Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis
✍ Scribed by Silvija Jerkic; Hendrik Rosewich; Jens-Gerd Scharf; Christina Perske; Laszlo Füzesi; Ekkehard Wilichowski; Jutta Gärtner
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 294 KB
- Volume
- 164
- Category
- Article
- ISSN
- 0340-6997
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A s of 1999, it is possible to test selected subjects for carriage of germline mutations in genes responsible for familial adenomatous polyposis (FAP), 1,2 hereditary nonpolyposis colorectal cancer (HNPCC), 3,4 Peutz-Jeghers syndrome, 5 and juvenile polyposis. 6,7 These diseases are heterogeneous ph
Germline mutations in the tumor-suppresor APC gene are associated with hereditary familial adenomatous polyposis (FAP) and somatic mutations are common in sporadic colorectal cancer. In this study, we report the identification of three novel germline mutations: 1682-1683insA, 3252-3253insAT, 3544A>T