publication . Other literature type . 2008

Mouse ES-cell-based functional assay to evaluate mutations in BRCA2

Kuznetsov, Sergey G.; Liu, Pentao; Sharan, Shyam K.;
Open Access English
  • Published: 06 Jul 2008
Abstract
Individuals with mutations in breast cancer susceptibility genes, BRCA1 and BRCA2 have up to 80% risk of developing breast cancer by the age of 70. Sequencing based genetic tests are now available to identify mutation carriers in effort to reduce mortality through prevention and early diagnosis. However, lack of a suitable functional assay hinders risk assessment of more than 1900 BRCA1 and BRCA2 variants in the Breast Cancer Information Core database that do not clearly disrupt the gene product. We have established a simple, versatile and reliable assay to test for functional significance of mutations in BRCA2 using mouse embryonic stem cells (ES-cells) and bac...
Subjects
Medical Subject Headings: skin and connective tissue diseasesendocrine system diseases
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Other literature type . 2008
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