The molecular basis and clinical aspects of Peutz-Jeghers syndrome

Cellular and Molecular Life Sciences

Volumn 55, Issue 5, 1999, Pages 735-750

  Hemminki, A ^a  

^a NONE

Author keywords

Hamartoma; Hereditary cancer; LKB1; Peutz Jeghers; Polyposis; Serine; STK11; Threonine kinase

Indexed keywords

MELANIN; PROTEIN SERINE THREONINE KINASE;

BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; CHROMOSOME 19P; COLORECTAL CANCER; FAMILIAL CANCER; GASTROINTESTINAL POLYPOSIS; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HAMARTOMA; HETEROZYGOSITY LOSS; HUMAN; PANCREAS ADENOCARCINOMA; PEUTZ JEGHERS SYNDROME; PROGNOSIS; REVIEW; SEX CORD TUMOR; SKIN COLOR; SMALL INTESTINE CANCER; STOMACH CANCER; TESTIS CANCER; UTERINE CERVIX CANCER;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 19; FEMALE; GENES, TUMOR SUPPRESSOR; HUMANS; LINKAGE (GENETICS); LOSS OF HETEROZYGOSITY; MALE; MICROSATELLITE REPEATS; MUTATION; PEUTZ-JEGHERS SYNDROME; PIGMENTATION DISORDERS; PROTEIN-SERINE-THREONINE KINASES; RISK FACTORS;

EID: 0033053940     PISSN: 1420682X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s000180050329     Document Type: Review

References (129)

1. 1 Peutz J. L. (1921) A very remarkable case of familial polyposis of mucous membrane of intestinal tract and accompanied by peculiar pigmentations of skin and mucous membrane (Dutch), Nederlands Tijdschrift voor Geneeskunde. 10: 134-146
2. 2 Jeghers H., McKusick V. A. and Katz K. H. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits. New Engl. J. Med. 241: 992-1005, 1031-1006
3. 3 Giardiello F. M., Welsh S. B., Hamilton S. R., Offerhaus G. J., Gittelsohn A. M., Booker S. V. et al. (1987) Increased risk of cancer in the Peutz-Jeghers syndrome. New Engl. J. Med. 316: 1511-1514
4. 4 Spigelman A. D., Murday V. and Phillips R. K. (1989) Cancer and the Peutz-Jeghers syndrome. Gut 30: 1588-1590
5. 5 Hemminki A., Tomlinson I., Markie D., Jarvinen H., Sistonen P., Bjorkqvist A. M. et al. (1997) Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nature Genet. 15: 87-90
6. 6 Hemminki A., Markie D., Tomlinson I., Avizienyte E., Roth S., Loukola A. et al. (1998) A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391: 184-187
7. 7 Avizienyte E., Roth S., Loukola A., Hemminki A., Lothe R. A., Stenwig A. E. et al. (1998) Somatic mutations in LKB1 are rare in sporadic colorectal and testicular tumors. Cancer Res. 58: 2087-2090
8. 8 Bignell G. R., Barfoot R., Seal S., Collins N., Warren W. and Stratton M. R. (1998) Low frequency of somatic mutations in the LKB1/Peutz-Jeghers syndrome gene in sporadic breast cancer. Cancer Res. 58: 1384-1386
9. 9 Dong S. M., Kim K. M., Kim S. Y., Shin M. S., Na E. Y., Lee S. H. et al. (1998) Frequent somatic mutations in serine/threonine kinase 11/Peutz-Jeghers syndrome gene in left-sided colon cancer. Cancer Res. 58: 3787-3790
10. 10 Park W. S., Moon Y. W., Yang Y. M., Kim Y. S., Kim Y. D., Fuller B. G. et al. (1998) Mutations of the STK11 gene in sporadic gastric carcinoma. Int. J. Oncol. 13: 601-604
11. 11 Wang Z.-J., Taylor F., Churchman M., Norbury G. and Tomlinson I. (1998) Genetic pathways of colorectal carcinogenesis rarely involve the PTEN and LKB1 genes outside the inherited hamrtoma syndromes. Am. J. Pathol. 153: 363-366
12. 12 Avizienyte E., Loukola A., Roth S., Hemminki A., Salovaara R., Arola J. et al. LKB1 somatic mutations in sporadic tumors. Am, J. Pathol., in press
13. 13 Hutchinson J. (1896) Pigmentation of lips and mouth. Arch. Surgery 7: 290
14. 14 Mallory S. B. and Stough D. B. (1987) Genodermatoses with malignant potential. Dermato. Clin. 5: 221-230
15. 15 Boardman L. A., Thibodeau S. N., Schaid D. J., Lindor N. M., McDonnell S. K., Burgart L. J. et al. (1998) Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann. Intern. Med. 128: 896-899
16. 16 Bali D., Gourley I. S., McGarrity T. J., Spencer C. A., Howard L., Frazier M. L. et al. (1995) Peutz-Jegher's syndrome maps to chromosome 1p. In: American Society of Human Genetics, abstract 1067
17. 17 Markie D., Huson S., Maher E., Davies A., Tomlinson I. and Bodmer W. F. (1996) A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map. Hum. Genet. 98: 125-128
18. 18 Tomlinson I. P., Olschwang S., Abeloviteh D., Nakamura Y., Bodmer W. F., Thomas G. et al. (1996) Testing candidate loci on chromosomes 1 and 6 for genetic linkage to Peutz-Jeghers' disease. Ann. Hum. Genet. 60: 377-384
19. 19 Fernandez Seara M. J., Martinez Soto M. I., Fernandez Lorenzo J. R., Trabazo S., Gamborino E., and Forteza Vila J. (1995) Peutz-Jeghers syndrome in a neonate. J. Pediatr. 126: 965-967
20. 20 Utsunomiya J., Gocho H., Miyanaga T., Hamaguchi E. and Kashimure A. (1975) Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med. J. 136: 71-82
21. 21 Amos C. I., Bali D., Thiel T. J., Anderson J. P., Gourley I., Frazier M. L. et al. (1997) Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p. Cancer Res. 57: 3653-3656
22. 22 Mehenni H., Blouin J.-L., Radhakrishna U., Bhardwaj S. S., Bhardwaj K., Dixit V. B. et al. (1997) Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. Am. J. Hum. Genet. 61: 1327-1334
23. 23 Nakagawa H., Koyama K., Tanaka T., Miyoshi Y., Ando H., Baba S. et al. (1998) Localization of the gene responsible for Peutz-Jeghers syndrome within a 6-cM region of chromosome 19p13.3. Hum. Genet. 102: 203-206
24. 24 Olschwang S., Markie D., Seal S., Neale K., Phillips R., Cottrel L. S. et al. (1998) Peutz-Jeghers disease: most families compatible with linkage to 19p13.3, but evidence for a second locus at a different site. J. Med. Genet. 35: 42-44
25. 25 Westerman A. M., Chong Y. K., Entius M. M., Wilson J. H. P., Velthuysen V., Lindhout D. et al. (1997) In: First joint meeting of ICG-HNPCC and LCPG, Noordwijk, The Netherlands
26. 26 Bartholomew L. G., Dahlin D. C. and Waugh J. M. (1957) Intestinal polyposis associated with mucocutaneus melanin pigmentation (Peutz-Jeghers syndrome). Gastroenterology 32: 434-451
27. 27 Bartholomew L. G., Moore C. E., Dahlin D. C. and Waugh J. M. (1962) Intestinal polyposis associated with mucocutaneous pigmentation. Surg. Gyn. Obstet. 115: 1-11
28. 28 De Facq L., De Sutter J., De Man M., Van der Spek P. and Lepoutre L. (1995) A case of Peutz-Jeghers syndrome with nasal polyposis, extreme iron deficiency anemia and hamartoma-adenoma transformation: management by combined surgical and endoscopic approach. Am. J. Gastroenterol. 90: 1330-1332
29. 29 Dormandy T. L. (1957) Gastrointestinal polyposis with mucocutaneous pigmentation (Peutz-Jeghers syndrome). New Engl. J. Med. 256: 1093-1103
30. 30 Phillips R. K. S., Spigelman A. D. and Thomson J. P. S. (1994) Familial Adenomatous Polyposis and Other Polyposis Syndromes, Edward Arnold, London
31. 31 Burdick D. and Prior J. T. (1982) Peutz-Jeghers syndrome. A clinicopathologic study of a large family with a 27-year follow-up. Cancer 50: 2139-2146
32. 32 Jancu J. (1971) Peutz-Jeghers syndrome. Involvement of the gastrointestinal and upper respiratory tracts. Am. J. Gastroenterol. 56: 545-549
33. 33 Sommerhaug R. G. and Mason T. (1970) Peutz-Jeghers syndrome and ureteral polyposis. J. Am. Med. Assoc. 211: 120-122
34. 34 Rosai J. (ed.) (1996) Ackerman's Surgical Pathology, 8th ed., Mosby, St. Louis, MO
35. 35 Fulcheri E., Baracchini P., Pagani A., Lapertosa G. and Bussolati G. (1991) Significance of the smooth muscle cell component in Peutz-Jeghers and juvenile polyps. Human Pathol. 22: 1136-1140
36. 36 Dippolito A. D., Aburano A., Bezouska C. A. and Happ R. A. (1987) Enteritis cystica profunda in Peutz-Jeghers syndrome. Report of a case and review of the literature. Dis. Colon Rectum 30: 192-198
37. 37 Mathus-Vliegen L. Follow-up of families with Peutz-Jeghers syndrome (1997) In: First joint meeting of ICG-HNPCC and LCPG, Noordwijk, The Netherlands
38. 38 Rustgi A. K. (1994b) Hereditary gastrointestinal polyposis and nonpolyposis syndromes. N. Engl. J. Med. 331: 1694-1702
39. 39 Banse-Kupin L. A. and Douglass M. C. (1986) Localization of Peutz-Jeghers macules to psoriatic plaques. Arch. Dermatol. 122: 679-683
40. 40 Yamada K., Matsukawa A., Hori Y. and Kukita A. (1981) Ultrastructural studies on pigmented macules of Peutz-Jeghers syndrome. J. Dermatol. 8: 367-377
41. 41 Kieselstein M., Herman G., Wahrman J., Voss R., Gitelson S., Feuchtwanger M. et al. (1969) Mucocutaneous pigmentation and intestinal polyposis (Peutz-Jeghers syndrome) in a family of Iraqi jews with polycystic kidney disease. With a chromosome study. Israel J. Med. Sci. 5: 81-90
42. 42 Linos D. A., Dozois R. R., Dahlin D. C. and Bartholomew L. G. (1981) Does Peutz-Jeghers syndrome predispose to gastrointestinal malignancy? A later look. Arch. Surg. 116: 1182-1184
43. 43 Perzin K. H. and Bridge M. F. (1982) Adenomatous and carcinomatous changes in hamartomatous polyps of the small intestine (Peutz-Jeghers syndrome): report of a case and review of the literature. Cancer 49: 971-983
44. 44 Shepherd N. A., Bussey H. J. and Jass J. R. (1987) Epithelial misplacement in Peutz-Jeghers polyps. A diagnostic pitfall. Am. J. Surg. Pathol. 11: 743-749
45. 45 Dozois R. R., Judd E. S., Dahlin D. C. and Bartholomew L. G. (1969) The Peutz-Jeghers syndrome. Is there a predisposition to the development of intestinal malignancy. Arch. Surg. 98: 509-517
46. 46 Kinzler K. W. and Vogelstein B. (1996) Lessons from hereditary colorectal cancer. Cell 87: 159-170
47. 47 Hizawa K., Iida M., Matsumoto T., Kohrogi N., Yao T., Fujishima M. et al. (1993a) Neoplastic transformation arising in Peutz-Jeghers polyposis. Dis. Colon Rectum 36: 953-957
48. 48 Defago M. R., Higa A. L., Campra J. L., Paradelo M., Uehara A., Torres Mazzucchi M. H. et al. (1996) Carcinoma in situ arising in a gastric hamartomatous polyp in a patient with Peutz-Jeghers syndrome. Endoscopy 28: 267
49. 49 Foley T. R., McGarrity T. J. and Abt A. B. (1988) Peutz-Jeghers syndrome: a clinicopathologic survey of the 'Harrisburg family' with a 49-year follow-up. Gastroenterology 95: 1535-1540
50. 50 Riley E. and Swift M. (1980) A family with Peutz-Jeghers syndrome and bilateral breast cancer. Cancer 46: 815-817
51. 51 Young R. H., Welch W. R., Dickersin G. R and Scully R. E. (1982) 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 50: 1384-1402
52. 52 Wilson D. M., Pitts W. C., Hintz R. L. and Rosenfeld R. G. (1986) Testicular tumors with Peutz-Jeghers syndrome. Cancer 57: 2238-2240
53. 53 Dozois R. R., Kempers R. D., Dahlin D. C. and Bartholomew L. G. (1970) Ovarian tumors associated with the Peutz-Jeghers syndrome. Ann. Surg. 172: 233-238
54. 54 Tomlinson I. P. M. and Houlston R. S. (1997) Peutz-Jeghers syndrome. J. Med. Genet. 34: 1007-1011
55. 55 Wong S. S. and Rajakulendran S. (1996) Peutz-Jeghers syndrome associated with primary malignant melanoma of the rectum. Br. J. Dermatol. 135: 439-442
56. 56 Liaw D., Marsh D. J., Li J., Dahia P. L. M., Wang S. I., Zheng Z. et al. (1997) Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nature Genet. 16: 64-67
57. 57 Marsh D. J., Dahia P. L. M., Zheng Z., Liaw D., Parsons R., Gorlin R. J. et al. (1997) Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nature Genet. 16: 333-334
58. 58 Guldberg P., Straten P. T., Birck A., Ahrenkiel V., Kirkin A. F. and Zeuthen J. (1997) Disruption of the MMAC1/ PTEN gene by deletion or mutation is a frequent event in malignant melanoma. Cancer Res. 57: 3660-3663
59. 59 Kong D., Suzuki A., Zou T.-T., Sakurada A., Kemp L. W., Wakatsuki S. et al. (1997) PTEN1 is frequently mutated in primary endometrial carcinomas. Nature Genet. 17: 143-144
60. 60 Li J., Yen C., Liaw D., Podsypanina K., Bose S., Wang S. I. et al. (1997) PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast and prostate cancer. Science 275: 1943-1947
61. 61 Steck P. A., Pershouse M. A., Jasser S. A., Alfred Yung W. K., Lin H., Ligon A. H. et al. (1997) Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nature Genet. 15: 356-362
62. 62 Teng D. H.-F., Hu R., Lin H., Davis T., Iliev D., Frye D. et al. (1997) MMAC1/PTEN mutations in primary tumor specimens and tumor cell lines. Cancer Res. 57: 5221-5225
63. 63 Olschwang S., Serova-Sinilnikova O. M., Lenoir G. and Thomas G. (1998) PTEN germline mutations in juvenile polyposis coli. Nature Genet. 18: 12-14
64. 64 Marsh D. J., Roth S., Lunetta K. L., Hemminki A., Dahia P. L. M., Sistonen P. et al. (1997) Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. Cancer Res. 57: 5017-5021
65. 65 Howe J. R., Roth S., Ringold J. C., Summers R. W., Järvinen H. J., Sistonen P. et al. (1998) Mutations in the Smad4/DPC4 gene in juvenile polyposis. Science 280: 1086-1088
66. 66 Desai D. C., Murday V., Phillips R. K. S., Neale K. F., Milla P., Hodgson S. V. et al. (1998) A survey of phenotypic features in juvenile polyposis. J. Med. Genet. 35: 476-481
67. 67 Aaltonen L. A., Salovaara R., Kristo P., Canzian F., Hemminki A., Peltomäki P. et al. (1998) Incidence of hereditary nonpolyposis colorectal cancer, and molecular screening for the disease. New Engl. J. Med. 338: 1481-1487
68. 68 de la Chapelle A. and Peltomäki P. (1995) Genetics of hereditary colon cancer. Ann. Rev. Genet. 29: 329-348
69. 69 Knudson A. G. (1993) Antioncogenes and human cancer. Proc. Natl. Acad. Sci. USA 90: 10914-10921
70. 70 Knudson A. G. (1971) Mutation and cancer: statistical study of retinoblastoma. Proc. Natl. Acad. Sci. USA 68: 820-823
71. 71 Kallioniemi A., Kallioniemi O.-P., Sudar D., Rutovitz D., Gray J. W., Waldman F. et al. (1992) Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258: 818-821
72. 72 Kallioniemi O.-P., Kallioniemi A., Piper J., Isola J., Waldman F. M., Gray J. W. et al. (1994) Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors. Genes Chromosomes Cancer 10: 231-243
73. 73 Patterson M. J. and Kernen J. A. (1985) Epithelioid leiomyosarcoma originating in a hamartomatous polyp from a patient with Peutz-Jeghers syndrome. Gastroenterology 88: 1060-1064
74. 74 Boland C. R., Sato J., Appelman H. D., Bresalier R. S. and Feinberg A. P. (1995) Microallelotyping defines the sequence and tempo of allelic losses at tumour suppressor gene loci during colorectal cancer progression. Nature Med. 1: 902-909
75. 75 Jen J., Powell S. M., Papadopoulos N., Smith K. J., Hamilton S. R., Vogelstein B. et al. (1994) Molecular determinants of dysplasia in colorectal lesions. Cancer Res. 54: 5523-5526
76. 76 Powell S. M., Zilz N., Beazer-Barclay Y., Bryan T. M., Hamilton S. R., Thibodeau S. N. et al. (1992) APC mutations occur early during colorectal tumorigenesis. Nature 359: 235-237
77. 77 Smith A. J., Stern H. S., Penner M., Hay K., Mitri A., Bapat B. V. et al. (1994) Somatic Apc and K-RAS codon 12 mutations in aberrant crypt foci from human colons. Cancer Res. 54: 5527-5530
78. 78 Shibata D., Hawes D., Li Z.-H., Hernandez A. M., Spruck C. H. and Nichols P. W. (1992) Specific genetic analysis of microscopic tissue after selective ultraviolet radiation fractionation and the polymerase chain reaction. Am. J. Pathology 141: 539-543
79. 79 Boardman L., Schwartz D., Couch F., Burgart L. and Thibodeau S. (1998). STK11 mutations occur in some but not all cases of Peutz-Jeghers syndrome. American Society of Human Genetics, meeting abstract Denver, CO, USA
80. 80 Mehenni H., Gehring C., Nezu J.-I., Oku A., Shimane M., Rossier C. et al. (1998) Loss of LKB1 kinase activity in Peutz-Jeghers syndrome and evidence for allelic and locus heterogeneity. Am. J. Hum. Genet. 63: 1641-1650
81. 81 Lawrence Livermore National Laboratories (1997) http:// www-bio.llnl.gov/
82. 82 Ashworth L. K. (1995) An integrated metric physical map of human chromosome 19. Nature Genet. 11: 422-427
83. 83 Schuler G. D., Boguski M. S., Stewart E. A., Stein L. D., Gyapay G., Rice K. et al. (1996) A gene map of the human genome. Science 274: 540-546
84. 84 Nezu J. (1996) Molecular cloning of a novel serine/threonine protein kinase expressed in human fetal liver (direct submission to GenBank, unpublished), http://www.ncbi.nlm.nih. gov/irx/cgi-bin/birx_doc?genbank + 65606
85. 85 Jenne D. E., Reimann H., Nezu J.-I., Friedel W., Loff S., Jeschke R. et al. (1998) Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nature Genet. 18: 38-43
86. 86 GenBank, http://www.ncbi.nlm.nih.gov/index.html
87. 87 Su J.-Y., Erikson E. and Maller J. I., (1996) Cloning and characterization of a novel serine/threonine protein kinase expressed in early Xenopus embyos. J. Biol. Chem. 271: 14430-14437
88. 88 NCBI BLAST, http://www.ncbi.nlm.nih.gov/BLAST/
89. 89 Ko M. S. H. Systematic analyses of mouse genes expressed in embryo implantation site (unpublished), http://www. ncbi.nlm.nih.gov/irx/cgi-bin/birx_doc?genbank + 431188
90. 90 Hemminki A. (1998) Inherited Predisposition to Gastrointestinal Cancer: The Molecular Backgrounds of Peutz-Jeghers Syndrome and Hereditary Non-polyposis Colorectal Cancer. Hakapaino, Helsinki, Finland
91. 91 Nakagawa H., Koyama K., Miyoshi Y., Ando H., Baba S., Watatani M. et al. (1998b) Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome. Hum. Genet. 103: 168-172
92. 92 Ylikorkala A., Avizienyte E., Tomlinson I. P. M., Tiainen M., Roth S., Loukola A. et al. (1999) Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. Hum. Mol. Genet. 8: 45-51
93. 93 Resta N., Simone C., Mareni C., Montera M., Gentile M., Susca F. et al. (1998) STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer. Cancer Res. 58: 4799-4801
94. 94 Nijhawan M., Nijhawan S., Verma A. and Bhargava M. (1994) Peutz-Jegher's syndrome with polydactyly. Indian J. Gastroenterol. 13: 72
95. 95 Hagstrom W. J. and Parsons R. W. (1986) Is there an association between Peutz-Jeghers syndrome and cleft lip? Plastic Reconstr. Surg. 78: 698
96. 96 Li D.-M. and Sun H. (1997b) TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor β. Cancer Res. 57: 2124-2129
97. 97 Akiyama Y., Iwanaga R., Saitoh K., Shiba K., Ushio K., Ikeda E. et al. (1997a) Transforming growth factor beta type II receptor gene mutations in adenomas from hereditary nonpolyposis colorectal cancer. Gastroenterology 112: 33-39
98. 98 Markowitz S., Wang J., Myeroff L., Parsons R., Sun L., Lutterbaugh J. et al. (1995) Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science 268: 1336-13 38
99. 99 Parsons R., Myeroff L. L., Liu B., Willson J. K., Markowitz S. D., Kinzler K. W. et al. (1995b) Microsatellite instability and mutations of the transforming growth factor beta type II receptor gene in colorectal cancer. Cancer Res. 55: 5548-55 50
100. 100 Lu S. -L., Kawabata M., Imamura T., Akijama Y., Nomizu T., Miyazona K. et al. (1998) HNPCC associated with germline mutation in the TGF-B type II receptor gene. Nature Genet. 19: 17-18
101. 101 Takaku K., Oshima M., Miyoshi H., Matsui M., Seldin M. F. and Taketo M. M. (1998) Intestinal tumorigenesis in compound mutant mice of both Dpc4 (Smad4) and Apc genes. Cell 92: 645-656
102. 102 Eng C. (1996) Seminars in Medicine of the Beth Israel Hospital, Boston: The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. New Engl. J. Med. 335: 943-951
103. 103 Zuo L., Weger J., Yang Q., Goldstein A. M., Tucker M. A., Walker G. J. et al. (1996) Germline mutations in the p16ink4a binding domain of CDK4 in familial melanoma. Nature Genet. 12: 97-99
104. 104 Schmidt L., Duh F.-M., Chen F., Kishida T., Glenn G., Choyke P. et al. (1997) Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Nature Genet. 16: 68-73
105. 105 Haber D. and Harlow E. (1997) Tumour-suppressor genes: evolving definitions in the genomic age. Nature Genet. 16: 320-322
106. 106 Lee J. Y., Dong S. M., Kim H. S., Kim S. Y., Na E. Y., Shin M. S. et al. (1998) A distinct region of chromosome 19p13.3 associated with the sporadic form of adenoma malignum of the uterine cervix. Cancer Res. 58: 1140-1143
107. 107 Lancaster J. M., Wooster R., Mangion J., Phelan C. M., Cochran C., Gumbs C. et al. (1996) BRCA2 mutations in primary breast and ovarian cancers. Nature Genet. 13: 238-240
108. 108 Futreal P. A., Liu Q., Shattuck-Eidens D., Cochran C., Harshman K., Tavtigian S. et al. (1994) BRCA 1 mutations in primary breast and ovarian carcinomas. Science 266: 120-122
109. 109 Teng D. H.-F., Bogden R., Mitchell J., Baumgard M., Bell R., Berry S. et al. (1996) Low incidence of BRCA mutations in breast carcinoma and other cancers. Nature Genet. 13: 241-244
110. 110 Miki Y., Katagiri T., Kasumi F., Yoshimoto T. and Nakamura Y. (1996) Mutation analysis in the BRCA2 genein primary breast cancers. Nature Genet. 13: 245-247
111. 111 Wu Y., Nyström-Lahti M., Osinga J., Looman W. G., Peltomäki P., Aaltonen L. A. et al. (1997) MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimesional DNA electrophoresis. Genes Chromosomes Cancer 18: 269-278
112. 112 Konishi M., Kikuchi-Yanoshita R., Tanaka K., Muraoka M., Onda A., Okumura Y. et al. (1996) Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer. Gastroenterology 111: 307-317
113. 113 Liu B., Nicolaides N. C., Markowitz S., Willson J. K. V., Parsons R. E., Jen J, et al. (1995) Mismatch repair defects in sporadic colorectal cancers with microsatellite instability. Nature Genet. 9: 48-55
114. 114 Dobrovic A. and Simpendorfer D. (1997) Methylation of the BRCA1 gene in sporadic breast cancer. Cancer Res, 57: 3347-3350
115. 115 Kane M. F., Loda M., Gaida G. M., Lipman J., Mishra R., Goldman H. et al. (1997) Methylation of the hMLHl promoter correlates with lack of expression of hMLHl in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res. 57: 808-811
116. 116 Thibodeau S. N., French A. J., Cunningham J. M., Tester D., Burgart L. J., Roche P. C. et al. (1998) Microsatellite instability in colorectal cancer-different mutator phenotypes and the principal involvement of hmlhl. Cancer Res. 58: 1713-1718
117. 117 Thibodeau S. N., French A. J., Roche P. C., Cunningham J. M., Tester D. J., Lindor N. M. et al. (1996) Altered expression of hMSH2 and hMLHl in tumors with microsatellite instability and genetic alterations in mismatch repair genes. Cancer Res. 56: 4836-4840
118. 118 Cunningham J. M., Christensen E. R., Tester D. J., Kim C. Y., Roche P. C., Burgart L. J. et al. (1998) Hypermethylation of the hmlhl promoter in colon cancer with microsatellite instability. Cancer Res. 58: 3455-3460
119. 119 van Coevorden F., Mathus-Vliegen E. M. and Brummelkamp W. H. (1986) Combined endoscopic and surgical treatment in Peutz-Jeghers syndrome. Surg. Gyn. Obstet. 162: 426-428
120. 120 Rebsdorf Pedersen I., Hartvigsen A., Fischer Hansen B., Toftgaard C., Konstantin-Hansen K. and Bullow S. (1994) Management of Peutz-Jeghers syndrome. Experience with patients from the Danish Polyposis Register. Int. J. Colorectal Dis. 9: 177-179
121. 121 Rossini F. P. and Pennazio M. (1996) Enteroscopy and Peutz Jeghers syndrome. Am. J. Gastroenterol. 91: 2252-2253
122. 122 Rossini F. P., Arrigoni A. and Pennazio M. (1996) Clinical enteroscopy. J. Clin. Gastroenterol. 22: 231-235; discussion 235-236
123. 123 Spigelman A. D. and Phillips R. K. (1989) Management of the Peutz-Jeghers patient. J. Roy. Soc. Med. 82: 681
124. 124 Parker M. C. and Michell M. J. (1996) Polyposis: the Peutz-Jeghers syndrome. Br. J. Surg. 83: 874-875
125. 125 Harper P. S. and Clarke A. J. (1997) Genetics, Society and Clinical Practise, pp. 15-29, BIOS Scientific Publishers, Oxford
126. 126 Järvinen H. J., Mecklin J.-P. and Sistonen P. (1995) Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 108: 1405-1411
127. 127 Laughlin E. H. (1991) Benign and malignant neoplasms in a family with Peutz-Jeghers syndrome: study of three generations. South. Med. J. 84: 1205-1209
128. 128 Hizawa K., Iida M., Matsumoto T., Kohrogi N., Kinoshita H., Yao T. et al. (1993) Cancer in Peutz-Jeghers syndrome. Cancer 72: 2777-2781
129. 129 Spigelman A. D., Arese P. and Phillips R. K. S. (1995) Polyposis: the Peutz-Jeghers syndrome. Br. J. Surg. 82: 1311-1314