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Variants of Uncertain Significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling

✍ Scribed by Moghadasi, S.; Hofland, N.; Wouts, J. N.; Hogervorst, F. B. L.; Wijnen, J. T.; Vreeswijk, M. P. G.; van Asperen, C. J.


Book ID
126459458
Publisher
BMJ Publishing Group
Year
2012
Tongue
English
Weight
263 KB
Volume
50
Category
Article
ISSN
0022-2593

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Clinical mutation screening of the BRCA1 and BRCA2 genes for the presence of germline inactivating mutations is used to identify individuals at elevated risk of breast and ovarian cancer. Variants identified during screening are usually classified as pathogenic (increased risk of cancer) or not path