Archive for the 'Genetics'

Significant increase in number of women tested for BRCA gene, but many high-risk patients are still missing out

Discovery of the BRCA genetic mutation in the mid-90s represented a breakthrough in breast and ovarian cancer prevention.

Researchers discover novel risk factor in breast cancer protein 1 (BRCA1) for fetal alcohol spectrum disorders

Researchers at the University of Toronto have discovered a novel function performed by the breast cancer 1 protein (BRCA1), which regulates DNA repair.

Ambry Genetics presents groundbreaking TP53 gene data at ASHG; TP53 linked to breast cancer

Ambry Genetics (Ambry), a leader in clinical genetic diagnostics and genetics software solutions, has announced new data affirming the effectiveness of multi-gene panel testing (MGPT) in...

Massively parallel gene function assays aim to reduce uncertainty of genetic diagnoses

Nearly 2000 BRCA1 variants studied in laboratory testsPatients seeking certainty in genetic tests often receive a perplexing result.

Estimates of gastric, breast cancer risk in carriers of CDH1 gene mutations

More precise estimates of age-associated risks of gastric and breast cancer were derived for carriers of the CDH1 gene mutation, a cancer predisposing gene that is abnormal in families meeting...