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

A durable response to pembrolizumab in a patient with uterine serous carcinoma and Lynch syndrome due to the MSH6 germline mutation

Published date:
05/20/2021
Excerpt:
...we report a case of metastatic uterine serous carcinoma due to a germline MSH6 mutation (Lynch syndrome) which was discovered because of her tumor MMR deficiency....Tumor sequencing showed a high mutational burden and an upstream somatic mutation in the same gene, p.F1088fs....Our case demonstrated a partial response and a long-term remission from the front-line single-agent pembrolizumab in a woman with metastatic uterine serous carcinoma and Lynch syndrome due to a germline MSH6 gene mutation.
DOI:
10.1002/onco.13832