Identification of a deletion in the mismatch repair gene, MSH2, using mouse-human cell hybrids monosomal for chromosome 2

Clinical Genetics

Volumn 63, Issue 3, 2003, Pages 215-218

  Pyatt, Robert E ^a   Nakagawa, H ^a   Hampel, H ^a   Sedra, M ^a   Fuchik, M B ^a   Comeras, I ^a   de la Chapelle, A ^a   Prior, T W ^a  

^a OHIO STATE UNIVERSITY   (United States)

Author keywords

Colorectal cancer; Deletion; HNPCC; Monosomal hybrid

Indexed keywords

COMPLEMENTARY DNA; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ALLELE; ANIMAL CELL; ARTICLE; CHROMOSOME 2; COLORECTAL CANCER; CONTROLLED STUDY; DIPLOIDY; DNA PROBE; EXON; FAMILIAL CANCER; FAMILY; FEMALE; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HYBRID CELL; MISMATCH REPAIR; MONOSOMY; MOUSE; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOUTHERN BLOTTING; UNITED STATES;

ANIMALS; AUTORADIOGRAPHY; BASE PAIR MISMATCH; BLOTTING, SOUTHERN; CHROMOSOMES, HUMAN, PAIR 2; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR; EXONS; FEMALE; GENE DELETION; HUMANS; HYBRID CELLS; MALE; MICE; OHIO; PEDIGREE; SEQUENCE ANALYSIS, DNA;

ANIMALIA;

EID: 0042131839     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00040.x     Document Type: Article

References (11)

1. Eng C, Hampel H, de la Chapelle A. Genetic testing for cancer predisposition. Annu Rev Med 2000: 52: 371-400.
2. Wijnen J, van der Klift H, Vasen H et al. MSH2 genomic deletions are a frequent cause of HNPCC. Nat Genet 1998: 20: 326-328.
3. Leach FS, Nicolaides NC, Papadopoulos N et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993: 75: 1215-1225.
4. Yan H, Papadopoulos N, Marra G et al. Conversion of diploidy to haploidy. Nature 2000: 403: 723-724.
5. Charbonnier F, Raux G, Wang Q et al. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescence fragments. Cancer Res 2000: 60: 2760-2763.
6. Charbonnier F, Olschwang S, Wang Q et al. MSH2, in contrast to MLH1 and MSH6, is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res 2002: 62: 848-853.
7. Vasen HFA, Wijnen JT, Menko FH et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996: 110: 1020-1027.
8. Nystrom-Lahti M, Kristo P, Nicolaides NC et al. Founding mutations and ALU-mediated recombination in hereditary colon cancer. Nat Med 1995: 1: 1203-1206.
9. Moisio AL, Sistonen P, Weissenbach J, de la Chapelle A, Peltomaki P. Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet 1996: 59: 1243-1251.
10. Mauillon JL, Michel P, Limacher J-M et al. Identification of novel germline hMLH1 mutations, including a 22-kb Alu-mediated deletion, in patients with familial colorectal cancer. Cancer Res 1996: 56: 5728-5733.
11. Papadopoulos N, Leach FS, Kinzler KW, Vogelstein B. Monoallelic mutation analysis (MAMA) identifying germline mutations. Nat Genet 1995: 11: 99-102.