Article
Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer.
Genetic testing and molecular biomarkers - 1 Aug 2010
Guénard Frédéric, Pedneault Christopher St-Laurent, Ouellette Geneviève, Labrie Yvan, Simard Jacques, Durocher Francine
Abstract excerpt
Inactivating mutations of the CHEK2 and STK11 genes are responsible for Li-Fraumeni and Peutz-Jeghers syndrome, respectively, both autosomal dominant syndromes associated with an increased risk of breast cancer. The PALB2/FANCN gene encodes a nuclear partner of BRCA2 and acts as a linker between BRCA1 and BRCA2. Monoallelic PALB2 truncating mutations were shown to confer higher risk of breast cancer. To evaluate...
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