Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations

Familial Cancer

Volumn 4, Issue 4, 2005, Pages 323-333

  Bandipalliam, Prathap ^a  

^a DANA FARBER CANCER INSTITUTE   (United States)

Author keywords

Hematologic malignancies; Hereditary nonpolyposis colon cancer; Mismatch repair gene mutations; Neurofibromatosis

Indexed keywords

NEUROFIBROMIN; PROTEIN MLH1;

CAFE AU LAIT SPOT; CANCER LOCALIZATION; CLINICAL FEATURE; COLON CANCER; ENDOMETRIUM CANCER; FAMILIAL CANCER; GASTROINTESTINAL TUMOR; GENE MUTATION; GENETIC ANALYSIS; HEMATOLOGIC MALIGNANCY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LEUKEMIA; LEUKEMOGENESIS; LYMPHOMA; MEDICAL LITERATURE; MISMATCH REPAIR; MUIR TORRE SYNDROME; MULTIPLE CANCER; NEUROFIBROMATOSIS; ONSET AGE; OVARY CANCER; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REVIEW; SEBACEOUS GLAND TUMOR; SYNDROME; URINARY TRACT CANCER;

ADULT; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEMATOLOGIC NEOPLASMS; HUMANS; MALE; MIDDLE AGED; MUTATION; NEUROFIBROMATOSES; NUCLEAR PROTEINS; PEDIGREE; SYNDROME;

EID: 29144462041     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-005-8351-6     Document Type: Review

References (35)

1. HT Lynch W Kimberling WA Albano 1985 Hereditary nonpolyposis colorectal cancer (Lynch syndrome I and II). I. Clinical description of resource Cancer 56 4 934 38
2. G Marra CR Boland 1995 Hereditary nonpolyposis colorectal cancer: The syndrome, the genes, and historical perspectives J Natl Cancer Inst 87 15 1114 25
3. HF Vasen 2000 Clinical diagnosis and management of hereditary colorectal cancer syndromes J Clin Oncol 18 21 Suppl 81S 92S
4. F Giardiello JD Brensinger GM Petersen 2001 AGA Technical review on hereditary colorectal cancer and genetic testing Gastroenterology 121 198 213
5. M Rodriguez-Bigas CR Boland SR Hamilton 1997 A National Cancer Institute workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting highlights and Bethesdaguidelines J Natl Cancer Inst 89 23 1758 62
6. A Umar CR Boland JP Terdiman 2004 Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability J Natl Cancer Inst 96 4 261 8
7. JP Terdiman JR Gum Jr. PG Conrad 2001 Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing Gastroenterology 120 1 21 30
8. HT Lynch RM Fusaro 1999 The Muir-Torre syndrome in kindreds with hereditary nonpolyposis colorectal cancer (Lynch syndrome): A classic obligation in preventive medicine J Am Acad Dermatol 41 5 Pt 1 797 9
9. A Suspiro P Fidalgo M Cravo 1998 The Muir-Torre syndrome: A rare variant of hereditary nonpolyposis colorectal cancer associated with hMSH2 mutation Am J Gastroenterol 93 9 1572 4
10. FH Menko GL Kaspers GA Meijer 2004 A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer Fam Cancer 3 2 123 7
11. MR Hegde MA Blazo LH Chin 2003 A novel homozygous mutation in the MSH6 gene in a Turcot syndrome family characterized by pediatric glioblastoma multiforme, lymphoma, colorectal cancer and neurofibromatosis Am J Hum Genet 73 Suppl. 5 237
12. M De Vos BE Hayward S Picton 2004 Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome Am J Hum Genet 74 5 954 64
13. M Miyaki J Nishio M Konishi 1997 Drastic genetic instability of tumors and normal tissues in Turcot syndrome Oncogene 15 23 2877 81
14. S Gallinger M Aronson K Shayan 2004 Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation Gastroenterology 126 2 576 85
15. MD Ricciardone T Ozcelik B Cevher 1999 Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1 Cancer Res 59 2 290 3
16. D Whiteside R [tmp] McLeod G Graham 2002 A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots Cancer Res 62 2 359 62
17. Q Wang C Lasset F Desseigne 1999 Neurofibromatosis and early onset of cancers in hMLH1-deficient children Cancer Res 59 2 294 7
18. TE Raevaara AM Gerdes KE Lonnqvist 2004 HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1 Genes Chromosomes Cancer 40 3 261 5
19. S Vilkki JL Tsao A Loukola 2001 Extensive somatic microsatellite mutations in normal human tissue Cancer Res 61 11 4541 4
20. JD Trimbath GM Petersen SH Erdman 2001 Café-au-lait spots and early onset colorectal neoplasia: A variant of HNPCC? Fam Cancer 1 2 101 5
21. SR Hamilton B Liu RE Parsons 1995 The molecular basis of Turcot's syndrome N Engl J Med 332 13 839 47
22. MD Taylor J Perry MC Zlatescu 1999 The hPMS2 exon 5 mutation and malignant glioma. Case report J Neurosurg 90 5 946 50
23. M De Rosa C Fasano L Panariello 2000 Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene Oncogene 19 13 1719 23
24. G Bougeard F Charbonnier A Moerman 2003 Early onset brain tumor and lymphoma in MSH2-deficient children Am J Hum Genet 72 1 213 6
25. S Syngal 2000 Hereditary nonpolyposis colorectal cancer: A call for attention J Clin Oncol 18 11 2189 92
26. BR Korf 2002 Clinical features and pathobiology of neurofibromatosis 1 J Child Neurol 17 8 573 7 discussion 602-4, 646-51
27. X Qin H Zhou L Liu SL Gerson 1999 Transgenic expression of human MGMT blocks the hypersensitivity of PMS2-deficient mice to low dose MNU thymic lymphomagenesis Carcinogenesis 20 9 1667 73
28. X Qin L Liu SL Gerson 1999 Mice defective in the DNA mismatch gene PMS2 are hypersensitive to MNU induced thymic lymphoma and are partially protected by transgenic expression of human MGMT Oncogene 18 30 4394 400
29. AH Reitmair M Redston JC Cai 1996 Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice Cancer Res 56 16 3842 9
30. SM Baker CE Bronner L Zhang 1995 Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis Cell 82 2 309 19
31. N de Wind M Dekker A Berns 1995 Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer Cell 82 2 321 30
32. W Edelmann K Yang A Umar 1997 Mutation in the mismatch repair gene Msh6 causes cancer susceptibility Cell 91 4 467 77
33. TA Prolla SM Baker AC Harris 1998 Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair Nat Genet 18 3 276 9
34. Q Wang G Montmain E Ruano 2003 Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type Hum Genet 112 2 117 23
35. DH Gutmann E Winkeler O Kabbarah 2003 Mlh1 deficiency accelerates myeloid leukemogenesis in neurofibromatosis 1 (Nf1) heterozygous mice Oncogene 22 29 4581 5