© Borgis - Postępy Nauk Medycznych 11, s. 886
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Personalized medicine is a motto of contemporary research, so often that sometimes, we can have impression of misuse. However in clinical genetics we are really recording systematic advances, practically in all fields which have to be followed carefully because of their value in medical practice.
Herein a series of reviews have been published on current status of knowledge in such cancer family syndromes, like MEN 2, von Hippel-Lindau, neurofibromatosis 1 and 2, retinoblastoma and also on genotype – phenotype correlations on unselected cancers of the stomach, pancreas and prostate and on consecutive malignant melanomas.
In my opinion, the most valuable achievement in described are as include: identification of PALB 2 and Werner syndrome genes as associated with susceptibility to pancreatic cancer, identification at SPRED as NF1 gene, criteria for sequencing CDKN2A gene, identification of constitutional markers of high risk of prostate cancer such as mutations of CHEK2, NBS1 and BRCA1 genes and accumulation a few variants discovered by GWAS studies in one men.
Above mentioned events are the most impressive, however physicians willing to provide the best service in their oncology clinics, will be able to find dozens of small detailed improvements especially in diagnostics, prevention and surveillance in all described areas.
prof. dr hab. med. Jan Lubiński
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