نتایج جستجو برای: palb2
تعداد نتایج: 380 فیلتر نتایج به سال:
Genetic testing for the two major breast cancer susceptibility genes, BRCA1 and BRCA2 is widely available in North America and Europe. A few other highly-penetrant breast cancer genes have been found, including p53, BRIP1 and PALB2, but families with mutations in these are exceedingly rare. Arguably, the most relevant of the post-BRCA genes, from a clinical point of view, is CHEK2, which was fi...
Hereditary Breast and Ovarian Cancer (HBOC) syndrome is a condition in which the risk of breast ovarian cancer higher than general population. The prevalent pathogenesis attributable to inactivating variants BRCA1-2 highly penetrant genes, however, other susceptibility genes may also be involved. By Exome Sequencing (ES) we analyzed series 200 individuals selected for genetic testing according ...
Current methods for targeted massively parallel sequencing (MPS) have several drawbacks, including limited design flexibility, expense, and protocol complexity, which restrict their application to settings involving modest target size and requiring low cost and high throughput. To address this, we have developed Hi-Plex, a PCR-MPS strategy intended for high-throughput screening of multiple geno...
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