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Association details:
Evidence:
Evidence Level:
Sensitive: C4 – Case Studies
Title:

BAP1-defficient breast cancer in a patient with BAP1 cancer syndrome

Published date:
04/05/2022
Excerpt:
We present a case of a patient with BAP1 cancer syndrome who developed a metastatic breast cancer with loss of BAP1 demonstrated on immunohistochemistry. She carried a germline BAP1 likely pathogenic variant (c.898_899delAG p.(Arg300Glyfs*6))....As her triple negative tumor was shown to be PD-L1 positive, the patient was treated with combination of atezolizumab and nab-paclitaxel. She had a complete and sustained response to immunotherapy even after discontinuation of nab-paclitaxel.
DOI:
10.1007/s12282-022-01354-0