Current Problems in Surgery
Volume 47, Issue 10 , Pages 750-830 , October 2010

The Role of Surgery in Cancer Prevention

  • Ismail Jatoi, MD, PhD

      Affiliations

    • Professor and Chief, Division of Surgical Oncology, University of Texas Health Sciences Center, San Antonio, Texas
  • ,
  • John R. Benson, MD

      Affiliations

    • Consultant Breast Surgeon, Cambridge Breast Unit, Addenbrooke's Hospital, Fellow of Selwyn College, Cambridge, United Kingdom
  • ,
  • Siong-Seng Liau, MD

      Affiliations

    • Clinical Lecturer and Honorary Specialist Registrar in Hepatobiliary Surgery, University Department of Surgery, Addenbrooke's Hospital, Cambridge, United Kingdom
  • ,
  • Yijun Chen, MD

      Affiliations

    • Resident in Surgery, Stanford University, Palo Alto, California
  • ,
  • Robin M. Cisco, MD

      Affiliations

    • Resident in Surgery, Stanford University, Palo Alto, California
  • ,
  • Jeffrey A. Norton, MD

      Affiliations

    • Professor of Surgery, Stanford University, Palo Alto, California
  • ,
  • Jeffrey F. Moley, MD

      Affiliations

    • Professor of Surgery, Chief, Section of Endocrine and Oncologic Surgery, Associate Director, Siteman Cancer Center, Washington University, St. Louis, Missouri
  • ,
  • Katherine W. Khalifeh, MD

      Affiliations

    • Resident in Surgery, Johns Hopkins Hospital, Baltimore, Maryland
  • ,
  • Michael A. Choti, MD

      Affiliations

    • Professor and Chief, Division of Surgical Oncology, Johns Hopkins Hospital, Baltimore, Maryland

References 

  1. Hanahan D, Weinberg RA. The hallmarks of cancer. Cell. 2000;100:57–70
  2. Stewart SA, Weinberg RA. Telomeres: cancer to human aging. Annu Rev Cell Dev Biol. 2006;22:531–557
  3. Bodmer WF. Inherited susceptibility to cancer. In:  Frank LM,  Teich NM editor. Introduction to the Cellular and Molecular Biology of Cancer. 2nd edition. Oxford: Oxford University Press; 1995;
  4. Knudson AG. Hereditary cancer, oncogenes, and antioncogenes. Cancer Res. 1985;45:1437–1443
  5. Knudson AG. Genetics of human cancer. Annu Rev Genet. 1986;20:231–251
  6. Bishop JM, Weinberg RA. Molecular oncology. New York: Scientific American Inc; 1996;
  7. Kinzler KW, Vogelstein B. Cancer-susceptibility genes (Gatekeepers and caretakers). Nature. 1997;386(761):3
  8. Reya T, Morrison SJ, Clarke MF, et al. Stem cells, cancer, and cancer stem cells. Nature. 2001;414:105–111
  9. Benson JR, Baum M, Colletta AA. Role of TGF beta in the anti-estrogen response/resistance of human breast cancer. J Mammary Gland Biol Neoplasia. 1996;1:381–389
  10. Greaves M. Cancer causation: the Darwinian downside of past success?. Lancet Oncol. 2002;3:244–251
  11. Jordan CT, Guzman ML, Noble M. Cancer stem cells. N Engl J Med. 2006;355:1253–1261
  12. Lapidot T, Sirard C, Vormoor J, et al. A cell initiating human acute myeloid leukaemia after transplantation into SCID mice. Nature. 1994;367:645–648
  13. Bonnet D, Dick JE. Human acute myeloid leukemia is organized as a hierarchy that originates from a primitive hematopoietic cell. Nat Med. 1997;3:730–737
  14. Rowley JD. Letter: A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and giemsa staining. Nature. 1973;243:290–293
  15. Brodeur GM. Molecular pathology of human neuroblastomas. Semin Diagn Pathol. 1994;11:118–125
  16. Catteau A, Morris JR. BRCA1 methylation: a significant role in tumour development?. Semin Cancer Biol. 2002;12:359–371
  17. Weaver BA, Cleveland DW. Aneuploidy: instigator and inhibitor of tumorigenesis. Cancer Res. 2007;67:10103–10105
  18. Kastan MB, Bartek J. Cell-cycle checkpoints and cancer. Nature. 2004;432:316–323
  19. Kops GJ, Weaver BA, Cleveland DW. On the road to cancer: aneuploidy and the mitotic checkpoint. Nat Rev Cancer. 2005;5:773–785
  20. Lobrich M, Jeggo PA. The impact of a negligent G2/M checkpoint on genomic instability and cancer induction. Nat Rev Cancer. 2007;7:861–869
  21. Mountzios G, Terpos E, Dimopoulos MA. Aurora kinases as targets for cancer therapy. Cancer Treat Rev. 2007;34:175–182
  22. Hahn WC. Role of telomeres and telomerase in the pathogenesis of human cancer. J Clin Oncol. 2003;21:2034–2043
  23. Saldivar JS, Wu X, Follen M, et al. Nucleotide excision repair pathway review (I: Implications in ovarian cancer and platinum sensitivity). Gynecol Oncol. 2007;107:S56–S71
  24. Leibeling D, Laspe P, Emmert S. Nucleotide excision repair and cancer. J Mol Histol. 2006;37:225–238
  25. Soreide K, Janssen EA, Soiland H, et al. Microsatellite instability in colorectal cancer. Br J Surg. 2006;93:395–406
  26. Vasen HF. Review article: the Lynch syndrome (Hereditary nonpolyposis colorectal cancer). Aliment Pharmacol Ther. 2007;26(Suppl 2):113–126
  27. Fishel R, Lescoe MK, Rao MR, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell. 1993;75:1027–1038
  28. Butel JS. Viral carcinogenesis: revelation of molecular mechanisms and etiology of human disease. Carcinogenesis. 2000;21:405–426
  29. Rous P. Viruses and tumour causation (An appraisal of present knowledge). Nature. 1965;207:457–463
  30. Toren A, Ben-Bassat I, Rechavi G. Infectious agents and environmental factors in lymphoid malignancies. Blood Rev. 1996;10:89–94
  31. de Larco JE, Todaro GJ. Growth factors from murine sarcoma virus-transformed cells. Proc Natl Acad Sci USA. 1978;75:4001–4005
  32. Turner CE, Burridge K. Transmembrane molecular assemblies in cell-extracellular matrix interactions. Curr Opin Cell Biol. 1991;3:849–853
  33. Zwick E, Bange J, Ullrich A. Receptor tyrosine kinase signalling as a target for cancer intervention strategies. Endocr Relat Cancer. 2001;8:161–173
  34. Perona R. Cell signalling: growth factors and tyrosine kinase receptors. Oncol Trans Clin. 2006;8:77–82
  35. Cruz JJ, Ocana A, Del Barco E, et al. Targeting receptor tyrosine kinases and their signal transduction routes in head and neck cancer. Ann Oncol. 2007;18:421–430
  36. Lo HW, Hsu SC, Hung MC. EGFR signaling pathway in breast cancers: from traditional signal transduction to direct nuclear translocalization. Breast Cancer Res Treat. 2006;95:211–218
  37. Baselga J, Albanell J. Mechanism of action of anti-HER2 monoclonal antibodies. Ann Oncol. 2001;12(Suppl 1):S35–S41
  38. Marx SJ. Molecular genetics of multiple endocrine neoplasia types 1 and 2. Nat Rev Cancer. 2005;5:367–375
  39. Malumbres M, Barbacid M. Ras oncogenes: the first 30 years. Nat Rev Cancer. 2003;3:459–465
  40. Mirza AM, Gysin S, Malek N, et al. Cooperative regulation of the cell division cycle by the protein kinases RAF and AKT. Mol Cell Biol. 2004;24:10868–10881
  41. Nesbit CE, Tersak JM, Prochownik EV. MYC oncogenes and human neoplastic disease. Oncogene. 1999;18:3004–3016
  42. Vogel F. Genetics of retinoblastoma. Hum Genet. 1979;52:1–54
  43. Knudson AG. Cancer genetics. Am J Med Genet. 2002;111:96–102
  44. Harbour JW, Dean DC. Rb function in cell-cycle regulation and apoptosis. Nat Cell Biol. 2000;2:E65–E67
  45. Blackburn AC, Jerry DJ. Knockout and transgenic mice of Trp53: what have we learned about p53 in breast cancer?. Breast Cancer Res. 2002;4:101–111
  46. 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;250:1233–1238
  47. Sherr CJ. The INK4a/ARF network in tumour suppression. Nat Rev Mol Cell Biol. 2001;2:731–737
  48. Sherr CJ, McCormick F. The RB and p53 pathways in cancer. Cancer Cell. 2002;2:103–112
  49. Ruiz i Altaba A, Sánchez P, Dahmane N. Gli and hedgehog in cancer: tumours, embryos and stem cells. Nat Rev Cancer. 2002;2:361–372
  50. Hahn H, Wicking C, Zaphiropoulous PG, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell. 1996;85:841–851
  51. Gorlin RJ. Nevoid basal cell carcinoma syndrome. Dermatol Clin. 1995;13:113–125
  52. Benson JR. Role of transforming growth factor beta in breast carcinogenesis. Lancet Oncol. 2004;5:229–239
  53. Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell. 1990;61:759–767
  54. Clevers H. Wnt breakers in colon cancer. Cancer Cell. 2004;5:5–6
  55. Viktorsson K, Lewensohn R, Zhivotovsky B. Apoptotic pathways and therapy resistance in human malignancies. Adv Cancer Res. 2005;94:143–196
  56. Sanchez-Beato M, Sanchez-Aguilera A, Piris MA. Cell cycle deregulation in B-cell lymphomas. Blood. 2003;101:1220–1235
  57. Cho WC. Oncomirs: the discovery and progress of microRNAs in cancers. Mol Cancer. 2007;6:60
  58. Garzon R, Croce CM. microRNAs in normal and malignant hematopoiesis. Curr Opin Hematol. 2008;15:352–358
  59. Miremadi A, Oestergaard MZ, Pharoah PD, et al. Cancer genetics of epigenetic genes. Hum Mol Genet. 2007;16(Spec No. 1):R28–R49
  60. Esteller M. Epigenetic lesions causing genetic lesions in human cancer: promoter hypermethylation of DNA repair genes. Eur J Cancer. 2000;36:2294–2300
  61. Esteller M. Epigenetic gene silencing in cancer: the DNA hypermethylome. Hum Mol Genet. 2007;16(Spec No. 1):R50–R59
  62. Behrens J. Cadherins and catenins: role in signal transduction and tumor progression. Cancer Metastasis Rev. 1999;18:15–30
  63. Gentile A, Trusolino L, Comoglio PM. The Met tyrosine kinase receptor in development and cancer. Cancer Metastasis Rev. 2008;27:85–94
  64. Pantuck AJ, Zeng G, Belldegrun AS, et al. Pathobiology, prognosis, and targeted therapy for renal cell carcinoma: exploiting the hypoxia-induced pathway. Clin Cancer Res. 2003;9:4641–4652
  65. Pierce GB, Speers WC. Tumors as caricatures of the process of tissue renewal: prospects for therapy by directing differentiation. Cancer Res. 1988;48:1996–2004
  66. Schipper H, Goh CR, Wang TL. Shifting the cancer paradigm: must we kill to cure?. J Clin Oncol. 1995;13:801–807
  67. Berliner JL, Fay AM. Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of genetic counselors. J Genet Couns. 2007;16:241–260
  68. Jatoi I, Anderson WF. Management of women who have a genetic predisposition for breast cancer. Surg Clin North Am. 2008;88:845–861vii-viii
  69. Zakaria S, Degnim AC. Prophylactic mastectomy. Surg Clin North Am. 2007;87:317–331viii
  70. Recht A. Contralateral prophylactic mastectomy: caveat emptor. J Clin Oncol. 2009;27:1347–1349
  71. Ford D, Easton DF, Stratton M, et al. The Breast Cancer Linkage Consortium Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet. 1998;62:676–689
  72. Robson M, Offit K. Clinical practice (Management of an inherited predisposition to breast cancer). N Engl J Med. 2007;357:154–162
  73. 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;72:1117–1130
  74. Zon RT, Goss E, Vogel VG, et al. American Society of Clinical Oncology policy statement: the role of the oncologist in cancer prevention and risk assessment. J Clin Oncol. 2009;27:986–993
  75. Jatoi I. Breast cancer screening. Am J Surg. 1999;177:518–524
  76. Jatoi I. MRI in breast cancer management: potential for benefit and harm. Int J Fertil Womens Med. 2005;50:281–284
  77. Fisher B, Costantino JP, Wickerham DL, et al. Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 study. J Natl Cancer Inst. 1998;90:1371–1388
  78. Vogel VG, Costantino JP, Wickerham DL, et al. Effects of tamoxifen vs raloxifene on the risk of developing invasive breast cancer and other disease outcomes: the NSABP Study of Tamoxifen and raloxifene (star) P-2 trial. JAMA. 2006;295:2727–2741
  79. Cordeiro PG. Breast reconstruction after surgery for breast cancer. N Engl J Med. 2008;359:1590–1601
  80. Barton MB, West CN, Liu IL, et al. Complications following bilateral prophylactic mastectomy. J Natl Cancer Inst Monogr. 2005;35:61–66
  81. Hartmann LC, Schaid DJ, Woods JE, et al. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med. 1999;340:77–84
  82. Geiger AM, Yu O, Herrinton LJ, et al. A population-based study of bilateral prophylactic mastectomy efficacy in women at elevated risk for breast cancer in community practices. Arch Intern Med. 2005;165:516–520
  83. Meijers-Heijboer H, van Geel B, van Putten WL, et al. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med. 2001;345:159–164
  84. Hartmann LC, Sellers TA, Schaid DJ, et al. Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst. 2001;93:1633–1637
  85. Rebbeck TR, Friebel T, Lynch HT, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the Prose Study Group. J Clin Oncol. 2004;22:1055–1062
  86. Rebbeck TR, Lynch HT, Neuhausen SL, et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med. 2002;346:1616–1622
  87. Yi M, Meric-Bernstam F, Middleton LP, et al. Predictors of contralateral breast cancer in patients with unilateral breast cancer undergoing contralateral prophylactic mastectomy. Cancer. 2009;115:962–971
  88. Hill-Kayser CE, Harris EE, Hwang WT, et al. Twenty-year incidence and patterns of contralateral breast cancer after breast conservation treatment with radiation. Int J Radiat Oncol Biol Phys. 2006;66:1313–1319
  89. Rosen PP, Groshen S, Kinne DW. Prognosis in T2N0M0 stage I breast carcinoma: a 20-year follow-up study. J Clin Oncol. 1991;9:1650–1661
  90. Pierce LJ, Levin AM, Rebbeck TR, et al. Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage (I/II breast cancer). J Clin Oncol. 2006;24:2437–2443
  91. Peralta EA, Ellenhorn JD, Wagman LD, et al. Contralateral prophylactic mastectomy improves the outcome of selected patients undergoing mastectomy for breast cancer. Am J Surg. 2000;180:439–445
  92. McDonnell SK, Schaid DJ, Myers JL, et al. Efficacy of contralateral prophylactic mastectomy in women with a personal and family history of breast cancer. J Clin Oncol. 2001;19:3938–3943
  93. Herrinton LJ, Barlow WE, Yu O, et al. Efficacy of prophylactic mastectomy in women with unilateral breast cancer: a cancer research network project. J Clin Oncol. 2005;23:4275–4286
  94. Brekelmans CT, Seynaeve C, Menke-Pluymers M, et al. Survival and prognostic factors in BRCA1-associated breast cancer. Ann Oncol. 2006;17:391–400
  95. Brekelmans CT, Tilanus-Linthorst MM, Seynaeve C, et al. Tumour characteristics, survival and prognostic factors of hereditary breast cancer from BRCA2-, BRCA1- and non-BRCA1/2 families as compared to sporadic breast cancer cases. Eur J Cancer. 2007;43:867–876
  96. Klaren HM, Van'T Veer LJ, van Leeuwen FE, et al. Potential for bias in studies on efficacy of prophylactic surgery for BRCA1 and BRCA2 mutation. J Natl Cancer Inst. 2003;95:941–947
  97. Lostumbo L, Carbine N, Wallace J, et al. Prophylactic mastectomy for the prevention of breast cancer. Cochrane Database Syst Rev. 2004;CD002748
  98. Jatoi I, Anderson WF. Cancer screening. Curr Probl Surg. 2005;42:620–682
  99. Sjolander A, Humphreys K, Palmgren J. On informative detection bias in screening studies. Stat Med. 2008;27:2635–2650
  100. Jatoi I, Anderson WF. Breast cancer overdiagnosis with screening mammography. Arch Intern Med. 2009;169:999–1000[Author reply 1001]
  101. Juni P, Egger M. Commentary: empirical evidence of attrition bias in clinical trials. Int J Epidemiol. 2005;34:87–88
  102. Brandberg Y, Sandelin K, Erikson S, et al. Psychological reactions, quality of life, and body image after bilateral prophylactic mastectomy in women at high risk for breast cancer: a prospective 1-year follow-up study. J Clin Oncol. 2008;26:3943–3949
  103. Coughlin SS. Recall bias in epidemiologic studies. J Clin Epidemiol. 1990;43:87–91
  104. Tuttle TM, Habermann EB, Grund EH, et al. Increasing use of contralateral prophylactic mastectomy for breast cancer patients: a trend toward more aggressive surgical treatment. J Clin Oncol. 2007;25:5203–5209
  105. Tuttle TM, Jarosek S, Habermann EB, et al. Increasing rates of contralateral prophylactic mastectomy among patients with ductal carcinoma in situ. J Clin Oncol. 2009;27:1362–1367
  106. Metcalfe K, Lynch HT, Ghadirian P, et al. Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol. 2004;22:2328–2335
  107. Katipamula R, Degnim AC, Hoskin T, et al. Trends in mastectomy rates at the Mayo Clinic, Rochester: effect of surgical year and preoperative magnetic resonance imaging. J Clin Oncol. 2009;27:4082–4088
  108. Alberts SR, Cervantes A, van de Velde CJ. Gastric cancer: epidemiology, pathology and treatment. Ann Oncol. 2003;14(Suppl 2):ii31–ii36
  109. Lauren P. The two histological main types of gastric carcinoma: diffuse and so-called intestinal-type carcinoma (An attempt at a histo-clinical classification). Acta Pathol Microbiol Scand. 1965;64:31–49
  110. Ekstrom AM, Serafini M, Nyren O, et al. Dietary antioxidant intake and the risk of cardia cancer and noncardia cancer of the intestinal and diffuse types: a population-based case-control study in Sweden. Int J Cancer. 2000;87:133–140
  111. Pharoah PD, Guilford P, Caldas C. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology. 2001;121:1348–1353
  112. Caldas C, Carneiro F, Lynch HT, et al. Familial gastric cancer: overview and guidelines for management. J Med Genet. 1999;36:873–880
  113. Keller G, Vogelsang H, Becker I, et al. Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation. Am J Pathol. 1999;155:337–342
  114. Brooks-Wilson AR, Kaurah P, Suriano G, et al. Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Genet. 2004;41:508–517
  115. Norton JA, Ham CM, Van Dam J, et al. CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. Ann Surg. 2007;245:873–879
  116. Hebbard PC, Macmillan A, Huntsman D, et al. Prophylactic total gastrectomy (PTG) for hereditary diffuse gastric cancer (HDGC): the Newfoundland experience with 23 patients. Ann Surg Oncol. 2009;16:1890–1895
  117. Suriano G, Yew S, Ferreira P, et al. Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. Clin Cancer Res. 2005;11:5401–5409
  118. Huntsman DG, Carneiro F, Lewis FR, et al. Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. N Engl J Med. 2001;344:1904–1909
  119. Chun YS, Lindor NM, Smyrk TC, et al. Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated?. Cancer. 2001;92:181–187
  120. Lewis FR, Mellinger JD, Hayashi A, et al. Prophylactic total gastrectomy for familial gastric cancer. Surgery. 2001;130:612–617Discussion 617-9
  121. Guilford P, Hopkins J, Harraway J, et al. E-cadherin germline mutations in familial gastric cancer. Nature. 1998;392:402–405
  122. Humar B, Guilford P. Hereditary diffuse gastric cancer: a manifestation of lost cell polarity. Cancer Sci. 2009;100:1151–1157
  123. Blair V, Martin I, Shaw D, et al. Hereditary diffuse gastric cancer: diagnosis and management. Clin Gastroenterol Hepatol. 2006;4:262–275
  124. Suriano G, Seixas S, Rocha J, et al. A model to infer the pathogenic significance of CDH1 germline missense variants. J Mol Med. 2006;84:1023–1031
  125. Berx G, Cleton-Jansen AM, Nollet F, et al. E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. EMBO J. 1995;14:6107–6115
  126. Takeichi M. Cadherin cell adhesion receptors as a morphogenetic regulator. Science. 1991;251:1451–1455
  127. Cisco RM, Ford JM, Norton JA. Hereditary diffuse gastric cancer: implications of genetic testing for screening and prophylactic surgery. Cancer. 2008;113:1850–1856
  128. Rogers WM, Dobo E, Norton JA, et al. Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications. Am J Surg Pathol. 2008;32:799–809
  129. Barber M, Murrell A, Ito Y, et al. Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer. J Pathol. 2008;216:295–306
  130. Grady WM, Willis J, Guilford PJ, et al. Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer. Nat Genet. 2000;26:16–17
  131. Oliveira C, de Bruin J, Nabais S, et al. Intragenic deletion of CDH1 as the inactivating mechanism of the wild-type allele in an HDGC tumour. Oncogene. 2004;23:2236–2240
  132. Oliveira C, Sousa S, Pinheiro H, et al. Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression. Gastroenterology. 2009;136:2137–2148
  133. Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, adopted on February 20, 1996. J Clin Oncol. 1996;14:1730–1736Discussion 1737-40
  134. Cisco RM, Norton JA. Hereditary diffuse gastric cancer: surgery, surveillance and unanswered questions. Future Oncol. 2008;4:553–559
  135. Oliveira C, Bordin MC, Grehan N, et al. Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. Hum Mutat. 2002;19:510–517
  136. Shaw D, Blair V, Framp A, et al. Chromoendoscopic surveillance in hereditary diffuse gastric cancer: an alternative to prophylactic gastrectomy?. Gut. 2005;54:461–468
  137. Barber ME, Save V, Carneiro F, et al. Histopathological and molecular analysis of gastrectomy specimens from hereditary diffuse gastric cancer patients has implications for endoscopic surveillance of individuals at risk. J Pathol. 2008;216:286–294
  138. Charlton A, Blair V, Shaw D, et al. Hereditary diffuse gastric cancer: predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone. Gut. 2004;53:814–820
  139. Fitzgerald RC, Caldas C. Clinical implications of E-cadherin associated hereditary diffuse gastric cancer. Gut. 2004;53:775–778
  140. Maehara Y, Baba H, Oda S, et al. [Diagnosis and treatment for familial gastric cancer]. Gan To Kagaku Ryoho. 2002;29:523–531
  141. Caron O, Schielke A, Svrcek M, et al. Usefulness of prophylactic gastrectomy in a novel large hereditary diffuse gastric cancer (HDGC) family. Am J Gastroenterol. 2008;103:2160–2161
  142. Miwa K, Kinami S, Sato T, et al. [Vagus-saving D2 procedure for early gastric carcinoma]. Nippon Geka Gakkai Zasshi. 1996;97:286–290
  143. Ando S, Tsuji H. Surgical technique of vagus nerve-preserving gastrectomy with D2 lymphadenectomy for gastric cancer. Aust NZ J Surg. 2008;78:172–176
  144. Kojima K, Yamada H, Inokuchi M, et al. Functional evaluation after vagus-nerve-sparing laparoscopically assisted distal gastrectomy. Surg Endosc. 2008;22:2003–2008
  145. Francis WP, Rodrigues DM, Perez NE, et al. Prophylactic laparoscopic-assisted total gastrectomy for hereditary diffuse gastric cancer. JSLS. 2007;11:142–147
  146. Dralle H, Gimm O, Simon D, et al. Prophylactic thyroidectomy in 75 children and adolescents with hereditary medullary thyroid carcinoma: German and Austrian experience. World J Surg. 1998;22:744–750Discussion 750-1
  147. Hinze R, Holzhausen HJ, Gimm O, et al. Primary hereditary medullary thyroid carcinoma—C-cell morphology and correlation with preoperative calcitonin levels. Virchows Arch. 1998;433:203–208
  148. Wolfe HJ, Melvin KE, Cervi-Skinner SJ, et al. C-cell hyperplasia preceding medullary thyroid carcinoma. N Engl J Med. 1973;289:437–441
  149. Moley JF, DeBenedetti MK. Patterns of nodal metastases in palpable medullary thyroid carcinoma: recommendations for extent of node dissection. Ann Surg. 1999;229:880–887Discussion 887-8
  150. Howe JR, Norton JA, Wells SA. Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia type 2A (Results of long-term follow-up). Surgery. 1993;114:1070–1077
  151. Frank-Raue K, Kratt T, Hoppner W, et al. Diagnosis and management of pheochromocytomas in patients with multiple endocrine neoplasia type 2-relevance of specific mutations in the RET proto-oncogene. Eur J Endocrinol. 1996;135:222–225
  152. Quayle FJ, Fialkowski EA, Benveniste R, et al. Pheochromocytoma penetrance varies by RET mutation in MEN2A. Surgery. 2007;142:800–805Discussion 805.e1
  153. Kraimps JL, Denizot A, Carnaille B, et al. Groupe d'Etude des Tumeurs a calcitonin (GETC, French Calcitonin Tumors Study Group), French association of endocrine surgeons Primary hyperparathyroidism in multiple endocrine neoplasia type IIa: retrospective French multicentric study. World J Surg. 1996;20:808–812Discussion 812-3
  154. Bugalho MJ, Limbert E, Sobrinho LG, et al. A kindred with multiple endocrine neoplasia type 2A associated with pruritic skin lesions. Cancer. 1992;70:2664–2667
  155. Ceccherini I, Romei C, Barone V, et al. Identification of the Cys634 → Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis. J Endocrinol Invest. 1994;17:201–204
  156. Gagel RF, Levy ML, Donovan DT, et al. Multiple endocrine neoplasia type 2a associated with cutaneous lichen amyloidosis. Ann Intern Med. 1989;111:802–806
  157. Lemos MC, Carrilho F, Rodrigues FJ, et al. Early onset of medullary thyroid carcinoma in a kindred with multiple endocrine neoplasia type iia associated with cutaneous lichen amyloidosis. Endocr Pract. 2002;8:19–22
  158. Nunziata V, di Giovanni G, Lettera AM, et al. Cutaneous lichen amyloidosis associated with multiple endocrine neoplasia type 2A. Henry Ford Hosp Med J. 1989;37:144–146
  159. Seri M, Celli I, Betsos N, et al. A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis. Clin Genet. 1997;51:86–90
  160. Eng C, Clayton D, Schuffenecker I, et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2 (International RET mutation consortium analysis). JAMA. 1996;276:1575–1579
  161. Moore SW, Zaahl MG. Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET. Pediatr Surg Int. 2008;24:521–530
  162. Romeo G, Ceccherini I, Celli J, et al. Association of multiple endocrine neoplasia type 2 and Hirschsprung disease. J Intern Med. 1998;243:515–520
  163. Yip L, Cote GJ, Shapiro SE, et al. Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship. Arch Surg. 2003;138:409–416Discussion 416
  164. Miller CA, Ellison EC. Multiple endocrine neoplasia type. In:  Clark OH,  Duh Q-Y,  Kebebew E editor. Textbook of Endocrine Surgery. 2nd edition. Philadelphia: WB Saunders; 2005;p. 2B
  165. Lips CJ, Landsvater RM, Hoppener JW, et al. Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med. 1994;331:828–835
  166. White ML, Doherty GM. Multiple endocrine neoplasia. Surg Oncol Clin North Am. 2008;17:439–459x
  167. Wohllk N, Cote GJ, Bugalho MM, et al. Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma. J Clin Endocrinol Metab. 1996;81:3740–3745
  168. Elisei R, Romei C, Cosci B, et al. RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center. J Clin Endocrinol Metab. 2007;92:4725–4729
  169. Neumann HP, Bausch B, McWhinney SR, et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med. 2002;346:1459–1466
  170. Fialkowski EA, DeBenedetti MK, Moley JF, et al. RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds. J Pediatr Surg. 2008;43:188–190
  171. Gagel RF, Tashjian AH, Cummings T, et al. The clinical outcome of prospective screening for multiple endocrine neoplasia type 2a (An 18-year experience). N Engl J Med. 1988;318:478–484
  172. Niccoli-Sire P, Murat A, Baudin E, et al. The French Calcitonin Tumours Study Group (GETC) Early or prophylactic thyroidectomy in MEN (2/FMTC gene carriers: results in 71 thyroidectomized patients). Eur J Endocrinol. 1999;141:468–474
  173. Rodriguez GJ, Balsalobre MD, Pomares F, et al. Prophylactic thyroidectomy in MEN 2 A syndrome: experience in a single center. J Am Coll Surg. 2002;195:159–166
  174. Wells SA, Skinner MA. Prophylactic thyroidectomy, based on direct genetic testing, in patients at risk for the multiple endocrine neoplasia type 2 syndromes. Exp Clin Endocrinol Diabetes. 1998;106:29–34
  175. Brandi ML, Gagel RF, Angeli A, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. 2001;86:5658–5671
  176. Kaufman FR, Roe TF, Isaacs H, et al. Metastatic medullary thyroid carcinoma in young children with mucosal neuroma syndrome. Pediatrics. 1982;70:263–267
  177. Samaan NA, Draznin MB, Halpin RE, et al. Multiple endocrine syndrome type IIb in early childhood. Cancer. 1991;68:1832–1834
  178. Hundahl SA, Cady B, Cunningham MP, et al. U.S. and German Thyroid Cancer Study Group Initial results from a prospective cohort study of 5583 cases of thyroid carcinoma treated in the united states during 1996 (An American College of Surgeons Commission on Cancer Patient Care Evaluation study). Cancer. 2000;89:202–217
  179. Sosa JA, Tuggle CT, Wang TS, et al. Clinical and economic outcomes of thyroid and parathyroid surgery in children. J Clin Endocrinol Metab. 2008;93:3058–3065
  180. Machens A, Niccoli-Sire P, Hoegel J, et al. Early malignant progression of hereditary medullary thyroid cancer. N Engl J Med. 2003;349:1517–1525
  181. Skinner MA, Moley JA, Dilley WG, et al. Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. N Engl J Med. 2005;353:1105–1113
  182. Guillem JG, Wood WC, Moley JF, et al. ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes. J Clin Oncol. 2006;24:4642–4660
  183. Simon S, Pavel M, Hensen J, et al. Multiple endocrine neoplasia 2 A syndrome: surgical management. J Pediatr Surg. 2002;37:897–900
  184. Bae SJ, Kim DJ, Kim JY, et al. A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Korean families with multiple endocrine neoplasia 2A. Thyroidology. 2006;16:609–614
  185. Bethanis S, Koutsodontis G, Palouka T, et al. A newly detected mutation of the RET protooncogene in exon 8 as a cause of multiple endocrine neoplasia type 2A. Hormones. 2007;6:152–156
  186. Jimenez C, Dang GT, Schultz PN, et al. A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma. J Clin Endocrinol Metab. 2004;89:3521–3526
  187. Komminoth P, Kunz EK, Matias-Guiu X, et al. Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas. Cancer. 1995;76:479–489
  188. Pigny P, Bauters C, Wemeau JL, et al. A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma. J Clin Endocrinol Metab. 1999;84:1700–1704
  189. Ercolino T, Lombardi A, Becherini L, et al. The Y606C RET mutation causes a receptor gain of function. Clin Endocrinol. 2008;69:253–258
  190. Machens A, Schneyer U, Holzhausen HJ, et al. Emergence of medullary thyroid carcinoma in a family with the Cys630Arg RET germline mutation. Surgery. 2004;136:1083–1087
  191. Brauckhoff M, Gimm O, Brauckhoff K, et al. Calcitonin kinetics in the early postoperative period of medullary thyroid carcinoma. Langenbecks Arch Surg. 2001;386:434–439
  192. Fugazzola L, Pinchera A, Luchetti F, et al. Disappearance rate of serum calcitonin after total thyroidectomy for medullary thyroid carcinoma. Int J Biol Markers. 1994;9:21–24
  193. Dottorini ME, Assi A, Sironi M, et al. Multivariate analysis of patients with medullary thyroid carcinoma (Prognostic significance and impact on treatment of clinical and pathologic variables). Cancer. 1996;77:1556–1565
  194. Modigliani E, Cohen R, Campos JM, et al. The GETC Study Group Prognostic factors for survival and for biochemical cure in medullary thyroid carcinoma: results in 899 patients (Groupe d'etude des tumeurs a calcitonin). Clin Endocrinol. 1998;48:265–273
  195. Pellegriti G, Leboulleux S, Baudin E, et al. Long-term outcome of medullary thyroid carcinoma in patients with normal postoperative medical imaging. Br J Cancer. 2003;88:1537–1542
  196. Traugott A, Moley JF. Medullary thyroid cancer: medical management and follow-up. Curr Treat Options Oncol. 2005;6:339–346
  197. Center MM, Jemal A, Smith RA, et al. Worldwide variations in colorectal cancer. CA Cancer J Clin. 2009;59:366–378
  198. Merg A, Lynch HT, Lynch JF, et al. Hereditary colon cancer—part I. Curr Probl Surg. 2005;42:195–256
  199. You YN, Lakhani VT, Wells SA. The role of prophylactic surgery in cancer prevention. World J Surg. 2007;31:450–464
  200. Lippman SM, Hawk ET. Cancer prevention: from 1727 to milestones of the past 100 years. Cancer Res. 2009;69:5269–5284
  201. Halbert CH, Lynch H, Lynch J, et al. Colon cancer screening practices following genetic testing for hereditary nonpolyposis colon cancer (HNPCC) mutations. Arch Intern Med. 2004;164:1881–1887
  202. Dove-Edwin I, Sasieni P, Adams J, et al. Prevention of colorectal cancer by colonoscopic surveillance in individuals with a family history of colorectal cancer: 16 year, prospective, follow-up study. BMJ. 2005;331:1047
  203. Hendriks YM, de Jong AE, Morreau H, et al. Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians. CA Cancer J Clin. 2006;56:213–225
  204. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med. 2003;348:919–932
  205. Merg A, Lynch HT, Lynch JF, et al. Hereditary colorectal cancer-part II. Curr Probl Surg. 2005;42:267–333
  206. Lynch HT, Riley BD, Weissman SM, et al. Hereditary nonpolyposis colorectal carcinoma (HNPCC) and HNPCC-like families: problems in diagnosis, surveillance, and management. Cancer. 2004;100:53–64
  207. Lindor NM, Rabe K, Petersen GM, et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA. 2005;293:1979–1985
  208. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96:261–268
  209. Jarvinen HJ, Mecklin JP, Sistonen P. Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 1995;108:1405–1411
  210. Jarvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000;118:829–834
  211. Syngal S, Weeks JC, Schrag D, et al. Benefits of colonoscopic surveillance and prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer mutations. Ann Intern Med. 1998;129:787–796
  212. Delaney CP, Fazio VW, Remzi FH, et al. Prospective, age-related analysis of surgical results, functional outcome, and quality of life after ileal pouch-anal anastomosis. Ann Surg. 2003;238:221–228
  213. Rodriguez-Bigas MA, Vasen HF, Pekka-Mecklin J, et al. International Collaborative Group on HNPCC Rectal cancer risk in hereditary nonpolyposis colorectal cancer after abdominal colectomy. Ann Surg. 1997;225:202–207
  214. Sieber OM, Lipton L, Crabtree M, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 2003;348:791–799
  215. Al-Sukhni W, Aronson M, Gallinger S. Hereditary colorectal cancer syndromes: familial adenomatous polyposis and Lynch syndrome. Surg Clin North Am. 2008;88:819–844vii
  216. Lynch PM. Prevention of colorectal cancer in high-risk populations: the increasing role for endoscopy and chemoprevention in FAP and HNPCC. Digestion. 2007;76:68–76
  217. Bertario L, Presciuttini S, Sala P, et al. Italian Registry of Familial Polyposis Writing Committee Causes of death and postsurgical survival in familial adenomatous polyposis: results from the Italian Registry. Semin Surg Oncol. 1994;10:225–234
  218. Church J, Burke C, McGannon E, et al. Risk of rectal cancer in patients after colectomy and ileorectal anastomosis for familial adenomatous polyposis: a function of available surgical options. Dis Colon Rectum. 2003;46:1175–1181
  219. Lindor NM, Petersen GM, Hadley DW, et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA. 2006;296:1507–1517
  220. Schreibman IR, Baker M, Amos C, et al. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol. 2005;100:476–490
  221. Calva D, Howe JR. Hamartomatous polyposis syndromes. Surg Clin North Am. 2008;88:779–817vii
  222. Lakatos PL, Lakatos L. Risk for colorectal cancer in ulcerative colitis: changes, causes and management strategies. World J Gastroenterol. 2008;14:3937–3947
  223. Shih DQ, Targan SR. Immunopathogenesis of inflammatory bowel disease. World J Gastroenterol. 2008;14:390–400
  224. Xie J, Itzkowitz SH. Cancer in inflammatory bowel disease. World J Gastroenterol. 2008;14:378–389
  225. Oseni T, Jatoi I. An overview of the role of prophylactic surgery in the management of individuals with a hereditary cancer predisposition. Surg Clin North Am. 2008;88:739–758vi
  226. Brown CJ, Maclean AR, Cohen Z, et al. Crohn's disease and indeterminate colitis and the ileal pouch-anal anastomosis: outcomes and patterns of failure. Dis Colon Rectum. 2005;48:1542–1549
  227. Remzi FH, Church JM, Bast J, et al. Mucosectomy vs stapled ileal pouch-anal anastomosis in patients with familial adenomatous polyposis: functional outcome and neoplasia control. Dis Colon Rectum. 2001;44:1590–1596
  228. Bulow C, Vasen H, Jarvinen H, et al. Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis. Gastroenterology. 2000;119:1454–1460
  229. Kartheuser A, Stangherlin P, Brandt D, et al. Restorative proctocolectomy and ileal pouch-anal anastomosis for familial adenomatous polyposis revisited. Fam Cancer. 2006;5:241–260Discussion 261-2
  230. Nieuwenhuis MH, Bulow S, Bjork J, et al. Genotype predicting phenotype in familial adenomatous polyposis: a practical application to the choice of surgery. Dis Colon Rectum. 2009;52:1259–1263
  231. van Duijvendijk P, Vasen HF, Bertario L, et al. Cumulative risk of developing polyps or malignancy at the ileal pouch-anal anastomosis in patients with familial adenomatous polyposis. J Gastrointest Surg. 1999;3:325–330
  232. de Vos tot Nederveen Cappel WH, Buskens E, van Duijvendijk P, et al. Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect. Gut. 2003;52:1752–1755
  233. You YN, Chua HK, Nelson H, et al. Segmental vs extended colectomy: measurable differences in morbidity, function, and quality of life. Dis Colon Rectum. 2008;51:1036–1043
  234. Clinical Outcomes of Surgical Therapy Study Group. A comparison of laparoscopically assisted and open colectomy for colon cancer. N Engl J Med. 2004;350:2050–2059
  235. Kuhry E, Schwenk WF, Gaupset R, et al. Long-term results of laparoscopic colorectal cancer resection. Cochrane Database Syst Rev. 2008;CD003432
  236. Ahmed AU, Keus F, Heikens JT, et al. Open vs laparoscopic (assisted) ileo pouch anal anastomosis for ulcerative colitis and familial adenomatous polyposis. Cochrane Database Syst Rev. 2009;CD006267
  237. Lefevre JH, Parc Y, Kerneis S, et al. Risk factors for development of desmoid tumours in familial adenomatous polyposis. Br J Surg. 2008;95:1136–1139
  238. Kelly J, Condon ET, Redmond HP, et al. The benefits of a laparoscopic approach in ileal pouch anal anastomosis formation: a single institutional retrospective case-matched experience. Ir J Med Sci. 2009;179:197–200
  239. Zhang H, Hu S, Zhang G, et al. Laparoscopic vs open proctocolectomy with ileal pouch-anal anastomosis. Minim Invasive Ther Allied Technol. 2007;16:187–191
  240. Fichera A, Silvestri MT, Hurst RD, et al. Laparoscopic restorative proctocolectomy with ileal pouch anal anastomosis: a comparative observational study on long-term functional results. J Gastrointest Surg. 2009;13:526–532

PII: S0011-3840(10)00134-6

doi: 10.1067/j.cpsurg.2010.06.002

Current Problems in Surgery
Volume 47, Issue 10 , Pages 750-830 , October 2010