New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife

Cancer Letters

Volumn 244, Issue 2, 2006, Pages 268-273

  Medina Arana, Vicente ^a   Barrios, Ysamar ^a   Fernández Peralta, Antonia ^b   Herrera, Mercedes ^b   Chinea, Nancy ^a   Lorenzo, Nieves ^a   Jiménez, Alejandro ^a   Martín López, Juana Victoria ^a   González Hermoso, Fernando ^a   Salido, Eduardo ^a   González Aguilera, Juan J ^b  

^a HOSPITAL UNIVERSITARIO DE CANARIAS   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

Colorectal cancer; Founding mutation; HNPCC; Isolated population; MSH2

Indexed keywords

ADULT; ALLELE; AMINO ACID ANALYSIS; ARTICLE; COLORECTAL CANCER; CONTROLLED STUDY; GENE MUTATION; GENE SILENCING; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MISMATCH REPAIR; NUCLEOTIDE SEQUENCE; POPULATION RESEARCH; PRIORITY JOURNAL;

COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HOMOZYGOTE; HUMANS; MALE; MUTATION; MUTS HOMOLOG 2 PROTEIN; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SPAIN;

EID: 33749255359     PISSN: 03043835     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.canlet.2005.12.033     Document Type: Article

References (19)

1. Dunlop M.G., Farrington S.M., Carothers A.D., Wyllie A.H., Sharp L., Burn J., et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum. Mol. Genet. 6 (1997) 105-110
2. Aarnio M., Sankila R., Pukkala E., Salovaara R., Aaltonen L.A., de la Chapelle A., et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int. J. Cancer 81 (1999) 214-218
3. Vasen H.F.A., Mecklin J.P., Meera-Khan P., and Lynch H.T. The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis. Colon Rectum 34 (1991) 424-425
4. Vasen H.F.A., Watson P., Mecklin J.P., Lynch H.T., and the ICG-HNPCC. New clinical criteria for hereditary non-polyposis colorectal cancer (HNPCC, lynch syndrome) proposed by the international collaborative group on HNPCC. Gastroenterology 116 (1999) 1450-1456
5. Peltomaki P. Deficient DNA mismatch repair: a common etiologic factor for colon cancer. Hum. Mol. Genet. 10 (2001) 735-740
6. Heutink P., and Oostra B.E. Gene finding in genetically isolated populations. Hum. Mol. Genet. 11 (2002) 2507-2515
7. Chan T.L., Chan Y.W., Ho J.V.C., Chan C., Chan A.S.Y., Chan E., et al. MSH2 c.14521455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population. Am. J. Hum. Genet. 74 (2004) 1035-1042
8. Nystrom-Lahti M., Kristo P., Nicolaides N.C., Chang S.Y., Aaltonen L.A., Moisio A.L., et al. Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat. Med. 1 (1995) 1203-1206
9. Moisio A.L., Sistonen P., Weissenbach J., de la Chapelle A., and Peltomaki P. Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am. J. Hum. Genet. 59 (1996) 1243-1251
10. Medina-Arana V., Barrios del Pino I., González-Aguilera J.J., Fernández-Peralta A., Jiménez Sosa A., Salido Ruiz E., et al. Tumour spectrum of non-polyposis colorectal cancer (lynch syndrome) on the Island of Tenerife and influence of insularity on the clinical manifestations. Eur. J. Cancer Prev. 13 (2004) 27-32
11. Boland C.R., Thibodeau S.N., Hamilton S.R., Sidransky D., Eshleman J.R., Burt R.W., et al. A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite in colorectal cancer. Cancer Res. 58 (1998) 5248-5257
12. González-Aguilera J.J., Nejda N., Fernández F.J., Medina V., González-Hermoso F., Barrios Y., et al. Genetic alterations and MSI status in primary, synchronous, and metachronous tumours in a family with hereditary non polyposis colorectal cancer (HNPCC). Am. J. Clin. Oncol. 26 (2003) 386-391
13. Obmolova G., Ban C., Hsieh P., and Yang W. Crystal structures of mismatch repair protein MutS and its complex with a substrate DNA. Nature 407 (2000) 703-710
14. Fleming M.A., Potter J.D., Ramirez C.J., Ostrander G.K., and Ostrander E.A. Understanding missense mutations in the BRCA1 gene: an evolutionary approach. Proc. Natl Acad. Sci. USA 10 (2003) 1151-1156
15. Wehner M., Buschhausen L., Lamberti C., Kruse R., Caspari R., Propping P., et al. Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes. Hum. Mutat. 10 (1997) 241-244
16. Wang Y., Friedl W., Lamberti C., Jungck M., Mathiak M., Pagenstecher C., et al. Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes. Int. J. Cancer 103 (2003) 636-641
17. Wijnen J., van der Klift H., Vasen H., Khan P.M., Menko F., Tops C., et al. MSH2 genomic deletions are a frequent cause of HNPCC. Nat. Genet. 20 (1998) 326-328
18. Wagner A., Barrows A., Wijnen J.T., van der Klift H., Franken P.F., Verkuijlen P., et al. Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. Am. J. Hum. Genet. 72 (2003) 1088-1100
19. Jarvinen H.J., Aarnio M., Mustonen H., Aktan-Collan K., Aaltonen L.A., Peltomaki P., et al. Controlled 15-year trial on screening for colorectal cancer in familiar with hereditary nonpolyposis colorectal cancer. Gastroenterology 118 (2000) 829-834