منابع مشابه
Genetic counselling for hereditary predisposition to ovarian and breast cancer.
Since the identification of BRCA 1 and 2 in 1995, testing for mutations in these genes has been offered to cancer patients and their families by clinical genetics services. These services are provided across Europe by a small number of health professionals, and are therefore low volume, and low capacity and patients experience considerable delays, both in seeing a clinician and in laboratory te...
متن کامل[Genetic mechanisms in the hereditary predisposition to colorectal cancer].
A proportion of colorectal cancers shows some type of genetic predisposition that can be recognised in clinical practice. From the classical dominant inheritance pattern of familial adenomatous polyposis or hereditary non-polyposis colorectal cancer, through the recessive transmission of the MYH associated polyposis, to the new syndromes of the "serrated pathway" or low-penetrance alleles, the ...
متن کاملDiagnostic microarray test for a genetic predisposition to hereditary nonpolyposis colorectal cancer (HNPCC)
Colorectal cancer (CC), due to its frequency and social costs is a subject of extensive screening programs (colonoscopy and new developments) in several countries, including Poland. Relatively common and defined genetic predispositions to different forms of CC make genetic screening an attractive alternative, not only in families with positive CC history. Optimal testing strategy should be acce...
متن کاملThe use of gene tests to detect hereditary predisposition to cancer: economic considerations.
Several mutations recently have been shown to be associated with hereditary nonpolyposis colon cancer (HNPCC) in families displaying unusually strong predisposition to colorectal cancer. Laboratory tests to detect such gene mutations soon will be commercially available, raising the possibility for population-wide screening. The purpose of this study was to explore the economic implications of c...
متن کاملPossible role of telomerase activation in the cancer predisposition of patients with hereditary nonpolyposis colorectal cancers.
BACKGROUND Hereditary nonpolyposis colorectal cancer syndrome (HNPCC syndrome; also called Lynch syndrome) is one of the most common cancer predisposition syndromes. Most cases of cancer associated with this syndrome are due to the inheritance of germline mutations in genes that encode proteins required for DNA mismatch repair; defects in these proteins allow mutations to accumulate more rapidl...
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ژورنال
عنوان ژورنال: The Boston Medical and Surgical Journal
سال: 1848
ISSN: 0096-6762,1533-4406
DOI: 10.1056/nejm184808020390102