Article
Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.
Human mutation - 1 Jun 2011
Hellebrand Heide, Sutter Christian, Honisch Ellen, Gross Eva, Wappenschmidt Barbara, Schem Christian, Deissler Helmut, Ditsch Nina, Gress Verena, Kiechle Marion, Bartram Claus R, Schmutzler Rita K, Niederacher Dieter, Arnold Norbert, Meindl Alfons
Abstract excerpt
The Partner and Localizer of BRCA2 (PALB2) protein has been linked to Fanconi anemia and breast cancer predisposition. Here we present data of a comprehensive mutation screening of the PALB2 gene in 818 familial cases of breast cancer from Germany. By analyzing the entire coding region of PALB2, we found seven truncating mutations (six of them novel) in families tested negative for BRCA1/2-mutations. In addition,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.