Heterogeneous constitutional mismatch repair deficiency with MSH6 missense mutation clinically benefits from pembrolizumab and regorafenib combination therapy: a case report and literature review
Abstract Background Germline DNA mismatch repair (MMR) gene aberrations are associated with colorectal cancer (CRC) predisposition and high tumor mutation burden (TMB-H), with increased likelihood of favorable response to immune checkpoint inhibitors (ICIs). Case presentation We present a 32-year ol...
محفوظ في:
| المؤلفون الرئيسيون: | , , , , , , , , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
BMC
2021-01-01
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| سلاسل: | Hereditary Cancer in Clinical Practice |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://doi.org/10.1186/s13053-021-00165-2 |
| الوسوم: |
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