Clinical and molecular diagnosis of hereditary non-polyposis colorectal cancer: Problems and pitfalls in an extended pedigree

Italian Journal of Gastroenterology and Hepatology

Volumn 31, Issue 6, 1999, Pages 476-480

  De Ponz Leon, M ^a   Benatti, P ^a   Percesepe, A ^a   Rossi, G ^a   Santarosa, M ^a   Pedroni, M ^a   Roncucci, L ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

Geneological tree; Hereditary non polyposis colorectal cancer; Lynch syndrome

Indexed keywords

NUCLEOTIDE; TAMOXIFEN;

ADULT; ARTICLE; ASCENDING COLON; AUTOSOMAL DOMINANT DISORDER; BASE MISPAIRING; BREAST CANCER; CANCER RISK; CLINICAL ARTICLE; CLINICAL FEATURE; COLORECTAL CANCER; DECISION MAKING; DNA REPAIR; ENDOMETRIUM CARCINOMA; ENVIRONMENTAL FACTOR; FAMILIAL CANCER; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HEREDITY; HUMAN; MALE; MICROSATELLITE INSTABILITY; MOLECULAR BIOLOGY; ONSET AGE; OPEN READING FRAME; PATIENT COMPLIANCE; PATIENT RIGHT; PEDIGREE;

ADULT; AGED; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA; FEMALE; GENETIC TECHNIQUES; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RISK FACTORS;

EID: 0032841379     PISSN: 11258055     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. Lynch HT, Smyrk T. Hereditary Nonpolyposis Colorectal Cancer (Lynch syndrome). An updated review. Cancer 1996;78:1149-67.
2. Ponz de Leon M. Prevalence of Hereditary Nonpolyposis Colorectal Carcinoma (HNPCC). Ann Med 1994;26:209-14.
3. Bellacosa A, Genuardi M, Anti M, Viel A, Ponz de Leon M. Hereditary Nonpolyposis Colorectal Cancer: review of clinical, molecular genetics, and counseling aspects. Am J Med Genet 1996;62:353-64.
4. Peltomäki P, Aaltonen LA, Sistonen P, Pylkkänen L, Mecklin JP, Järvinen H, et al. Genetic mapping of a locus predisposing to human colorectal cancer. Science 1993;260:810-2.
5. Peltomäki PT. Genetic basis of Hereditary Nonpolyposis Colorectal Carcinoma (HNPCC). Ann Med 1994;26:215-9.
6. Aaltonen LA, Peltomäki P, Leach FS, Sistonen P, Pylkkänen L, Mecklin JP, et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993;260:812-6.
7. Okamoto T, Konishi F, Kojima M, Senba S, Kanazawa K, Tsukamoto T. Significance of microsatellite instability in different types of early-stage nonfamilial colorectal carcinomas. Dis Colon Rectum 1998;41:1385-91.
8. Ponz de Leon M, Benatti P, Percesepe A, Di Gregorio C, Fante R, Losi L, et al. Epidemiology of cancer of the large bowel - The 12-year experience of a specialized Registry in Northern Italy. Ital J Gastroenterol Hepatol 1999;31:10-8.
9. Ponz de Leon M, Benatti P, Pedroni M, Sassatelli R, Roncucci L. Risk of cancer revealed by follow-up families with hereditary non-polyposis colorectal cancer: a population-based study. Int J Cancer 1993;55:202-7.
10. Ponz de Leon M, Sassatelli R, Benatti P, Roncucci L. Identification of Hereditary Nonpolyposis Colorectal Cancer in the general population. Cancer 1993;71:3493-501.
11. Viel A, Genuardi M, Capozzi E, Leonardi F, Bellacosa A, Para-vatou-Petsotas M, et al. Characterization of MSH2 and MLH1 mutations in Italian families with Hereditary Nonpolyposis Colorectal Cancer. Gene Chromosome Cane 1997;18:8-18.
12. Pedroni M, Tamassia MG, Percesepe A, Roncucci L, Benatti P, Lanza G, et al. Microsatellite instability in multiple colorectal tumors. Int J Cancer 1999;81:1-5.
13. Percesepe A, Kristo P, Aaltonen LA, Ponz de Leon M, de la Chapelle A, Peltomäki P. Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability. Oncogene 1998;17:157-63.
14. Ponz de Leon M. Genetic basis of tumour development. Ital J Gastroentrol 1996;28:232-45.
15. Modica S, Roncucci L, Benatti P, Gafà L, Tamassia MG, Dardanoni L, et al. Familial aggregation of tumors and detection of hereditary non-polyposis colorectal cancer in 3-year experience of 2 population-based colorectal-cancer registries. Int J Cancer 1995;62:685-90.
16. Ponz de Leon M, Della Casa G, Benatti P, Percesepe A, Di Gregorio C, Fante R, et al. Frequency and type of colorectal tumors in asymptomatic high-risk individuals in families with hereditary nonpolyposis colorectal cancer. Cancer Epidem Biomar 1998;7:639-41.
17. Lynch HT, Paulson J, Severin M, Lynch J, Lynch P. Failure to diagnose hereditary colorectal cancer and its medicolegal implications. A hereditary nonpolyposis colorectal cancer case. Dis Colon Rectum 1999;42:31-5.
18. Benatti P, Sassatelli R, Roncucci L, Pedroni M, Fante R, Di Gregorio C, et al. Tumour spectrum in hereditary non-polyposis colorectal cancer (HNPCC) and in families with "suspected HNPCC". A population-based study in Northern Italy. Int J Cancer 1993;54:371-7.
19. Lynch HT, Smyrk T, Lynch J. An update of HNPCC (Lynch syndrome). Cancer Genet Cytogen 1997;93:84-99.
20. Risinger JI, Barrett JC, Watson P, Lynch HT, Boyd J. Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the Hereditary Nonpolyposis Colorectal Carcinoma syndrome. Cancer 1996;77:1836-43.
21. Lynch HT, Fusaro RM, Lynch J. Hereditary cancer in adults. Cancer Detect Prev 1995;19:219-33.
22. Mecklin JP, Järvinen HJ. Tumor spectrum in cancer family syndrome. (Hereditary Nonpolyposis Colorectal Cancer). Cancer 1991;68:1109-12.
23. Vasen HFA, Sanders EACM, Taal BG, Nagengast FM, Griffioen G, Menko FH, et al. The risk of brain tumours in hereditary non-polyposis colorectal cancer (HNPCC). Int J Cancer 1996;65:422-5.
24. Hortobagyi GN. Treatment of breast cancer. N Engl J Med 1998;339:974-84.
25. Eddy DM. Breast cancer screening in women younger than 50 years of age: what's next? Ann Int Med 1997;127:1035-6.
26. Rhyu MS. Molecular mechanisms underlying hereditary nonpolyposis colorectal carcinoma. J Natl Cancer I 1996;88:240-51.
27. Knudson AG. Hereditary cancer: theme and variations. J Clin Oncol 1997;10:3280-7.
28. Goldhirsch A, Glick JH, Gelber RD, Senn HJ. Meeting highlights:international consensus panel on the treatment of primary breast cancer. J Natl Cancer I 1998;90:1601-8.
29. Osborne CK. Tamoxifen in the treatment of breast cancer. N Engl J Med 1998;26:1609-18.
30. Rose PG. Endometrial carcinoma. N Engl J Med 1996;335:640-9.
31. Fisher B, Dignam J, Wolmark N, DeCillis A, Emir B, Wickerham DL, et al. Tamoxifen and chemotherapy for lymph node-negative, estrogen receptor-positive breast cancer. J Natl Cancer I 1997;89:1673-82.