen S, Gilewski T, Norton L, et al. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet. 1996;13(1):126–128
  33. Struewing JP, Hartge P, Wacholder S, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med. 1997;336(20):1401–1408
  34. Ferla R, Calo V, Cascio S, et al. Founder mutations in BRCA1 and BRCA2 genes. Ann Oncol. 2007;18(Suppl. 6):vi93–vi98
  35. Rubin SC, Benjamin I, Behbakht K, et al. Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1. N Engl J Med. 1996;335(19):1413–1416
  36. Werness BA, Ramus SJ, DiCioccio RA, et al. Histopathology, FIGO stage, and BRCA mutation status of ovarian cancers from the Gilda Radner Familial Ovarian Cancer Registry. Int J Gynecol Pathol. 2004;23(1):29–34
  37. Levine DA, Argenta PA, Yee CJ, et al. Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations. J Clin Oncol. 2003;21(22):4222–4227
  38. Stratton JF, Thompson D, Bobrow L, et al. The genetic epidemiology of early-onset epithelial ovarian cancer: a population-based study. Am J Hum Genet. 1999;65(6):1725–1732
  39. Cass I, Baldwin RL, Varkey T, et al. Improved survival in women with BRCA-associated ovarian carcinoma. Cancer. 2003;97(9):2187–2195
  40. Pharoah PD, Easton DF, Stockton DL, et al. Survival in familial, BRCA1-associated, and BRCA2-associated epithelial ovarian cancer. United Kingdom Coordinating Committee for Cancer Research (UKCCCR) Familial Ovarian Cancer Study Group. Cancer Res. 1999;59(4):868–871
  41. Johannsson OT, Ranstam J, Borg A, et al. Survival of BRCA1 breast and ovarian cancer patients: a population-based study from southern Sweden. J Clin Oncol. 1998;16(2):397–404
  42. Lynch HT, Boland CR, Gong G, et al. Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications. Eur J Hum Genet. 2006;14(4):390–402
  43. 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(6):1453–1456
  44. Vasen HF, Mecklin JP, Khan PM, et al. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991;34(5):424–425
  45. Peltomaki P. Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol. 2003;21(6):1174–1179
  46. Peltomaki P, Vasen H. Mutations associated with HNPCC predisposition – update of ICG-HNPCC/INSiGHT mutation database. Dis Markers. 2004;20(4–5):269–276
  47. Senter L, Clendenning M, Sotamaa K, et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008;135(2):419–428
  48. 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(3):569–574
  49. Vasen HF, Moslein G, Alonso A, et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet. 2007;44(6):353–362
  50. 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(3):261–269
  51. Dunlop MG, Farrington SM, Carothers AD, et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet. 1997;6(1):105–110
  52. Geary J, Sasieni P, Houlston R, et al. Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC). Fam Cancer. 2008;7(2):163–172
  53. Froggatt NJ, Green J, Brassett C, et al. A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. J Med Genet. 1999;36(2):97–102
  54. Quehenberger F, Vasen HFA, van Houwelingen HC. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. Journal of Medical Genetics. 2005;42(6):491–496
  55. Vasen HF, Offerhaus GJ, Hartog Jager FC, et al. The tumour spectrum in hereditary non-polyposis colorectal cancer: a study of 24 kindreds in the Netherlands. Int J Cancer. 1990;46(1):31–34
  56. Wijnen J, de Leeuw W, Vasen H, et al. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet. 1999;23(2):142–144
  57. 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(1):17–25
  58. Lu KH, Schorge JO, Rodabaugh KJ, et al. Prospective determination of prevalence of Lynch syndrome in young women with endometrial cancer. J Clin Onc. 2007;25(33):5158–5164
  59. Berends MJW, Wu Y, Sijmons RH, et al. Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis. Am J Clin Oncol. 2003;21(23):4364–4370
  60. Millar AL, Pal T, Madlensky L, et al. Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium. Hum Mol Genet. 1999;8(5):823–829
  61. Soliman PT, Slomovitz BM, Broaddus RR, et al. Synchronous primary cancers of the endometrium and ovary: a single institution review of 84 cases. Gynecol Oncol. 2004;94(2):456–462
  62. Sandles LG. Familial endometrial adenocarcinoma. Clin Obstet Gynecol. 1998;41(1):167–171
  63. Ollikainen M, Abdel-Rahman WM, Moisio AL, et al. Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome?. J Clin Oncol. 2005;23(21):4609–4616
  64. Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000;119(6):1447–1453
  65. Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006;12(10):3209–3215
  66. Lim W, Olschwang S, Keller JJ, et al. Relative frequency and morphology of cancers in STK11 mutation carriers. Gastroenterology. 2004;126(7):1788–1794
  67. Young RH, Welch WR, Dickersin GR, et al. Ovarian sex cord tumor with annular tubules: review of 74 cases including 27 with Peutz-Jeghers syndrome and four with adenoma malignum of the cervix. Cancer. 1982;50(7):1384–1402
  68. Evans DG, Ladusans EJ, Rimmer S, et al. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet. 1993;30(6):460–464
  69. Gustafson S, Zbuk KM, Scacheri C, et al. Cowden syndrome. Semin Oncol. 2007;34(5):428–434
  70. Evans DG, Howell A. Breast cancer risk-assessment models. Breast Cancer Res. 2007;9(5):213
  71. Antoniou AC, Hardy R, Walker L, et al. Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics. J Med Genet. 2008;45(7):425–431
  72. Antoniou AC, Cunningham AP, Peto J, et al. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer. 2008;98(8):1457–1466
  73. 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(22):5248–5257
  74. 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(23):1758–1762
  75. The reduction in risk of ovarian cancer associated with oral-contraceptive use. The cancer and steroid hormone study of the centers for disease control and the National Institute of Child Health and Human Development. N Engl J Med. 1987;316(11):650–655
  76. Narod SA, Risch H, Moslehi R, et al. Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary ovarian cancer clinical study Group. N Engl J Med. 1998;339(7):424–428
  77. Modan B, Hartge P, Hirsh-Yechezkel G, et al. Parity, oral contraceptives, and the risk of ovarian cancer among carriers and noncarriers of a BRCA1 or BRCA2 mutation. N Engl J Med. 2001;345(4):235–240
  78. Breast cancer and hormonal contraceptives: collaborative reanalysis of individual data on 53 297 women with breast cancer and 100 239 women without breast cancer from 54 epidemiological studies. Collaborative Group on Hormonal Factors in Breast Cancer. Lancet. 1996;347(9017):1713–1727
  79. Narod SA, Dube MP, Klijn J, et al. Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2002;94(23):1773–1779
  80. Rebbeck TR, Lynch HT, Neuhausen SL, et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med. 2002;346(21):1616–1622
  81. King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003;302(5645):643–646
  82. Rebbeck TR, Levin AM, Eisen A, et al. Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J Natl Cancer Inst. 1999;91(17):1475–1479
  83. Rossouw JE, Anderson GL, Prentice RL, et al. Risks and benefits of estrogen plus progestin in healthy postmenopausal women: principal results from the women's health initiative randomized controlled trial. J Am Med Assoc. 2002;288(3):321–333
  84. Rebbeck TR, Friebel T, Wagner T, et al. Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol. 2005;23(31):7804–7810
  85. Armstrong K, Schwartz JS, Randall T, et al. Hormone replacement therapy and life expectancy after prophylactic oophorectomy in women with BRCA1/2 mutations: a decision analysis. J Clin Oncol. 2004;22(6):1045–1054
  86. Piver MS, Jishi MF, Tsukada Y, et al. Primary peritoneal carcinoma after prophylactic oophorectomy in women with a family history of ovarian-cancer - a report of the Gilda-Radner-Familial-Ovarian-Cancer-Registry. Cancer. 1993;71(9):2751–2755
  87. Crum CP, Drapkin R, Kindelberger D, et al. Lessons from BRCA: the tubal fimbria emerges as an origin for pelvic serous cancer. Clin Med Res. 2007;5(1):35–44
  88. Medeiros F, Muto MG, Lee Y, et al. The tubal fimbria is a preferred site for early adenocarcinoma in women with familial ovarian cancer syndrome. Am J Surg Pathol. 2006;30(2):230–236
  89. Chung L, Broaddus R, Crozier M, et al. Unexpected endometrial cancer at prophylactic hysterectomy in a woman with hereditary nonpolyposis colon cancer. Obstet Gynecol. 2003;102(5):1152–1155
  90. Kauff ND, Mitra N, Robson ME, et al. Risk of ovarian cancer in BRCA1 and BRCA2 mutation negative hereditary breast cancer families. J Natl Cancer Inst. 2005;97(18):1382–1384
  91. Pharoah PD, Antoniou A, Bobrow M, et al. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet. 2002;31(1):33–36
  92. Rosenthal A, Jacobs I. Familial ovarian cancer screening. Best Pract Res Clin Obstet Gynaecol. 2006;20(2):321–338
  93. 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(6):1708–1712
  94. Rijcken FE, Mourits MJ, Kleibeuker JH, et al. Gynecologic screening in hereditary nonpolyposis colorectal cancer. Gynecol Oncol. 2003;91(1):74–80
  95. Renkonen-Sinisalo L, Butzow R, Leminen A, et al. Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome. Int J Cancer. 2007;120(4):821–824
  96. Lynch HT, Casey MJ. Prophylactic surgery prevents endometrial and ovarian cancer in Lynch syndrome. Nat Clin Pract Oncol. 2007;4(12):672–673

PII: S1521-6934(09)00103-5

doi: 10.1016/j.bpobgyn.2009.08.002

Best Practice & Research Clinical Obstetrics & Gynaecology
Volume 24, Issue 1 , Pages 3-18 , February 2010

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