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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Bibliographic Details
Main Author: Sigurður Ingvarsson 1956-
Other Authors: Háskóli Íslands
Format: Article in Journal/Newspaper
Language:English
Published: 2014
Subjects:
Online Access:http://hdl.handle.net/1946/20587
Description
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.