The clinical manifestations of 1,042 Japanese patients with nonpolyposis colorectal cancer who underwent a resection between 1972 and 1992 at the National Kyushu Cancer Center were examined. Hereditary nonpolyposis colorectal cancer (HNPCC) was found in 39 (3.7%) patients. Some characteristic findin
Spectrum of germ-lineMLH1andMSH2mutations in Austrian patients with hereditary nonpolyposis colorectal cancer
โ Scribed by Brigitte Wolf; Silvia Henglmueller; Elisabeth Janschek; Denisa Ilencikova; Carmen Ludwig-Papst; Michael Bergmann; Christine Mannhalter; Friedrich Wrba; Judith Karner-Hanusch
- Publisher
- Springer Vienna
- Year
- 2005
- Tongue
- English
- Weight
- 119 KB
- Volume
- 117
- Category
- Article
- ISSN
- 0043-5325
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## BACKGROUND. Hereditary nonpolyposis colorectal cancer (HNPCC) is linked genetically to mutations in DNA mismatch repair (MMR) genes. Because a deficiency in MMR does not predict a specific phenotype, the original selection criteria may be too restrictive in identifying additional families. The
Mismatch repair genes MSH2 and MLH1 are considered to be the two major genes that are responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Germline heterozygous inactivating mutations of MSH2 and MLH1 have been identified previously in a substantial fraction of individuals who are pred
Communicated by Sauiu L.C. Woo We examined 18 unrelated individuals who have colorectal cancer or cancers associated with the HNPCC syndrome and have a family history of cancer for mutations in exon 13 of the hMSH2 gene. Two of the 18 individuals had the same previously unreported single-base delet