© Borgis - Postępy Nauk Medycznych 8/2008, s. 534
Komentarz do prac
According to our experience the progress in clinical genetics of cancer is so quick that it is raising severe educational problem for doctors and other counselors to get updated information in concise, ordered and reasonably complete form. This is why we decided to publish in Postepy Nauk Medycznych the critical parts of monograph "Clinical genetics of cancer 2008” which has been prepared by our centre and updated annually.
We present several aspects of clinical genetics of cancer which address particularly important questions related to risk assessment and management of the patients we see in our clinics.
Since the early 90s it has become possible to support clinical cancer genetics by adding DNA testing for mutations within high-risk genes, such as BRCA1, BRCA2, MSH2, MLH1, APC and VHL. These opportunities have revolutionized the clinical situation of patients, but many doctors have been very pessimistic about some aspects of the large-scale and worldwide introduction of DNA testing into clinical practice, which is fuelled mainly by the high cost of screening for mutations within genes of large size such as BRCA1, where the actual cost of BRCA1/BRCA2 testing by DNA sequencing is around 3000 EUR/US dollars. Except for a small number of rich countries, this cost is prohibitively high. Fortunately, several of these cancer predisposition genes show a strong founder effect. Thus, for many populations, including those from the poorest countries, it is possible to offer inexpensive and rapid DNA testing. In this way doctors and scientists from regions like Eastern Europe can significantly contribute to worldwide progress in understanding inherited cancer syndromes.
Particularly important are chapters on BRCA1 and HNPCC (Lynch) syndromes. I´d like to underline several special topics.
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