Case Report: Double Germline Mutations in BRCA1 and MSH2 in a Patient With Mixed Serous-Endometrioid Endometrial Carcinoma.
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SUBMITTER: Zheng H
PROVIDER: S-EPMC7670051 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
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Case Report: Double Germline Mutations in <i>BRCA1</i> and <i>MSH2</i> in a Patient With Mixed Serous-Endometrioid Endometrial Carcinoma.
Zheng Hong H Yuan Mingming M Wu Huanwen H Chen Rongrong R Gao Yunong Y
Frontiers in medicine 20201103
Mixed serous-endometrioid endometrial carcinoma is a type of endometrial cancer with relatively low incidence. The genetic factors contributing to the tumorigenesis of mixed carcinoma remains to be explored. Here, we report the first identification of two germline mutations in <i>BRCA1</i> and <i>MSH2</i> in a woman with mixed serous papillary adenocarcinoma and endometrioid carcinoma. Immunohistochemistry analysis showed loss of MSH2 and MSH6 protein expression in the endometrioid component. Th ...[more]
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