The genetic landscape of familial breast cancer in Iceland
In Iceland a rare founder mutation has been detected in BRCA1, and a frequent one in BRCA2. An extensive analysis on somatic changes and gene expression in tumours of the BRCA2 999del5 founder-mutation carriers has been made. Population-based studies have been performed on a large number of availabl...
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Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
2014
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Online Access: | http://hdl.handle.net/1946/20587 |
Summary: | In Iceland a rare founder mutation has been detected in BRCA1, and a frequent one in BRCA2. An extensive analysis on somatic changes and gene expression in tumours of the BRCA2 999del5 founder-mutation carriers has been made. Population-based studies have been performed on a large number of available carriers, regarding penetrance, cancer risk, phenotype, clinicopathology, genetic modifiers and influence from the environment. |
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