A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer

Familial Cancer

Volumn 3, Issue 2, 2004, Pages 123-127

  Menko, Fred H ^a   Kaspers, Gertjan L ^a   Meijer, Gerrit A ^a   Claes, Kathleen ^b   Van Hagen, Johanna M ^a   Gille, Johan J P ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Brain tumour; Caf au lait spots; Colorectal cancer; HNPCC; MSH6; Neurofibromatosis 1; Turcot syndrome

Indexed keywords

ANTINEOPLASTIC AGENT; DNA BINDING PROTEIN; G T MISMATCH BINDING PROTEIN; G-T MISMATCH-BINDING PROTEIN; MICROSATELLITE DNA;

ARTICLE; CAFE AU LAIT SPOT; CASE REPORT; CHILDHOOD CANCER; CONSANGUINEOUS MARRIAGE; EXON; GENE EXPRESSION; GENE MUTATION; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MICROSATELLITE INSTABILITY; NEUROFIBROMATOSIS; OLIGODENDROGLIOMA; PREDICTION; PRIORITY JOURNAL; RECTUM CANCER; SCHOOL CHILD; BASE MISPAIRING; BRAIN TUMOR; CHILD; GENETICS; PATHOLOGY; PEDIGREE; RECTUM TUMOR; SYNDROME;

BASE PAIR MISMATCH; BRAIN NEOPLASMS; CAFE-AU-LAIT SPOTS; CHILD; DNA-BINDING PROTEINS; HUMANS; MALE; MICROSATELLITE REPEATS; OLIGODENDROGLIOMA; PEDIGREE; RECTAL NEOPLASMS; SYNDROME;

EID: 16544395180     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:FAME.0000039893.19289.18     Document Type: Article

References (24)

1. Lynch HT, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 1999; 36: 801-18.
2. Chung DC, Rustgi AK. The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications. Ann Intern Med 2003; 138: 560-70.
3. Liu T, Yan H, Kuismanen S et al. The role of hPMS2 and hPMS1 in predisposing to colorectal cancer. Cancer Res 2001; 61: 7798-802.
4. Liu H-X, Zhou X-L, Liu T et al. The role of hMLH3 in familial colorectal cancer. Cancer Res 2003; 63: 1894-9.
5. Jagmohan-Changur S, Poikonen T, Vilkki S et al. EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer. Cancer Res 2003; 63: 154-8.
6. Wang Q, Lasset C, Desseigne F et al. Neurofibromatosis and early onset of cancers in MLH1-deficient children. Cancer Res 1999; 59: 294-7.
7. Ricciardone MD, Özçelik T, Cevher B et al. Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res 1999; 59: 290-3.
8. De Rosa M, Fasano C, Panariello L et al. Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. Oncogene 2000; 19: 1719-23.
9. Vilkki S, Tsao J-L, Loukola A et al. Extensive somatic microsatellite mutations in normal human tissue. Cancer Res 2001; 61: 4541-4.
10. Trimbath JD, Petersen GM, Erdman S et al. Café-au-lait spots and early-onset colorectal neoplasia: A variant of HNPCC? Familial Cancer 2001; 1: 101-5.
11. Whiteside D, McLeod R, Graham G et al. A homozygous germline mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. Cancer Res 2002; 62: 359-62.
12. Bougeard G, Charbonnier F, Moerman A et al. Early-onset brain tumor and lymphoma in MSH2-deficient children. Am J Hum Genet 2003; 72: 213-6.
13. Gallinger S, Aronson M, Shayan K et al. Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation. Gastroenterology 2004; 126: 576-85.
14. Friedman JM, Birch PH. Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. Am J Med Genet 1997; 70: 138-43.
15. Wang Q, Montmain G, Ruano E et al. Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. Hum Genet 2003; 112: 117-23.
16. Gutmann DH, Winkeler E, Kabbarah O et al. Mlh1 deficiency accelerates myeloid leukemogenesis in neurofibromatosis 1 (Nf1) heterozygous mice. Oncogene 2003; 22: 4581-5.
17. Gille JJP, Hogervorst FBL, Pals G et al. Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. Br J Cancer 2002; 87: 892-7.
18. Wu Y, Berends MJW, Mensink RGJ et al. Association of hereditary nonpolypsosis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. Am J Hum Genet 1999; 65: 1291-8.
19. Messiaen LM, Callens T, Mortier G et al. Extensive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 2000; 15: 541-55.
20. Wijnen J, de Leeuw W, Vasen H et al. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 1999; 23: 142-4.
21. Gorlov IP, Gorlova OY, Frazier ML et al. Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers. Am J Hum Genet 2003; 73: 1157-61.
22. Hegde MR, Blazo MA, Chin LH et al. 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 2003; 73(Suppl. 5): 391.
23. De Vos M, Hayward BE, Picton S et al. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am J Hum Genet 2004; 74: 954-64.
24. Hamilton SR, Liu B, Parsons RE et al. The molecular basis of Turcot's syndrome. N Engl J Med 1995; 332: 839-47.