Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

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Saturday, May 29, 2010

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts




BACKGROUND:
Genetic screening of breast cancer patients and their families have identified a number of variants of unknown clinical significance in the breast cancer susceptibility genes, BRCA1 and BRCA2.

CONCLUSIONS:
These results illustrate the need for improved methods for predicting functional ESEs and the potential consequences of sequence variants contained therein.

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