Article
First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer.
BMC cancer - 1 Jul 2014
Tedaldi Gianluca, Danesi Rita, Zampiga Valentina, Tebaldi Michela, Bedei Lucia, Zoli Wainer, Amadori Dino, Falcini Fabio, Calistri Daniele
Abstract excerpt
BACKGROUND: CHEK2 is a multi-cancer susceptibility gene whose common germline mutations are known to contribute to the risk of developing breast and prostate cancer. CASE PRESENTATION: Here, we describe an Italian family with a high number of cases of breast cancer and other types of tumour subjected to the MLPA test to verify the presence of BRCA1, BRCA2 and CHEK2 deletions and duplications. We identified a new...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.