"This research is a major advancement in understanding the role of many BRCA2 variants in cancer predisposition ... of their VUS as the ClinVar BRCA1/2 expert panel and testing laboratories ...
Susan M. Domchek, MD, FASCOPHILADELPHIA - Susan M. Domchek, MD, FASCO, has been recognized by the American Society of Clinical Oncology (ASCO) with ...
“A disease-causing mutation is not absolute; this means that if there are 100 women with the same disease-causing mutation in a specific gene [e.g. BRCA1 or BRCA2], between 60 to 80 of them will ...
The health technology assessment agency has recommended that the drug be used on the NHS in England and Wales to treat adults with HER2-negative, locally advanced or metastatic breast cancer with ...
The researchers completed a comprehensive functional assessment of all possible variants within the crucial DNA-binding domain of BRCA2, resulting in the clinical classification of 91% of variants ...
This treatment targets adults with HER2-negative, locally advanced or metastatic breast cancer who have germline BRCA1 or BRCA2 mutations, following chemotherapy. Germline BRCA1 and BRCA2 mutations ...