Hereditary nonpolyposis colorectal cancer (HNPCC) is one of the most common hereditary cancer-susceptibility syndromes. Germline mutations in mismatch repair genes are associated with the clinical phenotype of HNPCC. We report ten novel germline mutations, three in MSH2 and seven in MLH1. All but on
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)
✍ Scribed by G Kurzawski; J Suchy; M Lener; E Kłujszo-Grabowska; J Kładny; K Safranow; K Jakubowska; A Jakubowska; T Huzarski; T Byrski; T Dębniak; C Cybulski; J Gronwald; O Oszurek; D Oszutowska; E Kowalska; S Góźdź; S Niepsuj; R Słomski; A Pławski; A Łącka-Wojciechowska; A Rozmiarek; Ł Fiszer-Maliszewska; M Bębenek; D Sorokin; MM Sąsiadek; A Stembalska; Z Grzebieniak; E Kilar; M Stawicka; D Godlewski; P Richter; I Brożek; B Wysocka; J Limon; A Jawień; Z Banaszkiewicz; H Janiszewska; J Kowalczyk; D Czudowska; RJ Scott; J Lubiński
- Book ID
- 110888148
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 127 KB
- Volume
- 69
- Category
- Article
- ISSN
- 0009-9163
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Hereditary nonpolyposis colorectal cancer (HNPCC) is a dominantly-inherited cancer predisposition syndrome, in which the susceptibility to cancer of the colon, endometrium and ovary is linked to germline mutations in DNA mismatch repair (MMR) genes. We have recently initiated a cancer prevention pro
## Abstract HNPCC is an autosomal dominantly inherited cancer‐susceptibility syndrome that confers an increased risk for colorectal cancer and endometrial cancer at a young age. It also entails an increased risk of a variety of other tumors, such as ovarian, gastric, uroepithelial and biliary tract
Germline mutations in the MLH1 and MSH2 genes, account for the majority of HNPCC families. We have screened such families from Spain by using DGGE analysis and subsequent direct sequencing techniques. In eight families we identified six novel MLH1 and two novel MSH2 mutations comprising one frame sh