Tumores colorretais hereditários

Rossi, Benedito Mauro; Pinho, Mauro de Souza Leite; Nakagawa, Wilson Toshihiko; Johnson, Luis Fernando Pinto; Lopes, Ademar

doi:10.1590/S0100-69911998000400010

Resumos

Cerca de 4% a 15% dos tumores colorretais são hereditários e divididos em dois grupos: polipose adenomatosa familiar (FAP) e câncer colorretal hereditário sem polipose (HNPCC). Ambas são doenças autossômicas dominantes, com transmissão vertical, geração após geração, sem preferência por sexo. A FAP tem penetrância praticamente completa, caracterizada por mais de cem pólipos adenomatosos no intestino grosso, que aparecem em geral após a puberdade e se transformam em câncer em todos os casos não tratados, levando o paciente ao óbito em tomo dos 45 anos de idade. Manifestações extracolônicas são comuns, tais como: pólipos em estômago e duodeno, sarcomas abdominais, pigmentação de retina, osteomas, entre outras. A FAP é causada por mutação no gene APC, que está localizado no cromossomo 5q. Seu tratamento é basicamente cirúrgico, com retirada do intestino grosso, podendo-se preservar o reto, se este não apresentar muitos pólipos. O HNPCC tem penetrância em torno de 80% e não apresenta os pólipos benignos como na FAP, que permitem identificar pacientes com o fenótipo da doença. Geralmente, o diagnóstico da lesão colônica é realizado já na fase maligna, em torno dos 45 anos de idade, com preferência para o lado direito do cólon. Pode haver associação com tumores de endométrio na mulher, estômago, pâncreas, entre outros. É causada por mutação em genes de reparo do DNA (hMSH2, hMLH1, hPMS1, hPMS2, hMSH6/GTBP). A colectomia total deve ser realizada em pacientes com câncer de cólon e HNPCC. Se o tumor estiver localizado no reto, a proctocolectomia total pode ser uma opção. Em indivíduos portadores do defeito genético predisponente ao HNPCC, porém, assintomáticos, a indicação de cirurgias profiláticas é controversa. Atualmente, podem-se identificar indivíduos portadores de defeito genético herdado tanto na FAP como no HNPCC. Esses testes baseiam-se no estudo direto dos genes responsáveis pela respectiva doença ou pela proteína produto dos mesmos. É de suma importância uma abordagem multidisciplinar de pacientes portadores de FAP ou HNPCC, pois existe uma preocupação ética muito grande na realização dos testes genéticos de predisposição, considerando suas conseqüências psicológicas e sociais.

Polipose adenomatosa familiar; FAP; Adenoma; Câncer colorretal hereditário sem polipose; HNPCC; Testes genéticos

About 15% of the colorectal tumors are hereditary. There are two main groups: the familiar adenomatous polyposis (FAP) and the non-polyposis colorectal cancer (HNPCC), both autosomal dominant diseases. Patients with FAP present hundreds to thousands of adenomas in colorectum. usually after puberty. The cause of FAP is mutation of the adenomatous polyposis coli (APC) gene, located on long arm of chromosome 5 (5q). Patients who have not undergone to colectomy, the only treatment avaiable, will develop colorectal cancer and die at the age of 45 years. Extracolonic manifestations can occur: gastric and small bowel adenomas, soft tissue tumors, retinal pigmentation. osteomas. Patients with HNPCC do not present hundreds of benign polyps, but already a solitary colorectal cancer: This disease is caused by mutations in one of the several mismatch repair genes (hMSH2, hMLHI, hPMSI, hPMS2, hPMS6/GTBP). The average age of the diagnosis is 45 years and usually the disease produces cancer in the right colon. Other carcinomas can occur: endometrial, stomach, pancreas and others. Prophylactic surgery in asymptomatic gene carriers are controversial. Nowadays it is possible to identify asymptomatic genes carriers of FAP and HNPCC by genetic testing. The analysis can be done by direct gene sequencing or by in vitro synthesized protein assay (IVSP), which finds defective truncate proteins. Genetic testing for hereditary forms of colorectal cancer requires not only an appropriate laboratory, but genetic counseling with an ethical multidisciplinary approach considering the psychological and social consequences.

Familial adenomatous polyposis; FAP; Adenoma; Hereditary non-polyposis colorectal cancer; HNPCC; Genetic tests

ARTIGO DE REVISÃO

Tumores colorretais hereditários

Hereditary colorectal tumors

Benedito Mauro Rossi, TCBC.SP^I; Mauro de Souza Leite Pinho, TCBC-SC^II; Wilson Toshihiko Nakagawa^I; Luis Fernando Pinto Johnson^I; Ademar Lopes, TCBC-SP^III

^IMédico Titular do Departamento de Cirurgia Pélvica

^IICirurgião do Departamento de Cirurgia do Hospital São José de Joinville - SC

^IIIDiretor do Departamento de Cirurgia Pélvica

^{Endereço para correspondência} Endereço para correspondência: Dr. Benedito Mauro Rossi Hospital A. C. Camargo Depto. Cirurgia Pélvica Rua Prof. Antônio Prudente, 211 01509-010 - São Paulo - SP

RESUMO

Cerca de 4% a 15% dos tumores colorretais são hereditários e divididos em dois grupos: polipose adenomatosa familiar (FAP) e câncer colorretal hereditário sem polipose (HNPCC). Ambas são doenças autossômicas dominantes, com transmissão vertical, geração após geração, sem preferência por sexo. A FAP tem penetrância praticamente completa, caracterizada por mais de cem pólipos adenomatosos no intestino grosso, que aparecem em geral após a puberdade e se transformam em câncer em todos os casos não tratados, levando o paciente ao óbito em tomo dos 45 anos de idade. Manifestações extracolônicas são comuns, tais como: pólipos em estômago e duodeno, sarcomas abdominais, pigmentação de retina, osteomas, entre outras. A FAP é causada por mutação no gene APC, que está localizado no cromossomo 5q. Seu tratamento é basicamente cirúrgico, com retirada do intestino grosso, podendo-se preservar o reto, se este não apresentar muitos pólipos. O HNPCC tem penetrância em torno de 80% e não apresenta os pólipos benignos como na FAP, que permitem identificar pacientes com o fenótipo da doença. Geralmente, o diagnóstico da lesão colônica é realizado já na fase maligna, em torno dos 45 anos de idade, com preferência para o lado direito do cólon. Pode haver associação com tumores de endométrio na mulher, estômago, pâncreas, entre outros. É causada por mutação em genes de reparo do DNA (hMSH2, hMLH1, hPMS1, hPMS2, hMSH6/GTBP). A colectomia total deve ser realizada em pacientes com câncer de cólon e HNPCC. Se o tumor estiver localizado no reto, a proctocolectomia total pode ser uma opção. Em indivíduos portadores do defeito genético predisponente ao HNPCC, porém, assintomáticos, a indicação de cirurgias profiláticas é controversa. Atualmente, podem-se identificar indivíduos portadores de defeito genético herdado tanto na FAP como no HNPCC. Esses testes baseiam-se no estudo direto dos genes responsáveis pela respectiva doença ou pela proteína produto dos mesmos. É de suma importância uma abordagem multidisciplinar de pacientes portadores de FAP ou HNPCC, pois existe uma preocupação ética muito grande na realização dos testes genéticos de predisposição, considerando suas conseqüências psicológicas e sociais.

Unitermos: Polipose adenomatosa familiar; FAP; Adenoma; Câncer colorretal hereditário sem polipose; HNPCC; Testes genéticos.

ABSTRACT

About 15% of the colorectal tumors are hereditary. There are two main groups: the familiar adenomatous polyposis (FAP) and the non-polyposis colorectal cancer (HNPCC), both autosomal dominant diseases. Patients with FAP present hundreds to thousands of adenomas in colorectum. usually after puberty. The cause of FAP is mutation of the adenomatous polyposis coli (APC) gene, located on long arm of chromosome 5 (5q). Patients who have not undergone to colectomy, the only treatment avaiable, will develop colorectal cancer and die at the age of 45 years. Extracolonic manifestations can occur: gastric and small bowel adenomas, soft tissue tumors, retinal pigmentation. osteomas. Patients with HNPCC do not present hundreds of benign polyps, but already a solitary colorectal cancer: This disease is caused by mutations in one of the several mismatch repair genes (hMSH2, hMLHI, hPMSI, hPMS2, hPMS6/GTBP). The average age of the diagnosis is 45 years and usually the disease produces cancer in the right colon. Other carcinomas can occur: endometrial, stomach, pancreas and others. Prophylactic surgery in asymptomatic gene carriers are controversial. Nowadays it is possible to identify asymptomatic genes carriers of FAP and HNPCC by genetic testing. The analysis can be done by direct gene sequencing or by in vitro synthesized protein assay (IVSP), which finds defective truncate proteins. Genetic testing for hereditary forms of colorectal cancer requires not only an appropriate laboratory, but genetic counseling with an ethical multidisciplinary approach considering the psychological and social consequences.

Key words: Familial adenomatous polyposis; FAP; Adenoma; Hereditary non-polyposis colorectal cancer; HNPCC; Genetic tests.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Recebido em 3/2/97

Aceito para publicação em 22/6/98

Trabalho realizado no Departamento de Cirurgia Pélvica do Hospital do Câncer A. C. Camargo.

1. Fearon ER. Molecular abnormalities in colon and rectal cancer. ln: Mendelsohn, Howley PM, Israel MA, Liotta LA - The molecular basis of cancer. Philadelphia W.B.Saunders, 1995. p.340-57.
2. Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. CeIl 1990;61:759-67.
³
Estimativa da Incidência e Mortalidade por Câncer no Brasil 1996: Rio de Janeiro, Pro-Onco, 1996. p.19.
4. Rossi BM, Corvello CM, Anelli A, et al. Hereditary colorectal tumors: routine care and the multidisciplinary therapeutic approach. South-American Journal of Cancer 1997;1:191-7.
5. Menko FH. Familial and hereditary colorectal cancer. In: Menko FH (ed): Genetics of colorectal cancer for clinical practice. Dordrecht, The Netherlands: Kluwer Academic Publishers, 1993, pp.58-112.
6. Distante S, Nasioulas S, Somers GR, et al. Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study. J Med Genet 1996;33:157-60.
7. Bertoni G, Sassatelli R, Nigrisoli E, et al. High prevalence of adenomas and mícroadenomas of the duodenal papilla and periampullary region in patients with familial adenomatous polyposis. Eur J Gastroenterol Hepatol 1996;8:1.201-6.
8. Valanzano R, Cama A, Volve R, et al. Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Cancer 1996;78:2.400-10.
9. Clark SK, Phillips RK. Desmoids in familial adenomatous polyposis. Br J Surg 1996;83:1.494-504.
10. Lynch HT, Fitzgibbons R Jr. Surgery, desmoid tumors, and adenomatous polyposis: case report and literature review. Am J Gastroenterol 1996;91:2.598-601.
11. Paraf F, Jothy S, Van Meir EG. Brain tumor-polyposis syndrome: two genetic diseases? J Clin Oncol 1997; 15: 2744-58.
12. Marchesa P, Fazio VW, Church JM, et al. Adrenal masses in patients with familial adenomatous polyposis. Dis Colon Rectum 1997; 40: 1.023-8.
13. Civitelli S, Tanzini G, Cetta F, et al. Papillary thyroid carcinoma in three siblings with familial adenomatous polyposis. Int J Colorectal Dis 1996; 11: 34-7.
14. Nishisho I, Nakamura Y, Miyoshi Y, et al. Mutations of chromosome 5q21 in FAP and colorectal cancer patients. Science 1991; 253: 665-9.
15. Powell SM, Petersen GM, Krush AJ, et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993; 329: 1.982-7.
16. Knudson AG Jr. Hereditary cancer, oncogenes, and anti-oncogenes. Cancer Res 1985; 45: 1437-43.
17. Powel SM, Zils N, Beazer-Barcley Y; et al. APC mutations occur early during colorectal tumorigenesis. Nature 1992; 359:235-7.
18. Erisman MD, Scott JK, Astrin SM. Evidence that the FAP gene is involved in a subset of colon cancers with a complementable defect in c-myc regulation. Proc Natl Acad Sci USA 1989;86: 4.264-8.
19. Roest PAM, Roberts RG, Sugino S, et al. Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet 1993;10:1.719-21.
20. Giardiello FM. Genetic testing in hereditary colorectal cancer. JAMA 1997;278:1.278-81.
21. Giardiello FM, Petersen GM, Piantadosi S, et al. APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis. Gut 1997;40:521-5.
22. Wu JS, Paul P, McGannon EA, et al. APC genotype, polyp number, and surgical options in familial adenomatous polyposis. Ann Surg 1998;227:57-62.
23. Milsom JW, Ludwig KA, Chuch JM, et al. Laparoscopic total abdominal colectomy with ileorectal anastomosis for familial adenomatous polyposis. Dis Colon Rectum 1997;40:675-8.
24. Parks IG, Percy JP. Resection and sutured coloanal anastomosis for rectal carcinoma. Br J Surg 1982; 69:301-4.
25. Korsgen S, Keighley MR. Causes of failure and life expectancy of the ileal pouch. Int J Colorectal Dis 1997;12:4-8.
26. Ziv Y, Church JM, Oakley JR, et al. Results after restorative proctocolectomy and ileal pouch-anal anastomosis in patients with familial adenomatous polyposis and coexisting colorectal cancer. Br J Surg 1996;83:1.578-80.
27. Richard CS, Berk T, Bapat BV, et al. Sulindac for periampullary polyps in FAP patients. Int J Colorectal Dis 1997;12:14-8.
28. Belchetz LA, Berk T, Bapat BV, et al. Changing causes of mortality in patients with familial adenomatous polyposis. Dis Colon Rectum 1996;39:384-7.
29. Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch Syndrome). An updated review. Cancer 1996;78:1.149-67.
30. Muto T, Bussey HJ, Morson BC. The evolution of cancer of the colon and rectum. Cancer 1975;36:2.251-70.
31. Jass JR, Stewart SM, Stewart J, Lane MR. Hereditary non-polyposis colorectal cancer: morphologies, genes and mutations. Mutat Res 1994;290:125-33.
32. Jarvinen HJ, Mecklin JP, Sistonen P. Screening reduces colorectal cancer rale in hereditary non-polyposis colorectal cancer (HNPCC) families. Gastroenterology 1995;108:1.405-11.
33. Fitzgibbons R, Lynch HT, Stanislav G, et al. Recognition and treatment of patients with hereditary non-polyposis colon cancer (Lynch syndromes I and II). Ann Surg 1987;206:289-95.
34. Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al. A National Cancer Institute workshop on hereditary nonpolyposis colorectaI cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997;89:1.758-62.
35. Vieira RAC, Rossi BM, Lopes A, et al. Rastreamento do câncer colorretal. Acta Oncol Bras 1997;17:40-6.
36. Kuska B. New diagnostic criteria for HNPCC are on the way. J Natl Cancer lnst 1997; 89: 11-2.
37. Ponz de Leon M, Percesepe A, Benatti P, et al. Familial and hereditary factors in colorectal cancer: a new classification of tumors of large bowel (meeting abstract). Br J Cancer 1996; 73: 22.
38. Beck NE, Tomlinson IP, Homfray T, et al. Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if Amsteram criteria are not fulfilled. Br J Surg 1997;84:233-7.
39. Weber TK, Conlon W, Petrelli NJ, et al. Genomic DNA-based hMSH2 and hMLHI mutation screening in 32 Eastern United States hereditary nonpolyposis colorectal cancer pedigrees. Cancer Res 1997;57:3.798-803.
40. Lynch HT. Is there a role for prophylatic total colectomy among hereditary nonpolyposis colorectal cancer germline mutation carriers? Dis Colon Rectum 1996;39:109-10.
41. Dunlop MG, Farrington SM, Carothers AD, et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 1997;6:105-10.
42. Senba S, Konishi F, Okamoto T, et al. Clinicopathologic and genetic features of nonfamiliaI colorectal carcinomas with DNA replication errors. Cancer 1998;82:279-85.
43. Lukish IR, Muro K, DeNobile J, et al. Prognostic significance of DNA replication errors in young patients with colorectal cancer. Ann Surg 1998;227:51-56.
44. Rodrigues-Bigas MA, Vasen HF, Pekka-Mecklin J, et al. Rectal cancer risk in hereditary nonpolyposis colorectal cancer after abdominal colectomy. Intemational Collaborative Group on HNPCC. Ann Surg 1997;225:202-7.
45. Soravia C, Bapat B, Cohen Z. Familial adenomatous polyposis (FAP) and hereditary non polyposis colorectal cancer (HNPCC): a review of clinical, genetic and therapeutic aspects. Schweiz Med Wochenschr 1997;127:682-90.
46. Church JM, Fazio VW, Lavery IC, et al. Quality of life after prophylactic colectomy and ileorectal anastomosis in patients with familial adenomatous polyposis. Dis Colon Rectum 1996; 39:1.404-8.
47. Thompson JA, Wiesner GL, Sellers TA, et al. Genetic services for familial cancer patients: a survey of National Cancer Institute Cancers Centers. J Natl Cancer Inst 1995;87:1.446-55.
48. Lynch HT, Fitzsimmons ML, Lynch J, Watson P. A hereditary cancer consultation clinic. Nebr Med J 1989;74:251-9.
49. Li FP, Garber JE, Friend SH, et al. Recommendations on predictive testing for germ line p53 mutations among cancer-prone individuals. J Nal Cancer Inst 1992;84:1.156-60.
50. Mulvihill JJ. Genetic counseling of the cancer patient. In: De Vita VT Jr, Hellman S, Rosenberg SA, editors. Cancer: principles and practice of oncology. Vol 2, 4th ed., Philadelphia: Lippincott, 1993, p.2529-37.

Endereço para correspondência:

Dr. Benedito Mauro Rossi

Hospital A. C. Camargo

Depto. Cirurgia Pélvica

Rua Prof. Antônio Prudente, 211

01509-010 - São Paulo - SP

Datas de Publicação

Publicação nesta coleção
23 Jul 2010
Data do Fascículo
Ago 1998

Histórico

Aceito
22 Jun 1998
Recebido
03 Fev 1997

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. Fearon ER. Molecular abnormalities in colon and rectal cancer. ln: Mendelsohn, Howley PM, Israel MA, Liotta LA - The molecular basis of cancer. Philadelphia W.B.Saunders, 1995. p.340-57.

[2] 2. Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. CeIl 1990;61:759-67.

[3] ³
Estimativa da Incidência e Mortalidade por Câncer no Brasil 1996: Rio de Janeiro, Pro-Onco, 1996. p.19.

[4] 4. Rossi BM, Corvello CM, Anelli A, et al. Hereditary colorectal tumors: routine care and the multidisciplinary therapeutic approach. South-American Journal of Cancer 1997;1:191-7.

[5] 5. Menko FH. Familial and hereditary colorectal cancer. In: Menko FH (ed): Genetics of colorectal cancer for clinical practice. Dordrecht, The Netherlands: Kluwer Academic Publishers, 1993, pp.58-112.

[6] 6. Distante S, Nasioulas S, Somers GR, et al. Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study. J Med Genet 1996;33:157-60.

[7] 7. Bertoni G, Sassatelli R, Nigrisoli E, et al. High prevalence of adenomas and mícroadenomas of the duodenal papilla and periampullary region in patients with familial adenomatous polyposis. Eur J Gastroenterol Hepatol 1996;8:1.201-6.

[8] 8. Valanzano R, Cama A, Volve R, et al. Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Cancer 1996;78:2.400-10.

[9] 9. Clark SK, Phillips RK. Desmoids in familial adenomatous polyposis. Br J Surg 1996;83:1.494-504.

[10] 10. Lynch HT, Fitzgibbons R Jr. Surgery, desmoid tumors, and adenomatous polyposis: case report and literature review. Am J Gastroenterol 1996;91:2.598-601.

[11] 11. Paraf F, Jothy S, Van Meir EG. Brain tumor-polyposis syndrome: two genetic diseases? J Clin Oncol 1997; 15: 2744-58.

[12] 12. Marchesa P, Fazio VW, Church JM, et al. Adrenal masses in patients with familial adenomatous polyposis. Dis Colon Rectum 1997; 40: 1.023-8.

[13] 13. Civitelli S, Tanzini G, Cetta F, et al. Papillary thyroid carcinoma in three siblings with familial adenomatous polyposis. Int J Colorectal Dis 1996; 11: 34-7.

[14] 14. Nishisho I, Nakamura Y, Miyoshi Y, et al. Mutations of chromosome 5q21 in FAP and colorectal cancer patients. Science 1991; 253: 665-9.

[15] 15. Powell SM, Petersen GM, Krush AJ, et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993; 329: 1.982-7.

[16] 16. Knudson AG Jr. Hereditary cancer, oncogenes, and anti-oncogenes. Cancer Res 1985; 45: 1437-43.

[17] 17. Powel SM, Zils N, Beazer-Barcley Y; et al. APC mutations occur early during colorectal tumorigenesis. Nature 1992; 359:235-7.

[18] 18. Erisman MD, Scott JK, Astrin SM. Evidence that the FAP gene is involved in a subset of colon cancers with a complementable defect in c-myc regulation. Proc Natl Acad Sci USA 1989;86: 4.264-8.

[19] 19. Roest PAM, Roberts RG, Sugino S, et al. Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet 1993;10:1.719-21.

[20] 20. Giardiello FM. Genetic testing in hereditary colorectal cancer. JAMA 1997;278:1.278-81.

[21] 21. Giardiello FM, Petersen GM, Piantadosi S, et al. APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis. Gut 1997;40:521-5.

[22] 22. Wu JS, Paul P, McGannon EA, et al. APC genotype, polyp number, and surgical options in familial adenomatous polyposis. Ann Surg 1998;227:57-62.

[23] 23. Milsom JW, Ludwig KA, Chuch JM, et al. Laparoscopic total abdominal colectomy with ileorectal anastomosis for familial adenomatous polyposis. Dis Colon Rectum 1997;40:675-8.

[24] 24. Parks IG, Percy JP. Resection and sutured coloanal anastomosis for rectal carcinoma. Br J Surg 1982; 69:301-4.

[25] 25. Korsgen S, Keighley MR. Causes of failure and life expectancy of the ileal pouch. Int J Colorectal Dis 1997;12:4-8.

[26] 26. Ziv Y, Church JM, Oakley JR, et al. Results after restorative proctocolectomy and ileal pouch-anal anastomosis in patients with familial adenomatous polyposis and coexisting colorectal cancer. Br J Surg 1996;83:1.578-80.

[27] 27. Richard CS, Berk T, Bapat BV, et al. Sulindac for periampullary polyps in FAP patients. Int J Colorectal Dis 1997;12:14-8.

[28] 28. Belchetz LA, Berk T, Bapat BV, et al. Changing causes of mortality in patients with familial adenomatous polyposis. Dis Colon Rectum 1996;39:384-7.

[29] 29. Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch Syndrome). An updated review. Cancer 1996;78:1.149-67.

[30] 30. Muto T, Bussey HJ, Morson BC. The evolution of cancer of the colon and rectum. Cancer 1975;36:2.251-70.

[31] 31. Jass JR, Stewart SM, Stewart J, Lane MR. Hereditary non-polyposis colorectal cancer: morphologies, genes and mutations. Mutat Res 1994;290:125-33.

[32] 32. Jarvinen HJ, Mecklin JP, Sistonen P. Screening reduces colorectal cancer rale in hereditary non-polyposis colorectal cancer (HNPCC) families. Gastroenterology 1995;108:1.405-11.

[33] 33. Fitzgibbons R, Lynch HT, Stanislav G, et al. Recognition and treatment of patients with hereditary non-polyposis colon cancer (Lynch syndromes I and II). Ann Surg 1987;206:289-95.

[34] 34. Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al. A National Cancer Institute workshop on hereditary nonpolyposis colorectaI cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997;89:1.758-62.

[35] 35. Vieira RAC, Rossi BM, Lopes A, et al. Rastreamento do câncer colorretal. Acta Oncol Bras 1997;17:40-6.

[36] 36. Kuska B. New diagnostic criteria for HNPCC are on the way. J Natl Cancer lnst 1997; 89: 11-2.

[37] 37. Ponz de Leon M, Percesepe A, Benatti P, et al. Familial and hereditary factors in colorectal cancer: a new classification of tumors of large bowel (meeting abstract). Br J Cancer 1996; 73: 22.

[38] 38. Beck NE, Tomlinson IP, Homfray T, et al. Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if Amsteram criteria are not fulfilled. Br J Surg 1997;84:233-7.

[39] 39. Weber TK, Conlon W, Petrelli NJ, et al. Genomic DNA-based hMSH2 and hMLHI mutation screening in 32 Eastern United States hereditary nonpolyposis colorectal cancer pedigrees. Cancer Res 1997;57:3.798-803.

[40] 40. Lynch HT. Is there a role for prophylatic total colectomy among hereditary nonpolyposis colorectal cancer germline mutation carriers? Dis Colon Rectum 1996;39:109-10.

[41] 41. Dunlop MG, Farrington SM, Carothers AD, et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 1997;6:105-10.

[42] 42. Senba S, Konishi F, Okamoto T, et al. Clinicopathologic and genetic features of nonfamiliaI colorectal carcinomas with DNA replication errors. Cancer 1998;82:279-85.

[43] 43. Lukish IR, Muro K, DeNobile J, et al. Prognostic significance of DNA replication errors in young patients with colorectal cancer. Ann Surg 1998;227:51-56.

[44] 44. Rodrigues-Bigas MA, Vasen HF, Pekka-Mecklin J, et al. Rectal cancer risk in hereditary nonpolyposis colorectal cancer after abdominal colectomy. Intemational Collaborative Group on HNPCC. Ann Surg 1997;225:202-7.

[45] 45. Soravia C, Bapat B, Cohen Z. Familial adenomatous polyposis (FAP) and hereditary non polyposis colorectal cancer (HNPCC): a review of clinical, genetic and therapeutic aspects. Schweiz Med Wochenschr 1997;127:682-90.

[46] 46. Church JM, Fazio VW, Lavery IC, et al. Quality of life after prophylactic colectomy and ileorectal anastomosis in patients with familial adenomatous polyposis. Dis Colon Rectum 1996; 39:1.404-8.

[47] 47. Thompson JA, Wiesner GL, Sellers TA, et al. Genetic services for familial cancer patients: a survey of National Cancer Institute Cancers Centers. J Natl Cancer Inst 1995;87:1.446-55.

[48] 48. Lynch HT, Fitzsimmons ML, Lynch J, Watson P. A hereditary cancer consultation clinic. Nebr Med J 1989;74:251-9.

[49] 49. Li FP, Garber JE, Friend SH, et al. Recommendations on predictive testing for germ line p53 mutations among cancer-prone individuals. J Nal Cancer Inst 1992;84:1.156-60.

[50] 50. Mulvihill JJ. Genetic counseling of the cancer patient. In: De Vita VT Jr, Hellman S, Rosenberg SA, editors. Cancer: principles and practice of oncology. Vol 2, 4th ed., Philadelphia: Lippincott, 1993, p.2529-37.

Brasil

Brasil

Tumores colorretais hereditários

Hereditary colorectal tumors

Resumos

Datas de Publicação

Histórico